If you or your partner have been pregnant in the last five years, or you have seen news stories about pregnancy screening and Down’s syndrome, you will have probably heard of non-invasive prenatal testing (NIPT), or the ‘Harmony test’ as its often called (which is one of the test’s brand names).

Update on this blog post

For an update since this blog post, read our post below.

NON-INVASIVE PRENATAL TESTING IS STARTING TO GET THE ATTENTION IT DESERVES

This is a newish kind of screening test in which a blood sample from a pregnant woman is used to test for a range of genetic conditions in the fetus, with varying levels of certainty. NIPT has been shown in multiple studies to be very good at identifying the most common chromosomal conditions – Down’s syndrome, Edwards’ syndrome and Patau’s syndrome – particularly in women who have a higher chance[1] of having a fetus with one of these conditions. You still get some false positive results, but far fewer than with older screening tests. NIPT for these conditions has recently become available to pregnant women in the higher chance category in the NHS in Wales, and it has been promised to women in England and Scotland in the near future.

However, NIPT can already be accessed through numerous private clinics and hospitals across the UK for around £500. It is pretty accurate for Down’s, Edwards’ and Patau’s syndromes even if you are not in the higher chance category, and the test is available from around 9 weeks of pregnancy.

The Nuffield Council on Bioethics’ 2017 report on the ethical issues raised by NIPT discussed the offer of NIPT in the private sector. We highlighted some serious issues with how some (not all) clinics and NIPT test providers are marketing and offering NIPT in the UK. Disappointingly, despite our best efforts to raise these issues, little has changed.

Our main concerns are:

1. Misleading use of statistics

The websites of most private providers state that NIPT is ‘99% accurate’ or has ‘99% sensitivity’. I think most people would assume that this means their result will tell them pretty much for sure whether their fetus has one of the conditions or not. But as the conditions affect less than 1% of all children born, a dummy test that gave everybody a low chance result would be 99% accurate.

A more helpful statistic is the positive predictive value. Sometimes NIPT gives a high chance result when the fetus does not actually have the condition. If you receive a high chance result for Down’s syndrome, there is a 1 in 5 (20%) chance that the result is wrong and your fetus does not have the condition. For Patau’s syndrome, there is a 1 in 2 (50%) chance the result is wrong, and for Edwards’ syndrome, it’s a 3 in 5 (60%) chance.[2] So, if you want to know for sure, you will also need to have a diagnostic test such as amniocentesis. Some companies give people’s results as being ‘positive’ or ‘negative’, which as you can see is highly misleading or, at best, confusing.

2. Poor information about the tested-for conditions

Very fewprivate clinics or test providers include information about Down’s syndrome, Edwards’ syndrome and Patau’s syndrome in their marketing and information materials. In the NHS, the development of balanced and up-to-date information about the conditions has been central to the aim of ensuring women and couples make informed decisions about NIPT. Public Health England has spent a year consulting with support organisations and families of people with the conditions to help them describe, as neutrally as possible, what having a child with one of these conditions might mean.[3] Yet, in the private sector, you’re lucky if they have included the web address of a Down’s syndrome organisation.

At the Nuffield Council, we believe it's only ethical to offer NIPT within an environment that enables women and couples to make informed choices, and the provision of high quality information about the tested-for conditions is crucial to this.

3. Offering NIPT where the accuracy is low or unknown

Many clinics and NIPT test providers offer the option of testing for a range of other, often very rare, genetic conditions. These include those caused by unusual numbers ofthe sex (X and Y) chromosomes, such as Turner syndrome and Triple X syndrome,and those caused by small bits of DNA missing, called microdeletions, such as Prader-Willi syndrome and 5p deletion syndrome.

Information relating to the accuracy of NIPT for these conditions is often missing from websites and public materials. This is probably because the limited research that has taken place has shown that NIPT performs poorly for many of these conditions.[4]

This means that, if you chose to test for these other conditions (and I can understand why many women opt for this when NIPT is marketed as being 99% accurate) and you get a high chance result, there is a high probability that the result will turnout to be wrong. You’re left with a choice between having an amniocentesis, which carries a small risk of miscarriage, to get a definite result, or living withthe uncertainty. We have heard from women in this position that the anxiety this causes can be huge.

We believe that clinics and test providers should stop offering NIPT for conditions where it does not offer an accurate prediction, and that they should provide full information about the limitations of the tests they do offer.

4. Lack of follow-up support

Some private hospitals and clinics offer a full package of care that includes pre-test counselling, access to a healthcare professional to discuss high chance results, and follow-up diagnostic testing if requested. But many do not offer all this. This is particularly true for those companies offering NIPT on a direct-to-consumer basis, where you order online and the test kit is sent to you in the post.

In many cases, it is NHS staff who have to deal with the fall-out. We have heard that women with high chance NIPT results are going to the NHS for advice, support and diagnostic testing. How the NHS will meet demand for this as private provision escalates is a source of concern.[5]Although maternity care staff are receiving training in preparation for theroll-out of NIPT for Down’s, Edwards’ and Patau’s syndromes, they are less likely to know about the other conditions that private NIPT providers offer to test for.

What next?

I’ve highlighted four areas of practice that we are concerned about, but our list ismuch longer (e.g. lack of information about the possibility that NIPT might not produce a clear result either way, or that it might identify secondary findings about the mother’s health, using offensive language when referring to Down’ssyndrome and other conditions, and the offer of ‘baby gender’ tests). We think things could be much better.

We have already produced a guidance leaflet for manufacturers and healthcare providers on the information to include on their websites and leaflets about NIPT.

However, it seems unlikely that self-regulation will be enough. As such, we are delighted that the Care Quality Commission has recently changed its position and now considers NIPT to be within its remit, in line with a recommendation in our report. It has already started carrying out inspections of clinics in England that offer NIPT, so we hope to start seeing improvements in standards of care soon.

In addition, last week we urged the House of Commons Science and Technology Select Committee to investigate the regulation of private NIPT as part of an inquiry on commercial genetic testing. We are also seeking to raise public awareness of the issues (see today's BBC article and segment on BBC Radio 4's Today programme).

We will continue to work with these and other partners in a renewed effort to raise standards among private NIPT providers.


[1]Pregnant women usually find out if they have a higher chance of having a fetus with Down’s syndrome, Edwards’ syndrome or Patau’s syndrome through early pregnancy screening tests, such as the combined test. These tests are offered to all pregnant women in England, Scotland and Wales. The results of an ultrasound scan and blood tests are taken together with the woman’s age to workout a probability score. If the score is at least 1 in 150, the woman is considered to be in a ‘higher chance’ category.

[2]See the Warwick Evidence systematic review of the performance of NIPT across 41studies, which is summarised on p13 of the Nuffield Council on Bioethics’ reporton NIPT. For statistics geeks, in a general population of pregnant women, the positive predictive value of NIPT for Downs’ syndrome is 81.6%, for Edwards’ syndrome is 37%, and for Patau’s syndrome is 49%. The negative predictive value (NPV) tells you how likely it is that a low chance NIPT resultis correct. NIPT has a very high NPV for Down’s, Edwards’ and Patau’s syndromes(99.9%) so you can be pretty certain a low chance result means that you do not have a fetus with one of the conditions.

[3]See the Public Health England screening blog for updates, e.g. https://phescreening.blog.gov.uk/2017/03/24/introducing-non-invasive-prenatal-testing-to-antenatal-screening-progress-so-far/

[4] Cochrane,an independent research organisation, published a meta-analysisof the evidence on the accuracy of NIPT in 2017. They were unable to perform meta-analyses of NIPT for several sex aneuploidy conditions because there were very few or no studies. Other studies have considered the utility of NIPT for testing for microdeletions, e.g. this study, by some of the leading NIPT experts in the UK, concluded that NIPT for microdeletions is not ready for routine clinical implementation.

[5]See paragraph 4.35-36 of the Nuffield Council on Bioethics’ reporton NIPT.

Comments (106)

  • Laura   

    Age 37 located UK BMI 31.5 2nd pregnancy 14years after no concerns pregnancy and baby.
    Serum screen and 12 week scan showed MoM values. hCG 3.36 PAPP-A 1.16 NT 1.47 at 2.8mm with scan showing 13weeks+ 4.
    Gave 1:36 high chance for Down syndrome.
    NIPT verbal was ‘HIGH CHANCE’ have requested a ‘hard copy of results for my notes not sure if i will receive’
    Declined invasive testing.
    Personal Considerations = had a bleed at 9 weeks LMP ….. advised to all
    (Possible vanishing twin??) no by professional consideration given. Have had 2 private scans. One after bleed confirmation 9week LMP private non diagnostic would not look nor advise for loss of a multiple. 16 week gender scan measurements taken obligated to advise any noted abnormalities, no advisory given. NHS 12 week (or 13+4 as per CRL) no concerns noted but baby didn’t move into profile view possibility of obscured measurements?
    I may be clutching to certain hopes here but it has been 1.5 weeks since advised NIPT call have had no follow up care or support other than we gave you a book have a read through. Standard midwife appointment was all good on other blood results and in general. Midwife had no idea about high chance results. Was more concerned with flu, whooping cough and covid vaccination. Then a diabetes test referral as precaution. (Based on age and BMI) then informed i will have to have 7-10 days of heparin injections as a preventative measure after birth against blood clots. Again based on BMI and age.
    Ensue massive anxiety attacks thinking about it all. Feeling like an overwhelmed pin cushion being punished for being pregnant 2.5 years past best before date. I’m fully expecting a baby with extra chromosomes and have no issue with it. Of course i would love for a baby without all or any possible traumas that T21 babes can have. But is there really enough information and support out there for us mums being driven crazy with numbers and lack of valid or clear information? Is if all transparent enough? I was offered an amniocentesis with my first when i was only 22 had no known Markers of any kind that I’m aware of. Has the world gone mad with selective baby options? Each to their own in choice but are these tests really all that helpful when all i can see is sooo much worry mixed with the beautiful support from others who have been through it. But lets be real is false positive false hope?

  • Michelle   

    Hi everyone

    First child pregnancy at 38yo. Went for 1 trimester ultrasound scan and no flags for Down syndrome. Baby’s fluid behind neck was 2mm at 13w, nasal bone looks great and all other markers looked great. Then a few days later we received the results of the NIPT a test. High risk for Trim 21. We were shocked and the doctor was surprised at these results as well. Any one else have this issue?

  • Dee   

    Hi I am 37 yo. Pregnant with an IVF baby. I had a NIPT test which came back low risk but attended my 13week NT scan which found that my baby boy had no nasal bone. I am stressed out about what this could mean in terms of genetic abnormalities. Does anyone have any advice for me?
    I have had two losses previously and have one rainbow toddler.
    I am also on Clexane injections and aspirin and progesterone pessaries.
    Thanks heaps

  • Sue   

    I arrived at this site after receiving a positive NIPT result for Trisomy 21 (Downs) I read through all the comments and just wanted to share my story as well. I’m a healthy 43 year old with 2 kids in early elementary school. With my advanced maternal age I was offered the NIPT at 9 weeks. At 10 weeks I received the result and at 11 weeks I had a CVS test which is diagnostic and will tell you definitively if your baby has a chromosomal issue (across all chromosomes as well as any micro deletions). While I was hoping that my NIPT result was a rare false positive, the CVS confirmed trisomy 21 at 12 weeks. This was devastating news for us but ultimately confirmed what I knew deep down to be true. I feel lucky to know early in my pregnancy. I would also like to share that while the CVS has a 1 in 500 chance of miscarriage, the procedure was not painful for me but just a little uncomfortable, like a Pap smear - but longer duration and the doctor and sonographer worked together to guide the device into the placenta, being careful of the baby, which the sonographer is watching on the screen. I hope this helps. I hope you all find comfort sooner or later in your eventual outcomes. Take care.

    • Sarah D   

      Hi there Sue. Hope you’re well. I felt compelled to clarify that within the context of Down’s syndrome NIPT has higher accuracy, but is wrong the majority of the time with all other Trisomies. As for CVS, whilst more accurate, it is only actually a biopsy of the placenta. In some instances the placenta does not match the baby at all. Additionally anomalies like mosaicism mean the tests are even more complex. I felt compelled to respond as many people assume CVS is diagnostic and don’t realise there can actually be many weeks/months between NIPT flagging concerns and receiving clearer prenatal prognosis.

  • Samir   

    Hi All,

    We are in same situation. My wife (31 year old) is 16 weeks pregnant via IVF. We have done PGS testing before embryo transfer but second trimester blood work result came as positive for possible DS.

    Still we don't know, what are percentage or range was mentioned in report as we have genetic counseling and level 2 details scan is scheduled tomorrow.

    We are devastated after hearing this today morning and do not understand how it is possible if we had PGS testing done on embryo.

    Anyone gone through the same situation, just trying to keep ourselves calm and hoping everything to be normal in tomorrow's scan.


    Thanks
    Sameer

    • Thais   

      Hi,

      You probably have your results now but my NIPT test came back positive for Edwards, which was devastating! However, amnio results came back negative. Very anxious time but so glad we went ahead with it. All the best.

  • Sarah Fortuno   

    Sharing this good news after gaining strength and hope by reading all your experiences and thoughts.
    I have done NIPT Percept on my 13th week with our rainbow baby. After 4 days I have received the worst news I could possibly hear: our baby, our baby girl has got 63% chance of having Turner Syndrome. I had my NT scan 2 days after with the instruction that if turns out good we will proceed to Amnio on my 15th week but if not do CVS that same day. Scans were good thankfully so we opt to wait for the amnio be done. My 15th week came and baby seemed still looking fine with mo markers for TS. Amnio was carried out. After 2 days, we have received a beautiful news that FISH test was normal.And after another 12 days, today, we have received a call that microarray is also normal and our rainbow baby has got no any genetic issue.
    Folks, just be strong! I am a first time mom with a hx of ectopic pregnancy 10 months ago, now bearing a beautiful and healthy baby.
    It may have been a roller coaster ride for me and my loving husband but hey, we learned that whatever it is, whatever happens to our baby, we are her parents and we will love her the same. With or without TS. I have just met my OB this afternoon and hearx my baby’s heartbeat again for the first time without worries! Be strong everyone and pray❤️❤️❤️

    • Felicia   

      Hello Sarah, thank you for sharing this good news! 2 weeks ago i received NIPT test and they said my baby has high risk of monosomy with ppv 14%. After that i went to fetomaternal usg (detailed scan) and my OB said everything is normal. I didnt do amnio or another test further because i am too afraid with the result. Everyday i still a little bit worried about my baby’s condition. Right now, i just praying and hoping that my baby is normal.

    • Lan   

      Thank you for this it has helped a lot we tested high risk for monosomy x (Turners Syndrome) too yet our 12.5 week ultrasound shows no anomalies. We are 13 weeks now and have been so stressed out about this basically already grieving the loss of this baby, but your post gives us hope xxx

  • Imran Afzal   

    I've been following the posts ever since we received a 1 in 43 change of Down's (Quadruple test).

    We had to wait 10 working days to receive the results of the NIPT (Harmony). Wife is 37, two prior kids were fine.

    It was not pleasant having to wait that long....

    Results came back as low chance for all 3 genetic disorders including Down's. Praise be to the Almighty.

    The midwife could not tell me anything more of note over the phone and said NIPT is still new to them.

    We are so relieved but I don't feel ectastic.

    In our case I wished we never had the Quad test, it was done only after the baby could not show NT due to their position. It was not an informed decision.

    You end up on this conveyor belt of testing and worrying, thinking the worst and now even when you get a low chance result you wonder what else could be lurking as an issue.

    I pray everyone has good results with these screening tests but do realise these are just risk level/chance calculations.

  • Christine   

    This is our first pregnancy, and I am 27 years old. We received the NIPT Natera test at 14 weeks and 5 days pregnant, only because we were excited we could find out the gender early. It came back with a 50% High Risk chance that our baby has Turner Syndrome, or Monosomy X. This was absolutely devastating and shocking.

