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 (60)

  • 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

  • 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?

  • 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

  • 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?

  • 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.

  • 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!

  • 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...

  • 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 😩

  • 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.

  • 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?

  • 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?

  • 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.

  • 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!

  • 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?

  • 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??

  • 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.

  • 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.

  • 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   

    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?

  • 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.

  • 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.

  • 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?

  • 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.

  • 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

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