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!
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?
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.
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 .
Read your story and was wondering how every thing went !
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!
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.
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.
What was your result ? Was the NiPt test results correct ie did the amnio confirm what you already know ??
Hi wouldn't get an amnio based on those results. You're at risk of putting a healthy baby through a miscarriage
it normally means out of 20 babies 1 baby will have whatever you've been tested for
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
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?
What does it mean to high risk (1/20) in case of NIPT.?
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.
What is the accuracy of NIPT for more rare syndromes such as partial chromosome deletions?
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?
Alterntively speak to Antenatal Results and Choices (https://www.arc-uk.org/)
Hi. Interesting to learn about the false positive results.
Is it possible to get a false negative result?
I thought the amino test was diagnostic.... so that superceeds the NIPT. Sounds like you had a false positive?
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.
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
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?
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.
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.
Same question we went to NIPT test and reports came as baby girl is the gender report is right or wrong
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?
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.
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 & not invasive as amnio & cvs..
I won't be alarmed if my results are elevated because of everything I have been reading but it's experience & way forward if there is some accuracy sometimes..
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.
Thanks for your advices. The NIPT result said 99% positive, I do worry... Could you please advise me what test I should take next?
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.
So, finally we should not believe NIPT result for Down Syndrome predictions?
Thank you for raising this point - you're quite right. We'll try to get this across if the opportunity arises in future.
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.
Thanks for the positive feedback Alison
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