    Received an amniocentesis at 16 weeks ( 2 weeks and 4 days after initial blood draw for Natera's NIPT). Hoping, and praying that the NIPT is a false positive.. should get the initial results from Amnio (FISH testing) in 1-2 more days.

    • Sarah   

      Hi Christine, we’re on the same page.Now waiting for the official amnio results after being rold that the FISH test is normal.I’ll include you in my prayers.You’re a strong mom!

    • Felicia   

      Hi Christine and Sarah, we are on the same page too. I am 26 years old and this is my first pregnancy. Please let me know how about your amnio because i dont have strong enough to do that. I hope our babies are healthy and normal. Gbu

    • Lauren   

      Hi Christine, Sarah, and Felicia! I’m in the same situation. I go for my amnio on Monday. I pray we all have good outcomes, and false negatives.

    • Ha   

      Hey ladies, did you end up getting your results? I was tested positive for turners syndrome as well. will likely get the amniocentesis to solidify the results. Hope y'all had false positive results.

    • Christine   

      Update: all final amniocentesis results came back that our baby’s chromosomes are perfectly normal, with no signs of any abnormalities or missing pieces.. the final results took over 4 weeks to receive. If I ever do the NIPT testing again, which I don’t think I ever will… I would want to do it as early as possible..

  • Lisa   

    I'm 27 years old, 14 weeks pregnant with my first child. Yesterday I got a worrying call from my gynecologist, informing me my NIPT test showing a 20 % chance for a mosaic Trisomy 3!! She told me never in her career, one of her patients have been connected to this type. It's extremely rare. It is possible that the placental cells created a false result.

    I was devastated and cried my eyes out. After finding this article and reading your stories I got new hope that this is just a false alarm. First ultrasound scan showed no abnormalities as did the 1st blood test (chances of a defect were low 1:2700) but since we could afford it we went for the Nipt test anyway.... Having my consultation appointment next week, will keep you informed about the outcome and further measurements (amniocentesis) . Curious if anyone of you ever got diagnosed with a rare trisomy disease 1-11 and what the outcome was?

    • Hiral   

      I got similar case as you with Trisomy 21. There is possibility identified in anomaly scan today. Advised for NIPT test or Invasive test. Can you please share your experience after NIPT? Was that test able to help really to diagnose any risk?

    • Lisa   

      Hi Hiral, first of all very sorry about the late reply I didn't check this thread for a long time.

      I'm very happy and relieved to share that the amniocentesis at the end didn't show one single indication of a chromosome anomaly. They made a quick test (FISH) and a result from cultivated cells showed nothing worrying. Ultrasound ok too, baby is very active

      I'm now 32 weeks and the only slightly worrying thing they found was an ovarial cyst within the baby, but it should disappear after birth. Nothing to do with chromosomes.

      So like any others in this chat, the NIPT showed wrong results. All these weeks in pain and sorry were in vain and I regret doing this test. At the end it's up to you if you want to have it done, but I certainly won't do it anymore in the future (unless there's a medical indication)

      All the best and I hope this helps!

  • Katharina   

    Hi, just sharing my experience here about the NIPT test (Panorma in my case). I´m 39 years old and was 14 weeks pregnant at the time of the NIPT test. Ultrasound did not show abnormalities, but I still wanted to be sure there was nothing wrong with the baby. Results came back nearly 3 weeks later with high risk (9/10) for
    Trisomy 18. Of course, I hoped that these results were a false positives, but I planned for the worst as statistics are mostly right and even if there is a little percentage of wrong indication - the risk was there. NIPT is not a diagnostical test so it is incredibly important to get a proper diagnosis via amniocentesis or any other method. I was scared of the wait for the test results. I got scheduled for Amnio one week later and my baby had already taken his own decision at this time. There was no heartbeat anymore. I went into hospital for medical abortion the next day and it showed that the fetus was deformed with an open skull and more. My baby went back to the stars a. If I ever get pregnant again, I´d do this test as early as possible in week 10- I would like to as early as possible if there is any sign of abnormalities. Alternatively I´d to the amnio, but it saves me 4 weeks of time in the best case. These were dark hours in my life and I can only advise you to keep a cool head, wait for diagnostic results but don´t hang on to the last straw of hope. I´ve seen many questions here that promised to come back with the results, if they knew more, but they never answered. Hope for the best, but plan for the worst. Good luck all mommies, I wish you all the best. And don´t forget even in your darkest hour, there is the sunrise in the morning again. A fresh start.

  • Mai   

    I hope my personal experience gives the future reader some hope. I wrote my first response to this article in 10 May 2020. You can scroll down for more details, but wanted to write my update here as I received our genetic testing result today. The diagnostic genetic test result today proved that the NIPT test conducted at 10 weeks pregnancy last year was not true (thankful to the creator). I spent a bit over a year worrying that something might be wrong with my baby 💔 what bothers me the most was the way the OB marketed this NIPT. Even when that came back with “high probability for Microdeletion syndrome” , she acted as if that result was a diagnostic one. She was sticking to her “NIPT test has high accuracy percentage”. I initially decided not to do the invasive testing to further investigate NIPT result while pregnant (due to possible small chance of miscarriage, as I was told). Then when baby was born , I told them about that NIPT result. They did all the testing they could think of but everything seemed normal. In April 2021 , I finally took my baby to do genetic testing for Microdeletion syndrome. Today, our genetic doctor tells me that results came back normal. No Microdeletion syndrome detected (thankful to the creator)

    • Chelsea   

      Thank you for your post. I just found out today from my NIPT result that I have a high chance of micro deletion. I was devastated hearing the news. My doctor is going to do further testing and has referred me to a genetic councillor. I am still so terrified as you literally don’t know what to expect. I really hope in the end I get the same result as you. Thank you for sharing your story

  • Phoebe Noble   

    Hello....Has anyone else received a high risk result for Trisomy 5 in their NIPT test?

  • Tej   

    Hello Everyone,
    This is regarding my wife's sequential screening and NIPT test results. She is 37 years old and this is our first pregnancy.
    1. Sequential screening came with a risk of down syndrome for 1 in 7 where PAPP -A levels were low i.e. 0.23. Rest other factors like nasal bone, hcg levels and nuchal were all normal.
    2. We also took NIPT (harmony) test which came back negative for any abnormalities.
    These results seems a bit confusing so we had the genetic counselling which provided us with an option to go for amniocentesis diagnosis to get better results. This test does have some miscarriage risks associated with it like 1 in 500. We are not sure if we should opt for this test looking at the risk. We would appreciate if someone who has faced such scenarios and share their experiences.
    Thanks,
    Tej

  • Lisa P   

    Hello!

    Just received Inconclusive NIPT test results for the second time, blood draws done past the 10 week mark so there should have been enough DNA from the baby. The results were normal for my NT scan at 14 weeks. My BMI is normal, no health issues. Not twins. No clue what the brand name of the test was. They told me the second inconclusive puts me into a higher risk category for possible chromosomal abnormalities and they’ve scheduled me for genetic counseling and another more intense ultrasound.

    I asked online in one of my mom's groups on Facebook about anyone who has undergone this same thing. NOT a scientific study here, but the results of my mini-Facebook study which is not scientific at all but...

    .... 13 different stories of women with two inconclusive results, who all went on to have babies without chromosomal abnormalities. 0 stories with inconclusive results with a baby with a chromosomal abnormality.

    • Dee D   

      Hi Lisa,
      My first NIPT test was done just a bit too early, it came back with not enough cells "inconclusive." My second test was done at 11.5 weeks, I just got these results and same thing. My doctor has made me worry as she stated they have "never" seen this before... rather shocking to make such a bold statement to a pregnant woman! Now, I have to go back to give blood for a 3rd test because my initial test was considered too early. Were you able to find anymore information or do you have any updates from your personal experience? I truly appreciate any insight!
      Thank you,
      Dee

    • Kelsey   

      I have had 2 inconclusive NIPT blood tests as well. I go in 2 weeks for an amnio and I'm so stressed out. The ultrasounds look great but they don't know what the underlining problem is to no genetic results. I'm scared and have gave this to God. However I'm terrified. How did your results turn out?

  • Heema   

    Hi,

    I am Heema and 38 yrs old. this is my second pregnancy. I have a 9yrs old healthy boy.Though my double marker blood test says " The probability is 1:694 for Down syndrome and the screen test is negative", By Age the Trisomy 21 shows 1:171 and there is a risk. My Gynac advised for NIPT and i see a mixed comments for the accuracy and i am really not ready for Amnio . The NT scan taken on 12+ week was absolutely normal as per the report. My husband and myself are confident that baby is healthy and showing growth as per the week. Let me know if i really need to take up any further test

    Sending luv and posititve thoughts to all the moms to be lovely ladies.

    • Jenna   

      I got NIPT done at 13 wks, results were normal but at 16 weeks got the quad test and came back 1 in 47 chance trisomy 21. Hospital sent me the genetic counselor who offered me a second “more complete” NIPT test or aminocentesis. Asked also if I would terminate the pregnancy if need be. Because of all you ladies here I decided to go straight for amino since it’s diagnostic. If I did the second NIPT instead what if it gave some bad news and then I’d have to go for amino anyway to confirm. Rather not waste any more weeks on that second NIPT esp if termination was on the table. My amino results came back normal. Thank God in heaven. The amino wasn’t bad, I’d recommend it for ease of mind.

  • Yamila   

    Hello Im 35 yrs and 19 weeks pregnant with my first baby boy after having 4 girls. I have my NIPT test when I was 12 weeks pregnant. Everything was normal with a 98.7 % of no aneuploidy detected for trisomy 21. Then at 16 weeks pregnant I have the maternal quad screen and I came back with a 1 in 109 increased risk for Down síndrome. Im very confused but Im going to stick with the NIPT test result which is 98.9% accurate according to my doctor. Maternal Quad screen is 75% accurate. I will not gonna go through an amniocentesis. Please best wishes for me and my baby.

  • Milena   

    Hi
    I'm 20 weeks and just got a call from my gentic counselor today that my maternit21 plus (NIPT) test showes that our baby boy has 99% down syndrom. We now have an appointment in 2 days for amniocentesis.

    Who had the same results but a negativ amnio diagnostic?

    • Adriana   

      Hello! I’m currently in the same situation, Im scheduled for the amniocentesis Monday. I would like to know how it went for you? Thanks

    • Jessica Perez   

      Hi I got the same news today was wondering how it went so far for you was it accurate?

    • Tala   

      Can you please update us with the result! I am all stress out and in the same boat. It’s heart wrenching.

    • Milena   

      Hi everybody

      I'm sorry for the late response, I never got a notification that someone responded.

      I totally understand how you feel. My husband and I went through the same emotional roller coaster that you are going through when it was confirmed that our Baby Boy had trisomy 21.

      I just gave birth to our son two weeks ago at 34 weeks. We just received our final genetics test after his birth confirming his DS.

      What I can share with you from our experience so far is that we gave birth to the sweetest and most adorable baby boy. After learning of his DS we did lots of research and learned that these kids are very special and unique and filled with love like any other child. You will have some bumps on the road but you will look back and forget about all the anxiety and fear you're experiencing once you look into his/her eyes and see their smile.

      Stay strong, educate yourself, and reach out to someone that's gone through this before. All I can tell you is that it is all be worth it in the end, you are one of the lucky few parents that are gifted these special children.

      All the best for you,
      Milena

  • Cottereau Xaviere   

    Hello, I am 37 year old and pregnant with my 1st child.
    I had a prenatal DNA screening test (blood) done at 10 weeks that came back positive for Distal 18q deletion syndrome. I was told that it could be a false positive, that it could either come from me, the placenta or the baby. I was then told to have an Amiocentesis done at 16 weeks. I am now 14 weeks on and the wait is unbearable. Also I am petrified about the amio procedure and the chance of it causing a miscarriage. Has anyone had a similar experience? Good or bad outcomes? Thank you.

    • Stephanie   

      Hi all
      With regards to the amniocentesis questions, I too was extremely worried with regards to having this done, but after having an Nipt: harmony test done that told us out baby was very high risk for trisomy 21, we felt we had no option but to go forwards with this. I had already had a baby that was 8 weeks prem so was concerned with regards to miscarriage or other issues. The hospital I went to is a leading hospital for premature babies/ maternal issues and they advised the risk of miscarriage is so very low. The amnio itself is slightly uncomfortable but that is all. I had no spotting, cramping, issues after. Unfortunatley the news wasn’t good for our baby - we glad we had the test and had the options available to us in how to proceed. Best of luck to you x

  • Rahul   

    I hope someone find some help from our situation.

    My wife is pregnant with our first baby, in 12th week scan, there was absent nasal bone, 3.8mm NT and tricuspid regurgiation. All the factors were pointing to high risk for chromosomal abnormalities. We were shattered, we couldn't believe it. I have a sister with Intellectual Disability so we were connecting the dots.

    Doctor suggested NIPT test. It was a horrendous week as slowly we were coming terms with the reality that we likely will have to kill our baby. After a week we got NIPT test and it was all low risk. We were elated but at the back of our mind we still were held back since we both have anxiety.

    However Doctor suggested that since there NIPT is low risk and amino has 1-2% risk for miscarriage instead we can go for early anomaly scan in 17th week. We are just holding our finger crossed for the last week of april 2021.

    We are already in love with our baby and have decided to go ahead if there is anything minor and non life-threatening.

    • John   

      Hi Rahul

      My wife and I are in a similar boat. My wife is 32 and we are due our first child in September. We had the NIPT test down at 10 weeks as it was offered and being our first we thought it was just normal practice. It came back normal, our 12 week scan was delayed because of Covid and we had it at 14 weeks with the related blood test and again no issue were noted. My wife then went for a scan at 18 weeks and the doctor noted that the baby has hypoplasia nasal bone and that this was a soft marker for DS. Given Covid restrictions my wife was in the clinic on her own and completely shut down when the doctor was speaking. It was a massive shock and we didn’t know what to think, what kind of % chances we where talking about etc. we went back to the clinic the next day and the doctor spoke with both of us and it provided some bit of reassurance, but when my wife was back with her obgyn last week it seemed to make her more anxious.
      We have 19 weeks left and don’t want to do the amnio due to the risk however low it may be and know we will provide the child with a good family environment no matter what. But still the not knowing plays on the mind and has me praying for a healthy baby

      Hope all works out

    • Juhi   

      Hi! Hope everyrh went well for you and your wife?

    • Lisa P   

      NIPT should have 0 risk to baby because its just a blood draw. One doctor told me 1/500 is risk of miscarriage from Amnio, and another told me 1/900. Either way, its not 1%.

      I know that must be hard and anxiety-provoking.

      If it makes you or anyone feel better, I have met many people with Down's Syndrome in my line of work, and they are some of the sweetest people. They usually do need help for the rest of their lives, but after a parent dies, the state can provide resources to help them maintain independence. Most people with Down's Syndrome are not in a hospital like setting, but rather in a group home setting, cared for by the state, in an actual home with other similar people who also need care and they can be quite happy. If I knew for sure my child would have Down's Syndrome, I would not end my pregnancy.

    • Louie   

      Hi Rahul

      We are in a similar position

      Hope it all worked out?

  • Mb   

    Hi from the US. I'm 41 and 12 weeks pregnant. I got the NIPT test results back this past Tuesday and it was indeterminate for Trisomy 18 and was flagged. The comments said that it saw a greater amount of chromosome and it was referring to 18p, the short arm of the chromosome, as my genetic counselor explained it. My fetal fraction was 10.8%. I go for a 2nd ultrasound on Monday. My first one was done at 10 weeks and then an amino at 16 weeks. My genetics counselor that it could go a couple different ways. It could be extra genetic material on the short arm floating around in my blood, a false positive, or a piece of genetic material on the short arm of the chromosome in the baby. Has anyone had any experience with the test coming back as indeterminate and then the test results after that come back one way or another. I'm trying to stay positive and have hope and faith.

    • Rr   

      Reading this article during the 4 day wait in between getting a ‘screen positive’ for trisomy 18 and the amniocentesis test really helped as I did not understand the false positive rate at all.

      I had a low risk combined screening test but wanted the NIPT anyway.

      The first set came back as inconclusive. The second set came back as high risk for trisomy 18. It was expressed as a 2:3 chance of having it.

      I had an ultrasound at 16 weeks that showed soft chromosomal markers. Brain cyst and heart calcification so they recommended amniocentesis.

      I had an amniocentesis (uncomfortable but bearable) and it came back clear for all three trisomies. They now say the soft chromosomal markers are to be disregarded as they can sometimes go away or be present in babies without issues.

      I feel so incredibly lucky we have had this outcome and my heart goes out to people either waiting or who have not had the outcome they wanted but hopefully for those waiting this will give some hope.

      I really regret taking the test to be honest as those days in between were possibly some of the worst I’ve ever had.

      I wish everybody waiting there best luck in the world.

    • Haley Skapetis   

      Hi did your baby end up having trisomy 18? I got the exact same test results as this and I’m waiting on my amniocentesis results

  • Alexis   

    Hi everyone,

    I’m a 32 year old, healthy female that got the Natera Panorama test done at the recommended time frame (10 weeks). Tests came back completely normal (low risk) with a fetal fraction of 5.8%.

    I then went in for my first trimester screening that showed a nuchal transparency of 3mm and blood work that came back with a ratio of 1 in 21 chance of Down syndrome.

    I’m now faced with a choice (currently at 13 weeks) to have a CVS done and can’t decide due to the risks involved.

    Are false negatives this common? I’m stricken with anxiety and worry as you can imagine... any words of experience or advice would be greatly appreciated..

  • Jfa   

    I’m in a very similar situation. 38 y/o had a miscarriage in November 2020 at 9wks. Tried again and got pregnant, found out in January 2021. Had my NT scan at 11w2d and found 4.6mm with septated cystic hygroma. NIPT came back high risk 9/10 for trisomy 18; low risk for everything else. Amnio is set in 1.5wks to confirm diagnosis. Met with MFM and genetic counselor.

    It has been an emotional roller coaster but I just want to enjoy having my baby with me, no matter what the outcome is.

    Sending everyone prayers and positive thoughts.

    • Michelle   

      Hey Jfa. Any follow up?

    • Laura   

      Hi my best friend is the same results, you got some updates?

    • Aman Malhi   

      My NIPT says 99/100 T18. Going for CVS. Did your amniocentesis results flagged T18. Please let me know

    • Jfa   

      Hey ladies, unfortunately 3 days before I was scheduled to have an amnio- I lost my baby. We’re taking a break right now since we had 2 miscarriage back to back. I hope you are all doing well.

  • Gsd   

    I would love to know how everyone found the amniocentesis test?

    How many had the test done only to find false positive NIPT test for Turner Syndrome?
    Searching for some hope

    • Meghan Ulloa   

      Hi! I know I’m late in responding but I’m in a very similar situation. I took the nipt test at 10 weeks and was screened for Turners syndrome. I had my amnio on Friday (I’m now 17 weeks) and received an inconclusive result today. I should know more on Tuesday. It has been very stressful, especially this week. I love reading about all of your stories- it makes me realize strong women are! I’d love to hear how your amnio went and if you received news of a positive Turner and if so how you proceeded. Best of luck!!!

    • Lauren   

      I’m in the same boat! How did your amnios come back?

  • Weaver   

    MyNT scan showed increased fluid in the nuchal fold (3.3). I am 40 years old and concieved via IVF. I got my NIPT results today and they came back as abnornal. The lab did not quantify with a percentage and I was not told which trisomy my baby was positive for. They suggested an amniocentesis. It’s scheduled....I’m 14 weeks and the results are not likely until I am 18-19 weeks.

    Most of the women posting have not shared their amnio results which leads me to believe that they confirmed the original diagnosis.

    I’m not hopeful.

    • Michelle   

      Hello. Any follow up?

    • Dance23   

      Did you have genetic testing with ivf?

  • Victoria   

    I'm 37 and 14 weeks pregnant and just got a call from the midwife with my screening results. My results came back from my scan and blood test as having a 1 in 67 chance of DS.
    Everyone else seems to have a percentage in chance so I'm not sure how high my chances are? I'm still trying to understand it all and I have the amniocentesis on Thursday.
    Has anyone had a result like this initially and then received a negative result after the amnio test?

    • Linda Graham   

      Hi,quite a few years ago,I had a 1 in 10 risk for the baby having Down’s Syndrome.Had an Amnio & everything was fine.I would not have terminated the pregnancy even if the outcome was not as I hoped - just wanted to know.

  • Amanda LaVigne   

    Hello!

    As most of you are in similar situations as me.


    Mine is a bit different. I have not seen anyone with a situation similar to mine, which does give me a bit of hope, that the results may be miscalculated.

    There are not enough cases like mine as mine and I hope that this may give some of you out there, in the same boat as me, some relief.

    I would like to share my personal situation.


    I am currently 18 weeks pregnant, with a seemingly healthy baby boy, via multiple ultrasounds. I was tested with the quad and they told me that my results came back for high risk of Trisomy 18.

    Here is my story. And the variables are all over the place.

    I was pregnant and at 8 weeks I miscarried. I only bleed for 2 days and then nothing for 3 weeks. I then began bleeding, again and assumed it was my menstrual cycle kicking back in. (I am very regular) I bled for one day and it was gone.

    Another two weeks go by and nothing, but something didn’t seem right. I started looking bloated and I just felt, pregnant. Mind you I do have a healthy 8 year older daughter*

    My fiancé and I decided to take a pregnancy test and guess what? It came back positive. This is just 6 weeks after my miscarriage, where I passed sack and all.

    I decided to go have a scan at a local clinic. They predicted me to be 14 weeks along! I was mind blown!! And something was telling me the entire time that I was still pregnant and the thought of possibly having lost a twin was spiraling through my mind.

    I had a few ultrasounds in between, 3D, hospital, etc, since the only availability anyone had to get me in for my first prenatal appointment was 3 weeks away.

    All of the ultrasounds showed an extremely active and healthy baby boy.

    When I finally attended my first appointment, they ran the quad screen.

    It came back high risk for Trisomy 18.

    I have done endless amounts of research and the possibility of the twin that was lost, possibly passing from trisomy 18 carries a possibility of that DNA still being present in my blood.


    I am still awaiting the results from the MaterniT 21 to further confirm what is going on.

    And even if the results come back positive, given my specific circumstances, we will be opting for amneo.

    I have also had multiple miscarriages, within the last 3 years and this can also throw your chemical balances. So there are a lot of different culprits that are causing me to test high risk.

    This is such a horrific experience and my heart is heavy reading all of the mammas going through this.

    I will most definitely keep you guys posted, when my results come back.

    Thank you, to all of you! This thread has helped ease my mind and know that I am not alone.

    • Anastasia   

      Hi Amanda,

      My situation is a little similar. I’m 21 weeks pregnant. I took the NIPT test at 11 weeks and it came back at high risk for Trisomy 18 (9/10). I took the amniocentesis twice, first at 16 weeks as the first results came back inconclusive. The second time around at 19 weeks, this time we asked for a rapid FISH which confirmed positive for mosaic trisomy 18 - we are still waiting on the full amniocentesis results. Ultrasound shows no markers and a perfectly healthy baby. I had a miscarriage at 7 weeks back in August and got pregnant with this pregnancy in September.

      We are due to speak with a genetic counselor to discuss the results.

      Hope my experience helps in any way.

    • Kasuni   

      Hi,
      I am currently 18 pregnent and I did my NIPT test on 10th week. It came back as high risk for trisomy 18 and it was the hardest thing to hear in my life. Im only 31 years old but we were trying for a baby since last 6 years.
      I did several iui but did not work and my ivf was planned on last december. However i got pregnent in october like a miracle.
      The Nipt test results gave us a big shock and I was like crazy. Then my midwife arrenged an appointment with a specialist to do the cvs in 14th week. My 12 week scan, 14 week scan all were normal and at that time but we found out my placenta is located in the back of the uterus and its hard to do the cvs. Then asked me whether I want to try cvs on that day or wait another two weeks for amniocentesis. I did not wanted to risk the baby and again waited two more weeks for the test.
      It was a short procedure, still ypu will feel the needle when passing layers of the skin.
      Results came back next day and it was negative for all the trisomys. That was like a winning a lottery for me.
      So I suggest if you have a high risk Nipt, go for a diagnosis test and dont lose your hopes until that.

    • Jfa   

      I’m currently in a very similar situation. I had a miscarriage November 2019 at 8wks. We tried immediately and found out that we were pregnant January 2021. I had my follow up ultrasound at 11wks and NT measured at 4.6mm, had the worst news that baby has cystic hygroma associated with chromosomal abnormality. NIPT came back high risk for trisomy 18 (9/10). I’m currently 13w2d and waiting to get an amnio done to confirm in about 2 weeks.

      I’m just trying to get a little bit of hope that my baby is normal and healthy...

    • Joanna   

      Hi Amanda,

      I hope you are keeping well.

      I believe I might be in a similar situation to yours, would you mind letting me know if you already had an amnio and was the result of the previous test a false positive?

      I am 14 weeks pregnant and my NIPT test came back with a high risk of Trisomy 18.
      All ultrasounds show a perfectly healthy girl with beautiful hands, 5 fingers and a really well shaped head and legs.

      I am super confused and stressed but I am also hopeful.

      I would like to know how your situation evolved with time.

      All the best,
      Joanna

  • Lilly   

    Can anyone share their experience with turners syndrome. I was told all my bloodwork was fine then got a call the next day saying that the NIPT came up positive for Turners. I’m 37 and I’m in my 14th week now. I’m devastated and lost. Scheduled for another ultrasound but my NT was perfect. I just don’t understand

    • Alyssa   

      Same situation. Nipt came back abnormal for turners. I wish I never took the test. Since the test is as accurate as a coin flip

    • Selena   

      My cousin has Turners syndrome and I honestly had no idea there was anything wrong with her until she told me why she could not have children. I feel this is not as bad of a defect as people may think. She is a well human whose fertility has been impacted. Fertility is something you can never guarantee in your babies anyway though.

    • Kristy Wamsley   

      I am 13 w 1d and we did the genetic testing and they could not determine the sex of the baby and said it was an abnormal finding. This is my first child and I'm a wreck. Everything came back low risk besides this. I spoke to genetic counselor today from the company Natera that did the test but have a more depth one in 4 days to go over family history etc with a high risk maternal genetic counselor. I am so worried and this is just so upsetting. Possibly turners. This is so hard.

    • Meghan   

      Me too! I’d love to know how this turned out. Sending my prayers

  • Stephanie   

    Hi everyone. I don't know why I'm still on here and torturing myself.

    But here's my story.

    I'm 30 years old. Have a very health, 6 year old daughter. We were so excited to expect my second this upcoming Aug 2021.
    We went for a scan and found the nuchal translucency of 8.8mm. Follow up in 2 weeks it was 11mm. But then it turned for the worst.
    Baby has an extra heart chamber, swelling around its brain, all the organs, and I had a 95% chance of miscarriage. We have done all the screening, and it has come back positive for Down Syndrome.
    My sweet little babes doesn't only have downs, but has every odd against him or her for survival.

    My heart is shattered. I'm sad, angry, unsure why this is happening and wish it wasn't real.

    Im basically sitting here waiting for my baby to die inside of me.

    If your sweet babes has down syndrome and doesn't have any other issues and has a chance a survival, give them a chance. I work with people with DS and they're the sweetest, kindest people you will ever meet.

    I wish you all happy and health pregnancies xoxo

    • Gsd   

      I had the same experience as you, but we chose to terminate at 15 weeks. Possibly the hardest decision we had to make after 11failed pregnancies, but we know it was the right one to make.
      1 more failed pregnancies & I'm now in my 13th pregnancy and just got NIpT results for 40% chance of Turner Syndrome. Got the call today and worst news I could've received after feeling so positive. What the future holds i have no idea.

  • Jane   

    I had the NIPT screening which came back 98% chance of DS.
    Went for CVS test and initial results came back showing all was normal, but we have to wait a further 2.5 wks to be 110% sure.
    The wait is driving me crazy, has this ever happened to anyone else?
    Dr reassured me that the CVS completely backed up the normal scan I had at 12 weeks.
    I don’t know what to think, it seems like a sick joke.
    The news that the NIPT showed 98% DS devastated us, we only went through with the CVS test to go through the motions, only for that to turn out to be normal.
    I was happy for one day but now I’m wondering what if this is wrong as well?
    Feel like I can’t cope waiting over two more weeks.
    Any advice welcome

    • Cristina Cruse   

      Can I ask what ended up happening? I’m
      I’m the same boat, well kinda I get my cvs and scan on Tuesday And it terrifies me to be confused if they say everything looks normal

    • Magdolys Arencibia   

      Don’t miss the amneosentesis. It will give you the right and sure answers

    • Johanna   

      hello I was wondering how did everything turned out im in the same boat now and iam sooo scared

  • Drab Ttip   

    Hi!

    I've found this article helpful when we screened positive for Edwards’ syndrome. We did a amniocentesis 2 days after and the result confirmed that the screening was a false positive and there were no known chromosome disorders. My wife is 33 years old and we found out the hard way that this test does not perform for the population risk group she fits in - as she is younger and bears a lower chance for chromosome disorders.

    During the time in between we also got to know what the NIPT test actually is and its efficiency as a screening test vs. a diagnostic test. The marketing statistics are misleading to say the best. One needs to look at the positive predictive value (PPV) to actually understand how effective this screening result is and it is very important to understand that this predictive positive value changes depending on the risk group the test is performed on.

    Unfortunately, we were the ones that failed to process the information properly in the very beginning. We were given in a NIPT leaflet by our doctor that pointed to a PPV of 50% (that is, 1 in 2 positive screen result will be a false positive) for Edwards’ syndrome if the mother has an age lower than 35. If we had stopped to think properly, we would have seen that PPV of 50% is very low value and that we would most likely end up having a amniocentesis for getting a confirmation of it.

  • Bre   

    Hello!! From the US (:

    I’m 24... and at my 12 week NT scan, my baby had a 5mm cystic hygroma on the back of her neck. My ob said which is a soft marker for downs or a heart defect. She said that my baby had a prominent nasal bone and so far, everything else was looking great. She then referred me to a maternal fetal specialist and the CH went down to a 4.2 - which to me was great news! The specialist wasn’t seeming too concerned about everything, and with his best educated guess, If there was something wrong, he believed it would be turners syndrome. Well... I revived my NIPT back today and my ob called and let me know it came back positive for Trisomy 8... she said that it’s extremely rare and she’s never had a patient have this come up on their blood work before. She didn’t really give me any numbers or statics on it but she had me schedule an appointment with the specialist again and now I have a detailed ultrasound and the amnio being done on 2/18 when I’m 16 weeks in a few days... has anyone had a positive outcome where the amnio proved the NIPT wrong? I’m really trying to remain hopeful and positive here because it has been a rollercoaster of emotions... no one ever wants to hear that their babies “possible diagnosis” is fatal. Really praying she is going to be okay! I’ll update after I have the amnio done!

    • Kristin   

      Hello,
      I am in the same situation.
      I get the results of NIPT and it was positive for Trisomy 7 (that is also very rare). My first screening was good.
      I will also do the amnio at 16th weeks. I am 14 now and the time is kiling me.

      Did you get your results from your amniosintesis?

      I wish you all the best.

    • Alexis   

      Hi Bri, did you get your results I am in a similar position. I am 27 and had an a or am NT scan but normal NIPT. Trying to decide if I should do amnio or CVS. Hoping for good results for you!

    • Hailey Cole   

      On Monday, February 22nd, 2021, my doctor called and stated that my results came back positive for Trisomy 7 as well.
      I have SCOURED the internet looking for anyone in my same situation and this is the first post I've came a crossed. Have either of you found out any more information? I just turned 30 and we are 14 weeks right now. We have our appt with Maternal Fetal Medicine this Friday.

    • Bob   

      My Wife and I, did twice the NIPT and was positive for Trisomy 7. Now we are offered to option to do Amniocenteses.
      I read in the comments that Kristin and Hailey had also the same results for NIPT - please if you can share the latest updates we are eager to know what happened and will help us make this decision.

      Bre, can you please update us with the results ? As far as i understood, Trisomy 7/8 are both extremely rare.

      Much appreciate everyone , lots of love.

    • Janice   

      Does anyone have an update on this? I am 35 and 12 weeks pregnant. Our NIPT results came back a few days ago with positive Trisomy 8 and we have an amnio scheduled for 5/15.

      The doctor said there is a chance its a false positive or only placenta is affected. But after doing some research, trisomy 8 is so rare that it sometimes won't even show up in amnio. I am totally freaking out... not sure what to do at this point but just wait until our amnio in 3 weeks.

    • Ludo   

      Hello, we are in similar case, positive result in NIPT for trisomy 9 and waiting for amnio results. Could you please update With your results? Thanks and wish you all the best to all in the same situation

  • Darren   

    Hi my partner has just had our first scan at 12 weeks ( she was showing 14 weeks on scan) and scan looked good in terms of baby size and fluid behind head 2mm.

    The blood tests show low chance of DS but an increased chance of Edward syndrome and Patau syndrome. We have just had a NIPT test done and awaiting results this Tuesday, the odds the gave us was a 1 in 9 chance has anyone been through the same as I'm in a total daze everyday worry what the outcome will be.

    Thanks

    • Laura   

      Hi, I am in the same situation and would like to hear your experiences. I am currently 12 weeks and have come back as high risk of Edwards and Patau. I have had what I believe is the NIPT test today and hopefully get the results next week.
      I would really like to hear how you got on.
      Thank you.

  • Pt   

    Would the author be able to cite how she gets to her statistics?

    As far as I can tell the Harmony "99% accuracy" claim comes from the study Stokowski et al. Prenat Diagn. 2015 Dec;35(12):1243-6. Having done a quick web search, this is the extract from the results of this study:

    Results: Targeted cfDNA analysis with microarray quantification identified 107/108 trisomy 21 cases (99.1%), 29/30 trisomy 18 cases (96.7%), and 12/12 trisomy 13 cases (100%). The specificity was 100% for all three trisomies. Combining this data with all published clinical performance studies using DANSR/FORTE methodology for greater than 23 000 pregnancies, the sensitivity of targeted cfDNA analysis was calculated to be greater than 99% for trisomy 21, 97% for trisomy 18, and 94% for trisomy 13. Specificity for each trisomy was greater than 99.9%.

    So the "99% accuracy" would appear to be some average of the sensitivity for the three types of trisomy. Importantly this is saying that the test accurately identified 99% of cases of trisomy - not that the test was correct 99% of the time. This is obviously a huge difference and much better than a "a dummy test that gave everybody a low chance result" as described by the author which would have a sensitivity of 0%. The false positive rate of 0.1% given by the study is completely contradictory to the one given by the author of 20%. Perhaps this article is aimed at NIPT more generally rather than specifically for Downs syndrome.

    Would be very helpful if Catherine or someone could clear this up...

    • Catherine Joynson   

      Thank you for your comment. The figures we used came from a systematic review of 41 studies (see footnote 2 above), and if we're talking about sensitivity etc they are similar to the figures quoted in Stokowski study (eg 97.3% specificity for Down's syndrome in higher chance women).

      However, my point was that, at the time of writing, many clinics used terms like '99% accurate' on their websites without explaining what this means. It might be that they clinics are referring to sensitivity and specificity figures from published studies, but what average pregnant woman knows what these mean?

      The Advertising Standards Authority published an enforcement notice on this in Jan 2020, which states that clinics should avoid using detection rate figures in their marketing communications. If they do include them, the detection rate figures should be accompanied by robust Positive Predictive Value figures, alongside explanations of both figures so consumers can understand what they mean. See https://www.asa.org.uk/resource/enforcement-notice-nipt.html

  • Sarah Goldberg   

    I'm 38 and 16 weeks in my second pregnancy. Had the nipt and everything came back normal. Just got my second trimester screening results back and had a positive screening for Downs. Has anyone experienced this? I had my first trimester screening, but apparently it was never processed so I don't have that to go off of. Wasn't able to do the nt ultrasound due to having covid exposure, so don't have that either. Going to talk to a genetic counselor again this week, but so confused right now!

    • Rb   

      mine was the opposite. Only the NIPT came back positive for Mosaic Trisomy 21 - with 7% fetal fraction. I am back with my OB now after seeing a fetal specialist. ALL of my other screenings were negative, including echo. Regardless of what these companies advertise - it all still boils down to getting an amnio if you want to be 100% sure, or waiting until at birth diagnosis. Really frustrating and confusing. I only got the NIPT because it was covered and I wanted to know the sex. I've opted out of amnio and just prepping myself for either scenario.

  • Rebecca   

    Hi,

    I would like to comment that I have a baby with Down Syndrome. To anyone thinking of aborting on this basis, please think long and hard about it. I had the standard NHS scans (nuchal+bloods), all showed no evidence of any chromosomal abnormalities. The accuracy is not great; there are a lot of people this has happened to!
    Yes it was a big shock when she arrived and we found out she had Down's, but you know what? She is just a little baby and it's not a big scary thing really. Please educate yourselves properly and don't be swayed by the insidious language used e.g. 'risk' instead of 'chance', even the NHS say this on their results letters! Maybe they've changed it now, I don't know, but they certainly need to.
    The main thing is their development will be delayed and they may have heart issues early on in life. But there is a lot that can be done with their development and most kids attend standard schools. The heart issues are generally resolved, sometimes with no need for surgery (as was the case with my daughter) and heart surgery if done is usually successful. So it might be different to what you imagined, but they are still your child with their own personality, and equally deserving of love, and they usually report being happy in later life which may surprise you. I find it so incredibly sad that some people write off people with DS so quickly. PS my little girl is mega cute and has a brilliant personality. The thought that I could have killed her off just because she has a learning disability is absolutely awful.

    • Kelley   

      Hi and thank you for posting this. My NIPT result put me in 99% range for having a baby with Down syndrome. My amniocentesis is tomorrow. What is crushing my spirit is the amount of times I’ve been asked if we plan to terminate the pregnancy. I keep asking do we know if aside from DS there is anything wrong or majorly concerning with baby and they give me blank faces because the answer is no. Right now we know she might have it. I feel crazy that they seem to be encouraging termination and have been overwhelmed to the point I myself haven’t really accepted that in July she’ll be here. Your post has put the light back on this little ones arrival no matter the results. I needed this today! Best to your family!

    • Selen   

      Thank you for this post, I just got screening results that put me at high risk for Down syndrome. I had not even thought of this possibility or the possibility of having a baby with Down syndrome prior to this. It's nice to know that this diagnosis is not something that should make us all think we need to terminate. I am 16 weeks along and its hard to even bear the thought of terminating at 17-18 weeks. I don't think I could go through with it and considering your post it makes me think that maybe it wouldn't be the right thing for me anyway. thank you. -Selena

  • Pjs   

    I am currently 43 and 17 weeks pregnant. I am awaiting results from my amniocentesis which I should receive tomorrow or Wednesday as NIPT has shown I am high risk T21 >95% My scan is all looking good which is keeping me positive. My fetal fraction was 9 I understand usually T21 the fetal fraction is higher again something to keep me hopeful. I will update either way what the outcome is as I feel it’s so important to see just how many false positive there might be or where the positive was accurate. I had the NIPT with my last pregnancy which was all clear and have a healthy 22 month old. There doesn’t seem to be any analysis going on to give accurate statistics for these tests I know they are very accurate but they are diagnostic and it seems odd that hospitals aren’t collating the information to get better statistics.

    • Kabao   

      Hi Pj's,
      I'm in the similar boat. I'm 42 but 12 weeks. My test came back positive for T21. I've been an emotional wreak today. I'm thinking about the amniocentesis also. Is it painful to have that done?

    • Lynsey Peck   

      My first screening was 14% for down syndrome then I went for a NIPT and came back at 90%. I have my amniocentesis appointment . Curious as to what your results came back as and any other information you can share. I am so nervous.

    • Anna Millard   

      Hi, I’m in the same boat. AMA at 44. NT U/S was 5.3 and NIPT was 90%. We have MFM specialist appt tomorrow. I don’t know what to expect and dt COVID it will be a telemedicine consult. 🤯

    • Tina   

      I’m in the same boat. Age 39 and 15 weeks. I will be doing the testing next week. Curious, what your result was

    • Cristina   

      How was your results from the amnio? Was everything normal?
      I have a smilar sitution like you

    • Kc   

      Hi I am in the same boat. I showed high risk for Trisomy 21 at 12 week scan, even though NT thickness was in normal range etc.. my doctor was not worried and did not offer any further testing. I went on to have my 19week scan to be told my baby has cysts on a kidney and an abnormal thickening of an av valve and apparently my 12 week scan said I'm 70% chance of baby having down syndrome. Waiting to have amniocentesis test done to confirm. Everything is normal otherwise, babys heart beat, limbs, growth, amniotic fluid, NT thickness etc... anyone else in the same boat

  • Jess   

    Hey! I’m 13 weeks so I just had my NT scan, NT was measured 2.5mm, my dr has told me I’m at the high risk side of normal. I had the nipt today so am awaiting results to see what to do next.

    • Charlotte   

      Please let us know your results. Bless you x

    • Paula Lansell   

      Hi Jess I’m guessing you have your results by now. I hope everything was ok with the NIPT :)

    • Pooja   

      Let me know ur results please i am in same situation

  • Sesame   

    Have anyone done NIPT twice? My first NIPT came back negative but my sequential came back elevated risk for Downs. It is too late to redo sequential now so I am thinking to re-do NIPT. Has anyone had this experience? How accurate is NIPT, what is the chance of false negative? Thank you all!

    • Marilyn Antonaras   

      Hi I did the NIPT test and they both come back with no results saying that I had not enough fetal nuclear cells so I did the ultrasound with the blood test and that come back for 1 in 300 chance for down syndrome but what my doc didn't tell me was that is was 1 in 70 for Edwards syndrome when I went to the hospital for a amnio that had to do a ultrasound to see if the baby had any characters of a edward syndrome and they baby didn't show any on the ultrasound now im still doing a amnio at 15weeks but I have lost faith in the NIPT they say that for edward syndrome it's my age and im only 34 years old I've been trying to find put more information about how many failed NIPT Test do happen because something just doesn't feel right about it and there saying im high risk because of my age

    • Sarah R.L.   

      Hi, I'm in a similar situation to Marilyn. I had the NIPT done at around 10 weeks, and it came back with " high risk" results for a trisomey mutation, but my fetal fraction only measured at 2.7% & the test requires a 3.0% or greater fetal fraction sample to accurately analyze the DNA. So I was given a "high risk" result solely based on an equation (re: statistical probability), that includes my advanced maternal age (turn 36 this month) & other factors apparently. NO DNA ANALYSIS WAS USED TO DETERMINE THIS, just the statistics/ predictictive model. I didn't realize this at first & my OB/GYN didn't explain that detail, so I was devastated & thinking the worst. I had a 2nd blood draw & the test was redone 2 weeks after the first test, & I got the exact same results. It was only after going to a maternal fetal medicine specialist that they explained to me why the results of the test are very misleading in my case. Doctor reported that a low fetal fraction result is not uncommon for women with a high body mass/ overweight, which applies to me. I had an ultrasound at almost 14 weeks & everything screened as normal w/ neck measurements. The specialist advised that my odds of having a healthy baby are "highly probable... over 95%" because of the successful ultrasound, lack of actual DNA analysis in my positive test result, & because I have no obvious risk factors/ family history for genetic disorders. We were offered the amniocentesis for confirmation purposes, but decided against it. I'll be doing a follow-up ultrasound screen around 17 weeks to assess the baby's condition & I'm feeling good about it. We will continue to monitor baby's condition frequently with ultrasound. I hope my story can help others. Hang in there everyone ❤

  • Mary A   

    I cannot thank everyone in this group for sharing their experiences. I did NIPT at 10 wks 2 days and was informed that my results were high risk 98% chance for Downs. I was devasted. I am about to do the next steps for further assessment and diagnosis. I will be doing a the 12th week UTZ next week and planning to do the amiocentesis at 16th week. I am just at a lost at the moment and I am trying to gather strength for the sake of my 2 yr old daughter and my husband. This blog is giving me some hope so thank you. I have also noticed most of the genetic disorder mentioned was on trisomy 13 and 18. Haven't read much about trisomy 21, if you have any experience about it, it would be great to hear them. Sending you all my well wishes.

    • Paula   

      Hi Mary I am waiting results of my amniocentesis my NIPT came back with high risk >95% T21 (downs) my scan isn’t showing anything obvious so hoping amniocentesis is negative. I also have a two year old daughter. I’m currently 43.

    • Jennifer   

      Hi Mary, I am in you same shoes and am scared and devastated. I don’t have an amniocentesis scheduled as of yet, but an early anatomy scan at 17 weeks. How did your 12th week U/S and amnio go?? 💛

  • Jhumpa Bhowmick   

    Hi all,
    This is a very important blog. And it's very essential for everyone to understand that NIPT is a screening test n not a diagnostic test. My sister is 37+ from India and she is pregnant with 4 months. NIPT came +ve for Trisomy 21 and at a z score of 8.83 when normal range is within 2.2
    We were about to terminate the pregnancy. A friend suggested amniocentesis and we went for it. The results gave us a shock of happiness. So pls everyone do the diagnostic test before taking any decision. God bless you all.

    • Gupta   

      Hi Jhumpa,

      Is amniocentesis is little risk in doing it. We are planning for similar test for my wife.

    • Pc   

      hi, i am 38, in 3rd month. Our main doctor just asked us to do double marker, but another doctor is asking me to do nipt due to my age. I went for double marker and the result is normal with a risk of 1:8000 for downs. Please could someone suggest whether to go for nipt or wait till the next scan and then take a call.

  • Jill   

    Writing from the States, as I received so much comfort from this site a few days ago. My dr called to tell me that my NIPT was high risk for Trisomy 13–at which point, I lost all warmth in my body. He did go on to explain that unlike 21 (90% accurate), this was closer to a 50/50 chance. I was left scrambling to find a fetal medicine specialist (and a deep dive into the internet). I was able, from some miracle (it’s a holiday week here) secure an appointment for the following day, with a plan for an ultrasound and CVS. During my first ultrasound, there were no major issues detected, sans one closed fist, or club, which could be a sign. During the follow-up ultrasound with the doctor, he detected no negative signs (saw two open hands, good abdominal wall, “normal” feet, good neck fluid measurements, consistent size with age, etc.) that would lead him to believe there is not the presence of 13. That result, combined with spotting that started the same day (which he’s suggesting is related to a low placenta), we decided not to do the CVS. He suggested my chances are now much stronger than 50/50, and that “in his heart, he doesn’t believe this is 13”. I go back in 2 weeks for a repeat scan, and decide whether to do the CVS or wait for an amniocentesis week 15/16. All that to say, result day was awful. And, there is still very much concern. But, the partnership of the test and the ultrasound have created a very different picture, than just the test alone. I feel more hopeful than 48 hours prior.

    • Sophie   

      Hi Jill

      I'm in a very similar situation, I'm at 11 weeks and I've just found out I have a 1/2 chance of Trisomy 13. I have my 12 week scan next week and then I'll book in for the amniocentesis at 16 weeks to find out for sure. It has been challenging to hear as I don't feel I'm high risk but am hopeful the 12 week scan will give me more insight. Either way I guess I feel we need to do the amnio test to really determine it even though I don't believe it in my heart!

      I hope you've had your test now and it's good news for you!

    • Jaime Baker   

      Im currently 12 weeks and found out my NIPT came back positive for trisomy 13. The 50/50 chances are a bit unsettling but Ive had 2 ultrasounds done before I got my results and 3 different OBs had a look during my ultrasounds and none of them seemed to indicate that anything looked abnormal. I go back in a week for a more thorough ultrasound but my hopes are high that its a false positive for trisomy 13. Although if they can't conclude anything from the ultrasounds they're pushing for amniocenteses and this is my first pregnancy so that scares me.

  • Jemma Chapman   

    Has anyone had a high risk of DS with the NHS translucency screening? But had negative cvs and amino test? Looking through this thread it seems not worth doing the NIPT as the results are either inconclusive or false positives. I'm scared, anxious and worried enough and need to know sooner or later whether there's something wrong with my baby :(

    • Val   

      Hi, my understanding is the amniotic test is diagnostic so is accurate. The NIPT is more accurate than the NHS blood tests but it's not diagnostic like the amniotic test.
      I did the NIPT as I didn't want to risk miscarriage (1% chance with the amniotic fluid test)..my bloods and 12 week scan we're all normal but my age (I'll be 41 when our baby is born) put me at high risk and we had a horrible call!! so we paid for the NIPT. In the meantime we were emailed the results of the NHS tests which shows what's normal and whats the upper/lower scale of normal.. everything with the baby was bang on normal..it was my age that put my at high risk so we took some assurances whilst waiting for the NIPT results. Thankfully they were negative.

      There is more chance of a false positive with NIPT then a false negative. If your results come back as positive, then there's 20% chance they are wrong for Downs ie for 5 babies tested positive to Downs 1wont have it, 50%chance for Patau so half the babies are fine and 60%for Edwards so 3 out of 5 babies are fine despite a +ve test.
      The amniotic is the only definitive answer so if this is -ve I wouldn't have any other test...but there is a risk...I would only have the amniotic test if my NIPT came back positive.

  • Wadiah   

    I am 35 years old, i have 2 healthy boys. I am 19 weeks now. I did NIPT test and it came positive for down syndrom 99.9%.
    I am so sick, and tired after this bad news. I stop going to work. I do not want to see any body. Plan to get amenotic fluid tomorrow. Any body has similar experience?

    • Jemma   

      I am 35 with 2 children both with ASC from previous marriage. I am 12weeks and recieved a higher risk call from the screening midwife today. I am in pieces tbh. I am. Considering going to King's for the cvs/invasive test which gives 100% result but am scared of the risk of miscarriage but also scared of the result. I am thinking to have the NIPT initially but after reading this report it seems the results aren't all that good and are very hit and miss with false positives and vice versa.

    • Anna   

      Hello,I feel so sorry for you.I might be in the similarly situation.I done my harmony and they said there was not enough dna,and I need retest.My Pappa test was low chancec and now I am worry why there is not enough dna

    • Lisa Mccrindle   

      Hello how did you get on? Im in exactly the same position just waiting for my final results
      I feel so helpless

    • Jade   

      Hello, im not sure how old your post is but today I found myself in exactly the same situation as u. Can I ask what was the outcome xx

    • Sarah   

      what ended up happening with the amnio?

    • Christina   

      hello

      i am 37 and went to do the harmony test 3 weeks ago. unfortunately it came to us as well with 99.9 positive for down syndrome. we are also very devastated and we are thinking not to keep the baby after birth if this is the case.

    • Sandeep Bains   

      I did NIPT test. How your onther test results. Thanks

    • Charlotte   

      Bless you. Keep strong x

  • Beverly   

    Hi, after finally getting pregnant by IVF, we received the news that NIPT came abnormal for XXY (Kleinfelters Disease). We’re devastated, he have an amniocentesis in 2 weeks. Anyone has gone through this?

    • Marissa   

      Hey, i received the same results and have amnio booked. How did your final results end up coming back? Sending love

    • Mm   

      Hi to you both! I received the same test result yesterday and am waiting for an appointment with a genetic counselor to determine next steps. I’m wondering if you can share how the final results came back and how the amnio process went ?

    • Jennifer   

      Also in same boat at 12weekz. Can anyone shed some light from their amnio and experience?

    • Erin   

      I got my results from the nipt today for the same thing and next steps is to see a genetic counselor. Do you mind sharing what has taken place since your nipt?

    • Janine   

      Hi! I had an NIPT that came back with high risk screen for sex chromosome abnormality. We didn’t do the amnio and tested after my son was born and it turns out he has Klinefelters. Don’t panic!! He is absolutely perfect and an amazing baby. I suggest you go to a site called LivingwithXXY.org. It’s an amazing organization that will shed a lot of light on this diagnosis. Google is not the place to be when you get this diagnosis. My baby might have a few minor challenges but all kids do at some point. He’s honestly the perfect little guy so try not to be too concerned about this diagnosis.

  • Sarah   

    I received NIPT results of high risk for trisomy 21. I was told that the effect of this risk varies by age. At my age (43) I was told there’s a 97% chance that the results are accurate. Is that true? Where does the 20% come from in the post? Is that an average of all ages?
    Thanks

    • C   

      Precisely my question. Age 40.

    • Wadiah   

      I am 35 years old, i just get result of NIPT positive 99.9% for 21 trisomy which mean down syndrom. This will be my third baby. I have 2 big boys healthy.
      I am so sad, i could not drive car or go to work because of over thinking about it.

    • John   

      My wife just turned 31 on Sunday. On her birthday we got the NIPT news of trisomy 21. So devastated the last 2 days. Tears broke out and almost couldn't blow out the candle.
      When I saw the ultrasound today, the baby was jumping, I couldn't hold it together in the clinic.
      Have the CVS booked for tomorrow. Praying so hard for a false positive. Yesterday marks 12 weeks.

    • Karina   

      Hi, I am in the same situation 43 yrs old and got my Nipt with high risk for DS. I didn't the CVS but waiting for results. May I ask if you did any other test? How was the outcome? Thanks

  • Joey   

    Dear all,

    We did NIPT and the results were 1 in 20 for trisomy 21 which is tagged as high risk. Did an amniocentesis and the results were negative. So would like to tell all in this blog not to consider NIPT as final results and have faith. Do further tests if recommended.

    • Jemma Chapman   

      May I ask a few personal details... Please feel free to not answer them. But what age are you and what did your NHS screening results come back as? Mine are 1 in 53 and I'm 35. I'm wanting to have the cvs invasive to give 100% but scared of miscarrying. If I read correctly you have had this test? And all is OK?

    • Konstantina   

      Hi everyone, I am 41 yo. Finally after IVF I was pregnant and so happy.
      I decided to go for NIPT even though TN screening was normal, because I wanted to be sure that my baby is healthy. Unfortunately I received the sad news from my doctor that the results were high risk for trisomy 21. I did 3 days ago CVS and I am waiting for the results.. I am so scared, sad and worried

    • Mike   

      Hello Joey. I hope you don’t mind me asking but my wife just tested positive for trisomy 21 after a trophoblast cvs test (FISH) but with a mosaic pattern. Did you have a mosaicsm and if so more importantly can I ask how the baby is doing today? Thank you

    • Jessica Perez   

      Thank you. Thank u so much for sharing this

  • Prakash J   

    My wife is 18th week ........they did triple marker in 13th week 1st day so report shows high risk down syndrome means 1in 50 then they did quadruple test in 16 th week it shows 1in 8500 so which one is correct but NT Scan an Anomaly scan is normal...... I am fully confused please any one clarify me .... can I go for NIPT SCAN in which we it can be tested

  • A Jones   

    Really helpful blog
    Iv got a high risk of downs so I’m having a cvs. It’s just a terrible situation we have all been through

    • Shannon   

      Did your dr tell you there can be a chance it’s in the placenta and not in the baby? So the cvs test isn’t as accurate as an amnio.

  • Ln   

    Hi there, I am currently 11 weeks pregnant and received the news yesterday that there is a high risk of T18/ Edwards syndrome.
    Has anyone had a high risk NIPT result and found it was false?

    • Marilyn Antonaras   

      Hi Ln
      I received the same news im a 1:70 chance of T/18 due to my age 34 I have had two NIPT test and they had no data due to not enough fetal DNA my results came from the Nuchal Translucency scan and blood test im having a Amnio on the 24th of December i will update everyone on the news weather good or bad I feel everyone has a right to know the information that is available out there and if this helps someone so im happy to help but before the amnio I did a ultrasound at the Hospital and the doctor said that the scan looks good baby has no characteristics of T18 and has a feeling its my placenta Good luck everyone

  • Anon   

    This is such a reassuring blog. There is hardly any information available online about comparision results between a positive NPIT result for Down’s syndrome and then a following negative amniocentesis result. My npit came back as 95% chance of 21 but as this blog shows, there is only actually 80% chance that it is correct. The NT measurement is low 1.3, and there is a prominent nasal bone present on the scan so I’m hoping that the final result from Amniocentesis is negative. If anyone has actually had a false positive NIPT result I’d be interested to know. Thanks

    • Ali   

      So what was the verdict? I’m doing CVS next week as I also had a high tri21

    • Nn   

      Hello, I'm also interested in how your story pans our with regards to a high chance NIPT for downs, but normal NT measurements and nasal bone etc. I am in the same boat. Thank you

    • Liz   

      Hi, I am on the same boat as you. NT showed everything normal, the blood NPIT shows 90% positive. I have been hopeless since then. I will do CVS on Monday. I am anxious but trying to stay positive. What was your result?

    • Sarah   

      I am interested in hearing too. I’m in a similar boat, having tested positive for trisomy 21 via NIPT and told I have a 97% chance. I don’t really understand the 80% mentioned in this post.

    • Adi   

      We are in the same boat. Have any of you received news on your amnio test?

    • Mike   

      Hello my wife and I are in a similar situation Ie everything on the ultrasound looks fine but cvs came back with a mosaicism for trisomy 21. I would be interested to hear how everyone’s story ends up thank you

    • Marilyn Antonaras   

      Hi ive had to negative NIPT test and did a ultra sound and the blood test for the 13 week scan and because of the failed NIPT it put me in a high category for Triosmy18 Edward syndrome im having a amnio on the 24th of this month will let everyone know what's happened they say it's because of my age and im 34 from what I've read where all in our 30 or older and seem to come up with the similar issues

  • Pia   

    I'm 36 yrs old and had the 10 week NIPT test. Two chemical pregnancies back to back before this pregnancy which is now at 12 weeks. We only started trying this spring so it's encouraging that egg and sperm have been meeting on every try but of course heartbreaking with the losses however early in the pregnancy. This would be our first child. The test came back normal range for Downs/Edwards/Patau but inconclusive/possible aberration regarding the sex chromosomes. Arranged a meeting with a genetic counselor and seriously considering cvs to get a definitive answer as I'm so upset I don't know if I can wait a month for amnio plus even longer for results. My ob said she's had only one other patient with this NIPT result and her amnio came back healthy, so that's a ray of hope.

    • Janine   

      Hi! I had this exact same result. Low risk for everything but could not report on gender. I hate this result as it’s so vague. What did you end up doing?

    • Isabel   

      Hi! Thank you for sharing your experience. I have this exact same situation so now I am waiting for invasive testing. Would you be able to explain how all did end up going? Thank you so much!

  • Michelle   

    Thanks for this information.
    I am 32 and am 14 weeks with my third baby and this time I decided to go through a private obstetrician he recommended the NIPT (with my past two I only ever had the nuhcal translucency scan with two healthy babies) I just got my results back of high risk of trisomy 15. My 14 week scan has showed no abnormalities. They have recommended me to have an amnio at 16 weeks but am so nervous about that due to risk of miscarriage. Very confused and anxious.

    • Hanna Jacobs   

      Hi! Would you mind sharing your results? If you did the amnio
      Or whatever you ended up doing. I would really appreciate that

    • Heather   

      Hi there, I find myself in a similar situation. Any chance you can share an update?

  • Erin   

    Hello everyone, I received a NIPT test at just over 10 weeks. The results came back with both sex DNA - I was rushed to the hospital for a scan but no twin. So they are thinking a intersex baby. Was wondering if anyone has been in this position? And if it could be picking up my sex as the result was predominantly male

    • Annie   

      Did you get the right answer for gender?

  • Rashminder Kaur   

    I am 37 yrs old and pregnant with first baby.My NIPT at 13w was negative but in the 22w anatomy scan the nasal bone length was found to be short indicative of DS.They did not tell the exact measurement.Now I am so worried.Can short nasal bone alone be a marker of DS?Should I go for amniocentesis so late in my pregnancy as I am already 23w now.Reading that NIPT is not that accurate here is giving me sleepless nights now!

    • Shauna   

      Hello, I am in the exact same situation. Can you tell me what happened in the end please? xxxxx

    • Louie   

      Hi we are in a similar position. Can you please tell me what happened

      Thank you.

    • Hiral   

      Hello, I am 35 old.
      Trisomy 21 Risk ratio 1:299 detected in anomaly scan. Already in 20w , My Gyanc has not suggested any further test as there is no other marker found and rest is fine.

      I am confused and worried, can you please your experience which can help me to take decision for NIPT or amnio

  • Jac   

    It’s so helpful to read this post. I am 42 and just had a private NIPT done with my fertility clinic. It came back normal for chromosome 21,18,13 but an incidental finding was reported about a very rare genetic disorder on chromosome 7. The lab asked me to provide another blood sample to repeat the test...
    I am so stressed and anxious now. It driving me crazy...

    • Vicky   

      Hi I have had the same results can you please let me know what your next tests revealed? I’m so sick with worry.

    • Kristina   

      Hi. I have the same situation. With NIPT I get positive results for Trisomy 7 and on screening everything is ok. Please share you exspirience. Also Vicky, please share your expirience.

  • Jocelyn D.   

    Hi, I got inconclusive NIPT test the first time. Now at 19 weeks my doctor found a choroid plexus cyst. She suggested to retake the NIPT since the first was inconclusive due to low fetal dna. I’m worried sick. I have to wait at least a week just to hear back. Anyone else go through this?

    • Tammy   

      I was told the same due to low fetal DNA . I’m still waiting too 😩

    • Dena   

      What were your results after the inconclusive test with low dna? I’m currently waiting on my second test results.

  • Shannon   

    I can’t even begin to describe how helpful and reassuring it has been to come across this blog.
    I am currently 13 weeks with a Natural twin pregnancy and just had my NIPT test results come back inconclusive on all accounts.
    They speculate it has something to do with the 21 chromosome and feel that re drawing will only result in the same outcome.
    My enhanced first trimester ultrasound and blood work came back completely normal so this NIPT test has all my doctors scratching our heads.
    Being told that there is less than 1% chance this particular situation occurs is certainly far from reassuring.
    Furthermore, I wasn’t even considered high risk nor did my doctor recommend to have the NIPT test done . I figured that if I have the ability to get the test done, given it says the results are 99% accurate , it would be more conclusive than any other screenings I would ever have.
    At this point I have now had further genetic testing for myself and have amniocentesis scheduled for the beginning of July.
    It’s hard to fathom how I will make it to that point without worrying myself sick

    • Ellie   

      I’m in the same boat Shannon. Wasn’t at risk, but decided to do the testing to get more information about the pregnancy.

      Our results were “atypical” and “inconclusive” due to an abnormality on chromosome 13. It didn’t come back positive for trisomy 13, but something about chromosome 13 was off which invalidated the entire test. Now we’re worried sick that something could be wrong. We have an appointment scheduled with a genetic specialist and will most likely have to do amnio to figure out for sure what is going on. It’s impossible not to worry, but I hope your results show that everything is okay.

    • Shannon   

      I hope everything goes well for you too Ellie.
      I’ve spent countless hours reading study after study and there really isn’t many statistics about non high risk patients with inconclusive results .
      My genetic specialist said that this testing is still fairly new so this result could simply be a limitation within the test.

    • Ellie   

      Thanks Shannon,

      There’s so little information about these results! Apparently Natera just started releasing this “atypical” result late last year, which is why many doctors haven’t experienced it and there aren’t many studies on the matter. I found about 10 blogs from women who received atypical results. Every person who had this result that posted on these blogs received normal results on all further tests and are welcoming healthy babies. Of course each baby and mama is different, but I found the testimonials from other moms who had healthy babies very reassuring!

    • Shannon   

      scientific advancement is a wonderful thing .... just not when you’re the candidate for the study :|
      Not only is the atypical result fairly new but the technology that “allows them” to see which chromosome the atypical result is linked to (ie. chromosome 21 in my case) Was only released in May 2020!
      It’s so reassuring to hear to that there are other blogs with women who are experiencing the same thing.
      This is by far the hardest thing I’ve had to deal with as a parent so having a community of women who actually understand is critical to mental health

    • Kristin   

      We are in the same boat. We have 2 inconclusive NIPT tests and my only risk factor was maternal age (I am 38). All ultrasounds have been normal and I have even had a level 2 that revealed no markers. We were told that since the NIPT was inconclusive that we should proceed with the less accurate Quad test. Now that the quad test is back it’s said that we have a high likelihood to have a child with Down’s syndrome. I’m completely sick and worried but am hopeful that it’s just a false positive.

    • Shannon   

      I’m really happy to say, after all the testing, our amniocentesis has come back completely normal for both babies. No trisomy 21 as they had originally eluded to via the NIPT test.
      What a wild ride it’s been.
      I hope this gives all the mamas that have received “abnormal” NIPT test results some peace of mind (although that’s not likely - I’ve been there)
      This technology is still new and there is still a lot of room for error.
      If anyone gets an “abnormal” NIPT result I would highly encourage invasive testing to confirm whether or not that is the case .
      Wishing everyone luck and sending lots of positive energy

    • Brittney Tatom   

      That is encouraging news as we just got an abnormal test as well... because I am “in between” we have to wait two weeks for further testing so the doctors can see more. Two weeks seems like an eternity. I am happy for you wonderful outcome and hopefully we experience the same.

    • Pooja Fozdar   

      Hi shannon my situation is the same. First fetal dna was low then re tested finally Just got my nipt reports & says chromosome 21 is high so have to go in for further tests amniocentesis. Pls share your experience if everything went well ! Might put me in some peace. Thanks.

    • Kabao   

      Was the invasive testing painful? I'm thinking about the amniocentesis. I'm 42 years old.

    • Shannon   

      For those that may stumble across this feed I wanted to add a note that our twins were born very healthy and absolutely no health concerns.
      Again, while NIPT testing can be helpful, from my experience it can also create a significant amount of emotional trauma and stress on mom & dad to be. 10 months after my babies graced our world with their arrival and I still very much feel each and every mamas pain that may be going through this. There truly isn’t anything that is comparable to being told that something may be wrong with your baby
      We still have no answers as to why the NIPT test was inconclusive.
      For those that are wondering whether or not amniocentesis is painful - it’s not comfortable but manageable
      It’s not even comparable to labour so if you’ve experienced that then no need to be concerned with pain
      Sending everyone loving energy

  • Mathew   

    During the 20th week scanning it was found nasal bone is only 3.5mm and how likely this can be a reason for down syndrome for the baby? Duriing the 13th week, we have done a DS screening test and found the baby was in low risk category.

    But because of the nasal bone length the doctor suggest for NIPT or Amnio. Is it fine to go with NIPT? Is there any possibility of having DS even after NIPT falls in low risk category?

    • Shannon   

      Mathew, NIPT is only a screening so there is small probability of getting a false positive, false negative or even a no result. CVS and amniocentesis are the ONLY diagnostic tests which will tell your conclusively if there is any chromosome abnormalities.

    • Rashminder Kaur   

      Hi Mathew
      At my anatomy scan at 22w the nasal bone was found to be small though they did not give an exact measurement.My NIPT at 13W was negative.Still the doctor says that small nasal bone is a soft marker for DS.I am so confused as to what should i do now?

  • Florina Valean   

    hello, I am in the same situation as yours, I am desperate, I received a NIPT result and an aminocentesis result that my little girl has trisomy 13, please tell me from your heart what happened in your situation 🙏🏻🙏🏻🙏🏻 they didn't give me a chance, please from the bottom of my heart if someone went through the same situation please😭😭😭😭😭

    • Roxanne Walker   

      I have just gone through the same thing. Finding out that my baby has Trisomy 13 from my NIPT test. We are back tomorrow for a further scan to see if they can see any structural abnormalities to confirm the diagnosis. I feel completely helpless, useless and in limbo. Coping day to day at the moment to handle it. What are the next steps for you?

    • Sophie   

      Hi Florina and Roxanne, I'm in the early stages (week 11) and have been given a 1/2 chance of Trisomy 13 but the test is only 38% accurate so its all quite confusing! I've got my 12 week scan next week but I'm going to go ahead with the amniocentesis at 16weeks just to get a definitive answer. How has yours transpired? Sending you love and strength.

    • TiffMarie del Real   

      I'm in the same boat with my NIPT test showing T13 at 27%. Sonogram at 16 weeks with specialist confirmed trisomy 13 markers, and now doing a aminocentestis this Tuesday which I will be 18 weeks by then. I did see pernatal heart specialist and her heart is normal.
      I was hoping for a false positive but after seeing the sonogram now, i know in my heart she has it.

  • Florina Valean   

    Hi, I am 21 weeks old, the girl's heart was slightly positioned in the ultra sounds. Towards the center, I did the NIPT test and I received a high risk result for trisomy 13, I had an aminocentesis and now I am waiting for the answer. I'm desperate, was someone in my case? Did he get a good result at the aminocentesis?

  • Leslie   

    I have to admit, I really appreciate reading these stories and to know I'm not alone. To hear how many false positives are out there gives me more hope that everything will be okay.

    My story isn't much different than some of you. I'm 35 yrs old and pregnant with my 1st child. My OB recommended the NIPT test due to my age. I got the test at 11 weeks and received my results two weeks later. There was not enough fetal DNA in the sample, therefore placing the baby at high risk for triploidy, T18 and T13.

    We were able to go over the results with a genetic councilor and discuss the possibilities of how and why this could have happened, along with what we can do moving forward. It’s been one week since we talked with the genetics councilor and I've been a wreck ever since.

    The next step is a 17 week ultrasound, which from today is over 2 weeks away. This ultra sound will help determine if there are any issues with baby and if an Amniocentesis is in our future. My husband and I are doing our best to stay positive and are keeping our faith and praying everything will be okay, but I’m not going to lie, the waiting game is driving me crazy!!!

    Thank you all for your stories and giving me that extra hope that this test is inaccurate in so many ways. It truly does make a difference on my stress levels. ♥

    • Katy   

      Hi Leslie,
      Thanks for posting! I have a very similar situation to yours. I’m 34 pregnant with my first baby but will be 35 when I deliver so I had the Panorma testing done. Mine just came back high risk for both 13 &18 as well. It seems very rare and almost impossible that a baby could have both of these genetic abnormalities from what I’ve read. Everything else has been completely normal but now I’m worried sick! I repeated the bloodwork yesterday and when I receive those results we will decide what to do next. Any update on your situation? I hope everything worked out and this was false information!

    • Melanie   

      Leslie and Katy,

      I have the exact same situation. Reading this page and everyone's replies are really helping me though. I'm 34 and pregnant with my second child. My doctor called yesterday and said the natera NIPT test came back high risk for triploidy, trisomy 13 and trisomy 18. My first born has spina bifida and I have a history of 3 miscarriages, so rather than get a blood redraw, she wants to me to go see a high risk MFM to get an ultrasound and amniocentesis done.

      Did either of you get further testing done and what were the results?

    • Anna   

      Hello,how are you doing?Any updates? I had harmony test becouse I am 36 and just to make sure,I was 17 weeks when they took blood and it says not enough dna in my blood.I am very upset,they will retest my second sample.My NHS test was t21- 1-5500 ,am I that 1?

  • Melissa Hoff   

    I just received news from my doctor today that my baby has a 50/50 chance of having Turner syndrome according to the NIPT test . Doctor is sending me for a amniocentesis . Worried sick :(

    • Morganne Mandrell   

      Me too! Today. Worst call you ever get. I have done some research and I am feeling some relief. I had a vanishing twin that made it to about 4 weeks, 2 weeks behind the other one when found at my 6wk6d sonogram. It vanished, dismissed. I’ve read one of the reason for a false positive is because of a dismissed twin and it’s DNA can stay for up to 16 weeks. I’m praying that’s my case.

    • Julie   

      Melissa and Morganne - how did it turned out? And how was your scans?
      I had the same answer from the NIPT, that there is a 50% chance of Turners syndrom. Apparantly the scans look normal, but I am worried sick about my little baby....

    • Natalie   

      Hi, I had a situation with false positive NIPT test for Turner syndrome. We did a very detailed scan and no problems with heart/ kidneys/ eat were detected. We did not do an amniocentesis. Baby is healthy.

    • Rachel   

      Hello ladies just got a positive for possible Turner syndrome from a NIPT Screening. Curious of how everyone follow up turned out?

    • Cetta   

      I just got the call telling me my baby has a 50/50 chance of turners syndrome as well. I feel so lost and hopeless.

    • Melissa Hoff   

      I’m sorry just seeing the replies now to this . My daughter is 6 months now and healthy as can be ! Without an amnio the testing isn’t very accurate so don’t jump into making a decision that could change your life . When I got this news that she was 50/50 for Turners my family doctor was talking about making an appt to end pregnancy . So glad I never listened to her !!!!

  • Kel   

    First of all, thank you so much for all your comments here! It was so good to find similar cases to mine and also in a fairly recent discussion. I'm 2 weeks away from being 42yo and I'm 14 weeks pregnant.

    I had the Harmony test done at 10w+3d and it came back inconclusive (not enough DNA). Got it repeated at 12w+6d and, again, not enough DNA. I wanna think it is due to my BMI>35). I did some online research and saw that some overweighted patients were recommended the Harmony after 15w only (which my OB never recommended).

    This is the thing. I'm tall and heavy but I'm not a typical overweighted woman. I have done powerlifting since my mid 20s and my muscle mass is quite high. In the words of my OB, I'm an amazonian type of woman. Which, it seems, doesn't work well when trying to find fetal DNA in my blood at this stage of the pregnancy.

    I'm doing the pregnancy on my own (with sperm donor) and I live 23h by plane away from family. My whole decision point for keeping the pregnancy or not was based on the Harmony results and it didn't work out for me. The clinic offered me a Nuchal Translucency combined with a maternal serum biochemistry (Free Beta hCG and PAPP-A) and, from those, my initial risk for T21 went from 1/49 to 1/979. For T13/18, from 1/94 to 1/1880. I suppose it brings some relief, but not enough.

    I have decided to go ahead with the amniocentesis and it's now booked for next week. Funny enough, I have little fear of the amniocentesis, although I'm aware it has serious risks. The uncertainty of a baby potentially having also serious issues affects my mental health far more. I have been treating PTSD for a year now and not to catastrophize with the pregnancy is a constant exercise that, on some days, I fail to maintain.

    I hope next week goes ok and I can, from then on, enjoy this pregnancy fully. I do think it is my little miracle. Back in 2017 I had my fertility checked and I was on the verge of infertility. I tried IVF in 2018 and the results were so poor that I was recommended an egg donor after just one attempt. That I managed to get pregnant this year with one go of IUI, it was quite the surprise. So much so, my mind plays tricks on me, that the baby can't be healthy. But hopefully that will go away next week and I will be able to start the baby clothing and crib shopping <3

    Thank you again and best of luck to us all!

    • Kel   

      Got the results of the amnio yesterday and no trisomies. Baby seems to be just fine. I can't express in words the relief I feel. Also got to know the sex and I'm expecting a boy :-)

      It was extremely distressing to get inconclusive results from Harmony. Twice! I nearly terminated the pregnancy after the first inconclusive result and it would have been a big loss. It wasn't easy to endure the two months of uncertainty that followed but I'm glad I managed with the help of counseling and my OB.

      Hope others will get their good news too!

      Best,
      Kel

    • Leslie   

      Hi Kel, I hope and pray everything went well for you during the amnio and you are enjoying your pregnancy.🙏🏼

    • Leslie   

      Hi Kal, I pray your amnio went well and everything turned out fine so you are able to enjoy the pregnancy! My story is similar to yours and I've been a mess for the past week as I'm in the waiting game stage, so I know how you feel! I wish you the best of luck! ♥

    • Nika   

      I liked reading your story. My doctor said I have to do Karyo NITP for all chromosomes. Did anyone do that? How is this different from an NITP? What is the advantage? I am 45, first pregnancy, many IVFs in the past, doing on my own and 12 w and 6 days. Can the NIPT indicate a potential miscarriage? Thank you!

    • Jhumpa Bhowmick   

      Hi Kel,
      1st congratulations. My sister is going through the same and has done amnio, your comment gave a huge amount of hope. God bless your son.

    • Sophie   

      Hi Kel

      Thank you so much for sharing your before and after testing journey! I am 11 weeks and have just got a 1/2 chance of trisomy 13 but it's only 38% accurate at this stage. I'm trying to put it out my mind, keep positive and focus on the likelihood all is ok until I can have the amniocentesis test and confirm its health. I too have a distance thing but mine involves flying for the test and then quarantining for 14 days when I return to my home country due to COVID protocols! So much extra drama but hopefully it's all for a positive outcome like yours. Thank you again! Sending you so much love and happiness!

  • Mai   

    I am liking this blog post and do agree with many of the points discussed here. At least with my own personal experience, my OB (no longer my OB), treated my test result as a diagnostic one. Mine showed high probability for DiGoerge Syndrome. My OB was freaking out when she was discussing it with me. When I reminded my OB that this result of mine says “High Probability for for DiGoerge syndrome” , so it is not a diagnostic test, she responded but it has high % of accuracy and also gave me a percentage of above 95%. I asked her to send me my NIPT result via email. When I read it myself, it clearly mentions under notes that there are limited cases of DiGoerge syndrome that was evaluated. NIPT provides accuracy % for other syndromes like Down , but not DiGoerge Syndrome and other microdeletion syndromes. So in my case, my ex-OB lied at me. I looked for another OB and also researched here and there. Our last NT ultrasound came back normal (@12+ weeks of pregnancy). We decided not to go with the invasive testing like CVS. We are going to rely on detailed ultrasounds as the pregnancy progresses and lots of prayers for a happy healthy baby <3

    • Katy   

      Hi Mai,
      I hope everything is going well! Any update on your situation?

    • Mai   

      Thank you Katy. I am due in 14 November 2020. Currently still pregnant. I didn’t go through invasive testing to confirm. I did, however go through few detailed ultrasounds. So far, all ultrasounds came out normal (thanks to the Creator). I also contacted the laboratory directly - the one that conducted my NIPT test, to ask about Positive Predictive Value , accuracy % of the screening test specifically for the high probability result I got (22q11..2 / also known as DiGoerge Syndrome / Microdeletion ) . Here was the lab’s exact response
      “The 22q11.2 option is a relatively new option to the Harmony test which is why there have been limited cases evaluated so far. In our Laboratory, we have had several high risk results for this option. Two patients had invasive testing to investigate the results. In both cases, the deletion was not present in the baby. The other patients chose not to have invasive testing and we are not aware of the outcome as the pregnancies are still ongoing. The positive predictive value (the likelihood that the baby has the condition after getting a high risk result) of the 22q11.2 is not known due to the limited number of cases, but is expected to be less than 50%”

      I lost trust in my ex-OB, especially about NIPT - I personally don’t see she is qualified to carry out this test in her clinic.

      I am mostly doing ok - mentally -. Thankful for my faith. I continue to pray for a healthy happy baby. But when anxiety generally hits ( now that I am close to my due date and then postpartum period) , I do think about why my NIPT came back as high probability ? It is frustrating to add worries when it isn’t certain. I agree with this article about the ethical aspect of offering this screening worldwide the way it is conducted in many parts of the world.

    • Flory   

      Hi may!
      I hope everything is going well! Any good news?

    • Mai   

      Hello Flory
      Thanks for checking in. I gave birth to my baby boy on Monday 2 November 2020 (I was 38 weeks pregnant). I told the medical team about the NIPT test. All the health checks of our baby boy to date came back normal. I guess my story is exactly similar to the story of the lady in the UK (mentioned in this article). The syndrome of the high risk probability in NIPT is different. My baby is 5 weeks old as of today. I am debating whether to do a diagnostic blood test for him or not to confirm the NIPT or not. I would love to put an end to the story of NIPT with a confirmation, but I worry that if it was positive , I would be adding not needed worry into my / his life. I’ve met a genetic doctor yesterday and he told me that microdeletion syndrome is VERY broad with symptoms. Some people have it and they never know about it. Many others have mild symptoms. The symptoms possibilities (or not) varies drastically. The general counsel also told me that NIPT for this is not as sensitive as it is for Down for example. I was also told that in Germany , they don’t offer Microdeletion option in NIPT because of the reasons mentioned above.

      I am breastfeeding my baby and I don’t wanna add not needed stress / worry with our journey together. At least for the first year. I might change my mind , but so far , these are my thoughts.

      Wishing you and your loved ones well.

    • Mai   

      Hi everyone
      It is me again. My baby boy is 7 months old as of 2 June 2021. This time , I am back with genetic testing result on both my baby and I to investigate the NIPT that was conducted last year during my pregnancy. I couldn’t help it but take this step to put an end to that NIPT test because whenever my anxiety would hit, I would wonder about why we received high probability for microdeletion syndrome.
      The genetic doctor contacted me today and guess what? The result for both my baby and I came back negative. No microdeletion syndrome !!!!
      I am super thankful to the creator of this baby ❤️
      What a waste of money (I had to pay out of pocket) for the NIPT test and what a misleading marketing about it in regards to its accuracy (my ex ob said that the accuracy of the testing was also for microdeletion syndrome). This journey created unnecessary worries. If only I didn’t go through it , I would have enjoyed my pregnancy and earlier months of postpartum more.

  • Lmp   

    Here’s our story that might give some hope...

    We were told by our doctor that if we could afford the harmony test we should get it. That it tests for Down syndrome and a couple of other syndromes and would also tell us the sex of the baby if we wanted to find out.

    We agreed to getting the test done, then a week after the doctor called to come in as soon as possible for the results. High risk T13, the doctor said the test is accurate and that the hospital would contact us within 24 hours to discuss further testing and next steps but to be prepared that we hadn’t heard of the disorder because babies with T13 don’t survive.

    It was an agonising wait and we were calling the hospital every day for 4 days to get someone to see us. Finally I spoke to a genetic counsellor who was amazing, organised an appointment for 2 weeks later (referral hadn’t come through) and suggested getting another scan to give us more information and help the 2 week wait go by.

    Our scan was ‘perfect’ no markers for T13. The babies head, nasal bones, neck all looked normal and she was very active which apparently is unusual for babies with genetic disorders. The lady doing the ultrasound still said the harmony test trumps what she can see but this was a glimmer of hope.

    When I went back to the doctor for a rash, vomiting and headaches she told us that the scan wasn’t reliable because we were only 11 weeks (at the time of scan) into the pregnancy so to prepare ourselves for the CVS.

    When the time came for the hospital scan and CVS I was gowned ready to go and after another really positive scan they didn’t want to risk the chance of miscarriage with CVS so asked for me to come back 3 weeks later to have an amniocentesis which would carry less risk further along in the pregnancy.

    There was a professor, a doctor and 2 midwives in the room, and I asked about the reliability of the test and the stats that are advertised. They said that the test is still relatively new and not enough is known about it, but from there experience, from women in my position (high risk result but scan with no markers) less than 50% of the babies actually have a genetic disorder.

    The following weeks were filled with a bleed, more scans, jaw lock from stress, but we still had hope.

    On Tuesday I had my second appointment at the hospital with another scan and the amniocentesis. The team of doctors and nurses were positive. They called 2 days later with the results and said the baby does not have T13 or Down syndrome or Edwards syndrome.

    To say we are relieved in an understatement. As my doctor has found out more information she has been shocked.

    I don’t feel like we were provided adequate information and should have been offered counselling before getting the harmony test done.

    It was only through the genetic counsellor and hospital that we heard that the harmony test was a ‘screening test’ not a ‘diagnosis’.

    My doctor never spoke in such terms, and assured us of the 99% accuracy.

    Before having contact with the genetic counsellor my husband and I were considering terminating rather than risk carrying and not having a viable pregnancy.

    I’m now 17/18 weeks and I’ve spent half the time I’ve known about being pregnant being very unwell with stress and real impacts to my mental health which is something that I haven’t previously suffered with.

    I know my doctor was doing the best with the information she had, but more training and information needs to be made available for doctors offering this test, by the looks of everyone’s stories across the board, but from my experience definitely in Australia.

    • Brenda   

      LMP after reading your story it has given me more hope, I had my Harmony test done at 10/5 weeks and they took 6 days to come back and said they couldn't do the test, I went for a second test at week 12 and now the results are showing I'm in the high risk and my baby could have T18, first my GP said baby was coming with Down Syndrome and no much explanation, and they couldn't even say the sex of the baby.
      She just referred me to the Hospital like it was an emergency, I am still waiting to speak with a counselor and what will be the next step.

      I have done 2 ultrasounds before my 12 weeks and last one everything was normal with the baby heart rte and size, me and my husband are praying everyday that this test is wrong and our baby is healthy.

    • Katy   

      Thanks so much for sharing your story this really gives me hope! I’m 13 weeks and just received news my test came back with high probability for 13 & 18 but they don’t think there was enough DNA so I just repeated the test. All of my ultrasounds and other bloodwork has been perfect. The baby’s heart, brain, spin and everything else are the proper size so I hope mine is also not accurate. How are you doing now and have you had your baby??

    • Marilyn Antonaras   

      Thank you for this story im in Australia as well and that is what my doc said to me its 99% acc but both my NIPT test didn't have enough nuclear female cells so I did the nucal scan and blood test and that's were my Triosmy 18 came up but it came up due to the 2 failed NIPT test this gives me hopes im having a amnio done on the 24th im so scared and worried but tour story gives me hope thank you

    • Emma   

      Thank you so much for this story it’s giving me hope right now I’ve just been told I have an 82% chance of our girl having trisomy 13 but reading online it’s starting to appear there are a lot of “false positives” thank you for sharing and all the best with bubs xx

  • Keleefitness_2020   

    Different test providers have slightly different ways of reporting the results. Ask exactly what you will be told. The result should always make it clear that no NIPT result means it is absolutely certain that your baby has or doesn't have a condition. You should be given a copy of the laboratory report and someone should be able to talk you through the report and answer any questions you have. In a small number of cases they will not be able to get a result. You might want to check what percentage of women who have the NIPT test you are considering fall into this category. Also make sure that they will give you a second test or 'redraw' if they cannot get a result first time. If this second test comes back with an inconclusive result, it is important to seek expert advice, so check with the clinic how this will be arranged. If your NIPT says that there is a high chance your baby has Down's syndrome or one of the other trisomies, check that the clinic you are considering has a pathway in place if this happens. Some clinics may offer invasive diagnostic testing, but most will have to signpost you back to the NHS for this. Ask what links they have with NHS hospitals and how they can help you access NHS services. It is important that they have established these contacts and don't just insist their responsibility ends once they have given you your NIPT result.

  • Emma   

    Hi. Combined screening gave me 1:2 for Downs and 1:17 for Patau. I have read so much about screening tests. I am anxiously awaiting NIPT results but I fear they will be high chance. But reading the false positives I’m more worried.

  • Delphine   

    Hi! I just got an amnio yesterday and they told me results should be up by Thursday. I had the NIPT (harmony) twice last month and both times they came out "inconclusive". According to the genetist that I met yesterday, this is a result they encounter in pregnancies with trisomny 21, but this is the first time I hear about it. I had talked to my doctor and she had just said it happens. I am already 24 weeks because they took all the time in the world to get me tested and delayed. Now, in the case of a positive result for down syndrome, I might not even be able to find a doctor willing to terminate the pregnancy because of moral issues.
    I feel all this NIPT hoist is just getting in the way of things. They can only show statistics, I can't even give you that some times. I feel is useless and just time consuming and nerve wrecking.

    • Maria   

      Hi, I am 14 weeks and just for 2x inconclusive results. I would love to head how your pregnancy went if you don't mind me asking? As I had a friend who also had 2x inconclusive results and baby is completely fine. Never heard that 2x inconclusive is a sign of Trisomy 21.

      Thank you,

      Mariana

    • Mel   

      I'm 14 wks 5 d pregnant with first baby, age 37, as a single mother by choice using donor sperm. Just got a call reporting my second inconclusive harmony test due to low fetal DNA. Totally freaking out. Have convinced myself that there's a problem with the baby, and so worried. Last scs nwas low risk, but that was only at 10wks 4 days, early. Next scan not until 16 weeks 4 days. How on earth am I going. To manafe my mind while I wait?

  • Ryan   

    So my fiance had the genetics test at 12 weeks i think and it came back 94% Trisomy 21. So it was overwhelmingly heartbreaking of course.

    she's is 37 weeks and 1 day today and all 4 ultrasounds have showed a perfectly normal baby. No extra fluid in the back of the neck, she has a prominent nasal bone and humerus and femur measure perfect everytime. The only marker on the ultrasound as the little calcium deposits on the heart which i was told are more common in normal babies rather than Downs. All they told me was that it could be a marker for downs, but after extensive research they are more common in normal babies (4 close friends babies had these and were perfectly normal). The only other things now is that her humerus and Femur measure at the 60th percentile for her gestation age but they aren't growing as fast as her head, not a large degree but slightly. This was something that didn't make much sense to me and they didn't really explain it any further. I know big heads run in my family and they told my mom the same thing when she was pregnant with my brother and I.

    My fiance is 18 and its our first child but it seems like everytime we get downs out of our head and stop worrying, something pops right back up to remind us that its still a possibility. We met with a specialist and she said that Ava (my daughter) looks perfect, nothing screamed downs.

    I'm just kind of curious if this has happened to anyone else? should i be leaning towards a false positive because the ultrasounds came back perfect everytime? Is the prominent nasal bone and normal femur and humerus measurements more accurate than the NIPT?

    a speedy response would be awesome as she has already dilated and my daughter should be making her arrival in the next 3 days.

    Either way, the best thing is that shes been healthy everytime we've checked in on her. no matter what she is my daughter and I'll love her the same, I'm just trying to be as prepared as possible.

    • Paul   

      Crossing our fingers that your daughter will arrive healthy, Ryan!

      We are in the same situation except we are in week 12 and have just got NIPT results (positive for Trisomy 21) and ultrasound (prominent nose, no signs of Downs whatsoever).

      We would also really appreciate an answer to Ryans question.

    • Sarah   

      I have had the same NIPT results. High Risk for T21. NIPT are only considered a screening. I am 34 weeks and every ultrasound has been absolutely perfect with zero signs of T21. I have accepted that our daughter could be born with T21 and I have learned so much with research. Regardless of a diagnosis WE will be her voice. I would love to talk to others who have had similar situations and I would love to know the outcome.

    • Brianna Means   

      Hello. I’m not quite sure exactly when this post was made. I hope everything ended up fine for you guys?! My husband and I had the NIPT test and tested high risk for downs. 1:29. I feel we are in the same situation as you. We’ve had an ultra sound after the results and doctor said he has no reason to believe our baby has downs. Not one marker. We had an ultra sound 2 weeks ago and another doctor said arms and legs appeared smaller than age which could be a “soft” marker or it could be that our family history has short people. I feel we’re in the same boat, every time we feel things are going good we go to these ultra sound appt and they shoot us with something else. I wish I never took the NIPT test and let things be. I’m 27 weeks and am trying to remain positive. I would never terminate because I could never forgive myself. I will love my son no matter what. But of course I would want a healthy baby. Please let me know how everything went. Best of luck.

    • Aparna   

      how is the baby? I am in a similar situation and need hope

    • Bridgette   

      In the same boat. I am 19 weeks. We did the NIPT this week. The scan also only picks up the calcium spot on the heart as a marker but my bloods were not favourable at 12 weeks. So now we have the agonizing 2 week wait to get the NIPT back.

      This has been such a stressful ordeal 😩

    • Simone   

      Hi All
      Just wondering if anyone would be able to share that most importantly their beautiful baby arrived safely but also the outcome of the stress you went through? Were the tests accurate?
      Wishing everyone well

  • Guru   

    Hi for my wife we recently undergone double marker test. The screening result is negative. But HCG level is little high. Our doctor suggest me to go for NIPT Even though double marker result is negative for confirmation. Could anyone tell me this NIPT is necessary.

    • Jessica   

      Last year when we found out I was pregnant, I had a gut feeling from the start that something was wrong with this pregnancy. We had the NIPT done and it was high positive for Trisomy 13. Because there is a chance of placental mosaisicm, we opted for Amnio. The Amnio confirmed Trisomy 13, which correlated with features found in the ultrasound. Although I understand some people have had negative experiences with NIPT I am very glad I did it, as well as the Amnio as it prepared us for the loss of our baby girl. I can’t imagine what that would have been like if we had no idea what was to come.

      Now I’m 11 weeks pregnant again and just had NIPT done. Fingers and toes are crossed!

  • Megha   

    I know there are many false positive results of NIPT but are there any false negative?

    Where you were screened as low risk but it was not true

    • Ruby   

      I read a case where the ultrasound showed some indications but the harmony test said low- baby was born with trisomy 18.
      So they say the NPV negative predictive value is more accurate but still not fool proof

    • Jen   

      This is EXACTLY where I am at right now! I received a "low-risk" result for NIPT at 11 weeks but my 20 week ultrasounds are concerning. One of the biggest things my doctor told me: All these tests are SCREENINGS, not diagnostic tests. I'm working on getting an amnio scheduled for this week (will make me 21 weeks). An amnio is more accurate than anything else. It will start with the big ones 18,21, 13, and go beyond that. My Boston Dr said an Amnio testing for downs is 100% accurate. Other genetic abnormalities may have a lower percentage rate.

    • Katy   

      I had high risk combined screening for downs 1:47 due to high hcg level and my NIPT (harmony) extracted 11% fetal dna and found me low risk <1:10,000 for downs.
      My scans have been fine no soft markers - nasal bone present and heart bowels etc all fine.
      However my 23 week growth scan showed femur length in 19th percentile but head and everything else is 80th!
      This is a marker for downs but can be totally normal. The doctor is not concerned at all.
      Whereas I’m now thinking I want an amnio? It’s all too late

    • Bridgette   

      The challenge we have with Amnio in South Africa is that it costs the earth ! And medical aid will not cover the costs for any of it unless the NIPT comes back as positive. So if you get a false negative on the NIPT and opt not to have the amnio due to the cost then you will completely miss out on the opportunity for a proper diagnosis. What an ordeal 😩

  • Kate Conner   

    I received my NIPT results over the phone by my family doctor who said my results were great and I have nothing to worry about. 2 weeks later I received a phone call from a different doctor who asked me to come in and discuss my results. For Trisomy 18 my results came back as 1 in 432 and Trisomy 13 came back as 1 in 153 - I just missed the cutoff. Is there a chance my baby can have Trisomy 18 or 13?

  • Teresa   

    Hi all, just wanted to write to try and ease everyone’s worries about their test results. Here is my story , making it short of course. I’m going all the way back to 2004. When I was pregnant and I took this test. The results came back positive for trisomy 18, a fatal syndrome, I don’t remember the exact percentage but it was in the 80%’s. So it was pretty high. As you can imagine I was devastated. Yet I declined any invasive tests and only went for some level II ultrasounds, which kept coming back normal. Yet my doctor kept saying the percentage was very high and to be prepared. At 32 weeks my water broke. I went to the hospital and ended up having a c-section 3 days later. My baby was born at 32 weeks. And he was born a healthy baby. He is now a stubborn, fortnite addicted 😒, yet very smart, 15 year old. Please do not loose faith. Faith is everything!

    • Jen   

      What country are you in as the NIPT test was not released until 2011?

  • S   

    My NIPT test has come back as 'high probability' for three copies of trisomy 20. Have there been cases where this has come as false positive?

  • Lisa   

    Hi I aborted a baby at 18 weeks in 2014 because the hospital spent so much time messing about as first they delayed cvv then it was to early and not fused (placenta) that I got to 17 weeks pretty quick when they in desperation suggested I go private for NIPT . I Did results were positive for downs . I was 32 had a 11 year old and 5 year old (healthy) . Going through the same now . 5 years later and I can't help wondering if the same happened to me? The heart was fine bones ect ... Not sure about nasal . It does worry me as they attach all current findings scan image My ect to blood sample . Surely this isn't needed if the test is so good? I am now 12 weeks and the hospital seem to have already put me down as a lost cause . They said they have never come across a lady too have two DS pregnancies. I am awaiting Nipt results . But this time WILL FOR SURE. Have a diagnostic test hopefully Cvv.

    • Grace   

      Lisa what was your outcome

  • Madison T   

    Thank you so much for this. I just got a test back saying the baby had markers for Turner syndrome. And I was completely a wreck. I've spent the last day balling my eyes. Until finding all of these articles about how uncommon this really is. So many articles on the NIPT inaccuracy specifically for sex chromosome disorders. Giving me the strength to think positive. My doctor says there's a 33% chance that it's true, 67% it's not. Praying it was another false positive .

    But as you mentioned, if it is, it stinks that they told me gender, we were planning something special to find out, and instead we got this hurricane way... Really all a heartbreaking experience. Praying for all moms who have to go through this anxiety .

    • Tommy   

      Read your story and was wondering how every thing went !

    • Tera R   

      Madison,

      My 25 yo daughter is going through the exact scenario you just described! Had a lackluster gender reveal on Thanksgiving and she is having another ultrasound 12/6 with possible amniocentesis. This article has helped calm me a great deal. Prayers for your daughter's health!

    • Maddie   

      Madison I am going through the exact scenario right now and my anxiety is through the roof. I’m 12 weeks at 37 and drs say to get an amnio to be certain but I don’t want to. How did everything turn out for you and your baby.

    • Jordan1807   

      Last year I was pregnant with my first pregnancy and I went in for my NT scan at around 12 weeks and it came back abnormal at 4.6 I believe. The perinatologist told me the US revealed signs of tuners syndrome. He then offered me the NIPT and that told us it was coming for accurate with Turners. He then did another US and the baby started collecting fluid in her abdomen and other organs. He then offered a CVS and those results came back with a diagnosis with Turners. We were told due to all the findings in the US the baby would eventually pass or I could have a stillborn. We were already devastated from week 12, we opted for have an abortion and the doctor who took care of me told me we had made the right decision and that my baby was really sick. It’s a tough situation to be in, but if you want definitive answers have a CVS or amnio to make sure. If the results won’t change the outcome of your baby, then don’t do the testing.

    • Kim   

      Hi Madison T! Praying for you and your baby. Can you please update us on how things are going?

    • Heather   

      I also am going through the exact same thing. Im 15 weeks and 4 days. Been told our little girl has 33 % and 41% of having Turner syndrome. I have been heartbroken ever since. Trying to stay positive and pray for the best. Anxiety of losing your child is so real and hard to overcome. Reading this givea me hope. But I pray your little one is well. As a mother I completely understand the heartbreak and Anxiety. I pray for all going through this.

    • Caroline   

      This just happened to me. Getting amnio next week. How did things turn out for you?

  • Jake   

    Not only should it be more clear about the false positives but also about the false negatives. We are part of that o.o1% who was given a negative but went on to have a little girl with DS. It should be made clearer.

    And for the record she is perfect, wouldn't change her for the world and she had taught us more in her 3 little years than we could ever imagine. She is happy, beautiful and our world.

    • Don   

      We are going through the same thing. All tests were negative. NIPT & ultrasound were negative/no risk and just had a baby with indications for Down’s. Very hard to process when all tests indicated no risk for your baby. Zero resources online discussing these findings.

    • Claire   

      Hi Jake (and Don), I had the exact same experience. I had a false negative with Natera. I first had a 'no result' and then the false negative. I would love to talk with you about your experience as I am still trying to understand what happened. I believe these false negatives are far more common than companies let on. There is a lack of transparency about the data and studies they refer to. We also have a beautiful daughter with down syndrome- before her I lacked the imagination to know how beautiful life could be.
      If you - or anyone else with a false negative - could write to me I would appreciate it: niptfalsenegative@gmail.com

    • Gustavo   

      Hi Jake. Happy to hear that about your daughter and that you let us know it.

      People receiving T21 high risk results from NIPT should first understand and be properly informed on what down syndrome is. Me and my wife are in that group (week 16) and we we'll receive and truly enjoy that little girl that might or might not have T21 as we don't want to go through amniocentesis or whatever.
      Good vibes to everyone!

  • Claire   

    What was your result ? Was the NiPt test results correct ie did the amnio confirm what you already know ??

  • Claire   

    Hi wouldn't get an amnio based on those results. You're at risk of putting a healthy baby through a miscarriage

  • Claire   

    it normally means out of 20 babies 1 baby will have whatever you've been tested for

  • Claire   

    What you have to remember are that the NIPT is a screening test not ???? accurate. I had my NHS test and it came back high for downs pateau and Edwards. I've just had the NIPT and it's come back as clear for Down syndrome and pateau syndrome but a HIGH result for Edwards. The NiPT results combined with the NHS results I believe mine to be accurate

  • Clementine   

    I would like to know this one too! I live in The netherlands and we had a positive on a duplication on Chromosome 2. We did a amniocentesis and are awaiting results. Hopefully the result will come in in the next week....

    How accurate would the NIPT be on these findings?

    • Karen Welkenhuysen   

      Can I ask what the result was? I had a positive for duplication of chromosome 4.

  • Jm   

    What does it mean to high risk (1/20) in case of NIPT.?

    • Yohanna   

      I got a high chance NIPT result with 0.74 % or 1in 137 for down syndrome. The consultant told me it is a very rare result . Usually comes as high chance with 95% or more positive or low chance . To confirm I got amino yesterday and waiting for results. Anyone had this kind of result?

  • Lhd   

    I'd like to know too. Got a 'low risk' NIPT last wk, so I'd like to rest on my laurels and not get amnio.

    • Ah   

      I am in the same situation. The combined screening test showed a high risk. I just received a call regarding my NIPT which is low probability. But I am wondering if I should still get Amino or CVS.
      What did you decide at the end?

  • Ashleigh   

    What is the accuracy of NIPT for more rare syndromes such as partial chromosome deletions?

    • Ash   

      I've been trying to find the same thing. If you have any experience, do let me know. Our 12 week scan was fine but NIPT came back as "positive" for monosomy/partial monosomy 18. In the notes it said, results consistent with partial monosomy 18q. I found two other women that had the same result - One had a baby with the syndrome and another was told that it was so rare that she shouldn't consider diagnostic testing so long as the scans continue to look fine. I'm booked in for amnio but have found the whole thing horrendous. As far as I knew, I was only being tested for the 3 trisomies!!

  • Grace R   

    Hi, I just got my results from the NIPT test, I'm 23 years old, I was 10 weeks pregnant at the time of the test. The test said “Positive” for Down Syndrome, with a 53.3% PPV. I have a sister who has DS so I wonder if that increases my chances of this “positive,” being accurate. Can you help me make sense of this? Does it seem likely this result is accurate?

  • Hilary H   

    Alterntively speak to Antenatal Results and Choices (https://www.arc-uk.org/)

  • G   

    Hi. Interesting to learn about the false positive results.

    Is it possible to get a false negative result?

  • Jv   

    I thought the amino test was diagnostic.... so that superceeds the NIPT. Sounds like you had a false positive?

  • Jitendra Mahour   

    It is really very informative for peoples like us, My wife was reported NIPT highly positive(1/20), then we go for amniocentesis that comes negative for down syndrome. I want to know that if amniocentesis is negative, than I have to be worry about NIPT or not.

    • Hb   

      No you should not. Amnio is confirm diagnostic.

  • İbr   

    Hello last week we had positive trisomiy 21. But we dont have any symptomps without a litte bit stomach bigger (18mm). Not double bouble. My wife is 30 years old (newly) and pregnancy is 24 weeks. And also this nipt test show that foetal fraction is only %6 is it enough? Yesterday we did FISH amniosyenthesz

  • Ji   

    Hi, I was just searching the result regarding my first combined test in Scotland. I could not find any result about Edwards' syndrome (Trisomy 18) and Patau's syndrome (Trisomy 13) on my report paper but only Down's syndrome. Are you sure that in Scotland all pregnant women are offered those three primary test during first trimester?

  • Stacey   

    We had a positive test for trisomy 13 with the NIPT test showing 99.9% accurate when I was 18 weeks pregnant in November 2018 and the consultant on that day offered nothing but abortion because the test is 'so accurate' was his words, we booked the abortion and went home with broken hearts, cried for hours , I later contacted the hospital and requested an amniocentesis to make sure before I done the worst thing in the world and abort my baby, I had to have ? not 99.9%, after 2 weeks of hell waiting for our results they came back AND THEY WERE CLEAR! Our son is now 4 months and perfect! That doctor nearly took his life and god knows how many healthy babies due to the NIPT test results only, lucky I had the knowledge and guts to wait a little longer for second opinion or he not be here now!
    NIPT should always be made to have follow test with amniocentesis for full results ? of the babies DNA not 10%. False positive's can happen due human error but what's not Right and Certainly not Acceptable is the poor advice after the NIPT test like we had, it's is not good enough in NHS in this day and age. I feel sick to the stomach how many babies not made it due to NIPT Test.

  • Mia   

    We hoped our NIPT was false positive.
    But turned out to be true for Down syndrome.
    Also, early 12 weeks scan could show some signs of Down (like a heart problem, nuchal translucency), so you could skip NIPT and get cvs or amnio.

    • Sue   

      I would agree with you here if you are high risk (like advanced maternal age). This is what I would do if in the same position again.

  • Suma   

    Same question we went to NIPT test and reports came as baby girl is the gender report is right or wrong

  • Rajesh   

    Recently we had taken NIPT blood test and based on result Dr confirmed that we have blessed with two girls. when we google there are more discussions that NIPT gender goes wrong, hence, though of getting some info whether we can believe on the NIPT blood test on gender or not?

    • Ginloy   

      Did you have 2 girls ?

  • Glenda Parkman   

    This article, I believe, contributes to the confusion many women are experiencing regarding these 'noninvasive' tests. First, they have some doctors treating these tests like they are diagnostic and recommending abortions based on the results. Then, we have articles like this; which, before getting to more clearly worded pro and cons, spends 4 paragraphs containing sentences such as, "NIPT has been shown in multiple studies to be very good at identifying the most common chromosomal conditions - Down's syndrome, Edwards' syndrome, and Patau syndrome - particularly in women who have a higher chance of having a fetus with one of these conditions." I ran a business for 15 years, during which time I learned that people are receiving more written information than ever before but are fully and carefully reading less of it than ever before. Even sadder than the fact that people have, no doubt, aborted perfectly healthy babies based on their misunderstanding of the true accuracy level of this test, is the fact that so many people will jump at any new test which purports to 'protect' them from having an, in their estimation, 'less than perfect child.' I have a daughter with a Trisomy 13q/15q translocation. She has been one of my life's greatest teachers and one of my greatest joys! She is 32-years-old.

    • Sc   

      Hi Glenda, may I ask what the impact of 13q is? My NIPT recently came back with potential duplication of 13q. Thank you.

  • Ruksana Ibrahim   

    Hi brilliant article, I have read similar concerns everywhere about NIPT.
    Could you recommend best private clinics to have NIPT testing??
    It's still better than combined nhs test &amp; not invasive as amnio &amp; cvs..
    I won't be alarmed if my results are elevated because of everything I have been reading but it's experience &amp; way forward if there is some accuracy sometimes..

  • Catherine Joynson   

    I'm afraid we're not the right people to give you medical advice. Your doctor or midwife should be able to offer you some information.

  • Jessie Lee   

    Thanks for your advices. The NIPT result said 99% positive, I do worry... Could you please advise me what test I should take next?

    • Lifelabs   

      Jessie, It would be great to seek advise from a health advisor in meeting and move further according to their advise. Please do not seek advise for such complicated matters here on internet, it could result badly.

  • Catherine Joynson   

    NIPT offers a good prediction of whether a fetus has Down's syndrome – better than the 'combined test' alone, which is currently offered to women in the NHS. But it is important to be clear that NIPT is not a diagnostic test for Down's syndrome. There is still the chance of a false positive result.

  • Jessie Lee   

    So, finally we should not believe NIPT result for Down Syndrome predictions?

  • Catherine Joynson   

    Thank you for raising this point - you're quite right. We'll try to get this across if the opportunity arises in future.

  • Susan Mitchell   

    I do wish that someone would explain properly to women why seemingly accurate tests can produce so many false positives.

    It is, of course, because we not only need to consider accuracy but prevalence.

    It is possible to have two tests for different diseases that have exactly the same accuracy (sensitivity/specificity), but the test for the rarer disease will produce many more false positives. So, for instance, the rarer Turner's Syndrome could be tested for using NIPT but would either produce too many false positives to be useful of it would need to have much higher accuracy than the NIPT for the more frequent Down's syndrome.

    Equally, the rarer the disease in a particular age group, the greater the proportion of false positives. So although the accuracy of NIPD may be the same across different age groups of mothers, the number of false positives will be greater in younger women.

    I very much wish that you had been clearer about this with the BBC, both in the interview with the Today Programme and any input you may have had in their recent article about NIPT and Turner's Syndrome.

  • Catherine Joynson   

    Thanks for the positive feedback Alison

  • Alison Millman   

    This is a really helpful article for those of us involved in counselling women for these tests. I have shared it with my screening and fetal medicine colleagues and we will take particular note of the PPV for high chance results - this mirrors our experience especially for Edward's and Patau's syndromes where we are always mindful about scan findings alongside these results as an apparently normal scan with a high chance NIPT result for trisomy 13,18 raises the suspicion that the result is not correct and/or may be a result of placental mosaicism

    • Amanda LaVigne   

      Hello. I would like to post what I just recently posted in reply to your comment. Could you shed any light on this for me? I will not be able to get into any type of maternal fetal medicine diagnostics center for a few weeks and I am already 18 weeks, just yesterday testing high risk for Trisomy 18.

      I miscarried at 8 weeks pregnant. I then found out I was 14 weeks pregnant, 6 weeks after the miscarriage. I am assuming a miscarried a twin. I recently texted high risk for Trisomy 18. Is there a possibility that the twin I miscarried could have passed from Trisomy 18 and the DNA is still lingering in my blood?

      My baby has shown to be very healthy in each ultrasound, with all measurements being right in track. Very active and very strong heart beat.

      Thank You!

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