False negative NIPT - be warned!

[101HK]

This is really just a vent and warning to others that although the NIPT blood test is sold as 99% accurate I gave birth to a little boy with Down syndrome (who’s absolutely perfect and otherwise healthy), after having high risk combined screening and then a low risk NIPT which I was offered on NHS. I was told it’s so accurate it’s virtually diagnostic so not to worry, and have since spoken to other mums of children with Down syndrome who had the same thing happen. When I questioned the dr they said I must just be the 1 in 10,000 however as I’ve met others I do genuinely question the validity of that and the accuracy rate to be honest…I would definitely recommend to any mums, especially older ones as I’m 39, to have a CVS or Amnio if you really do want to know for sure. Like I said, my son is so beautiful and we’ve come to terms with things but I am angry at the advice I was given so want to make sure others are aware!

@101HK Thanks for bringing this up, my genetics counsellor told me that given my high screening risk (1 in 3), a negative NIPT would only lower the risk to 1 in 300 or so. This doesn’t seem to be something that I’ve read about on these forums (and I feel like I’ve read everything at this point).

@ONCanMum that’s really interesting, I’d not heard that from any of the drs or fetal medicine nurses. My risk was 1 in 8 but their advice was still to go by the NIPT. I think there’s definitely a lack of knowledge within the medical community about the test to be honest!

I have a friend who had a baby with DS, despite the negative NIPT. I agree - it’s not quite as clear cut as we’re led to believe.
Congratulations on your beautiful boy, OP.

We also had a NIPT test and were told our daughter was fine at 12 weeks. At 20 weeks she sadly had five soft markers and were told we should do an amnio. I questioned this and said we had been advised to do the NIPT at 11 weeks by her colleague, her response “the NIPTs are a false security and should not be relied upon and they also only test for three disorders”. Sadly, we had a TFMR following the amnio results. We should have had the CVS at 12 weeks and saved our daughter, us and our families a lot of additional heartache. There is so much false marketing for the NIPT it needs to be properly looked in to.
Thank you for raising this.

Sorry to hear that @Dueinjan23 it really would prevent a lot of unnecessary pain for a lot of families if people were more aware. Even the healthcare professionals themselves.

@101HK Congratulations on your beautiful baby. I can only imagine the rollercoaster you’ve faced. I just wanted to say I share some of this frustration around how NIPT is promoted. I have received backlash over this and accused of scaremongering, but it does worry me that so many have been told the test is basically diagnostic. When I’ve raised such concerns on here, sadly there has been backlash. Just be aware you are not alone in speaking out about the limitations.

It was very clear when I had my NIPT that is was not diagnostic. It's a screening test and if something is 99% accurate then someone is always going to be the 1%.

Every website I've ever seen refer to the test, the NHS including clearly state that it's a screening test and not diagnostic. I had NIPT and I wasn't told everything was okay or fine, I was told my risk factor like any other screening test.

@CornishGem1975 i was also aware it wasn’t diagnostic however as I said in my original post, I was told by ALL medical professionals at the time that it was ‘as good as’ and no need for CVS and to go away and enjoy pregnancy. I wasn’t told a specific risk factor. I think this happens a lot, and my advice really to anyone else is if they get a high risk combined screening they really need to have more intrusive testing and not be advised like I was that the NIPT result would be accurate enough to go by.

@SarahD19 thank you. I think there needs to be far more education within the healthcare system on how this is promoted and the advice they give to expectant parents. People may see my post as scaremongering depending on how they view it but hopefully it’s good advice for a few people!

@CornishGem1975 I know technically the website etc says NIPT is a screening tool, but the fact is I also experienced multiple healthcare professionals suggest it was basically equivalent. I was even advised by a midwife (after having both CVS and amniocentesis!) that I should also consider NIPT at that point as it is so accurate. Whenever I have stated on here that NIPT is anything other than bulletproof, I’ve been shot down and accused of scaremongering. The fact is, how the test is promoted and discussed within healthcare and on these forums, people are misled by how much the test can tell them - and the level of accuracy.

• equivalent to diagnostic.

What does the test show?

Thank you so much for posting this in here and sharing your experience for others to read! There is definitely an inaccuracy in the NIPT and it Is something no one in the NHS seems to mention!! Whilst saying to you it’s 99.9% accurate, when it is not. Please do your research as much as you can and get Second opinions.
I will try and make my story as short as possible I’m 39, and pregnant this is my first pregnancy, currently at 14 weeks.
I had my 12 weeks scan all fine measurements on the neck were fine also.
NHS screening results come back high risk for DS. The midwife started saying “so have you thought about termination at this point” which I thought was totally uncalled for at this point and didn’t need to be said!
I had my bloods taken for NIPT 3 and days later the same midwife called me (yesterday) and said I’m really sorry your NIPT results have came back high for DS.
I am now booked in for an Amnio diagnostic test in 2 weeks as you need to be 16 plus weeks to get this.
I am devastated, upset, lost and numb Just can’t put it all into words how my world has been turned upside down.

But I have found some small hope in a website I have found where women in my position have had both high on screening and high On NIPT and the Amnio came back perfectly normal and fine they have went on to have babies with no abnormalities which they was told initially.

Please anyone who is told high or even low risk from the NIPT consider getting the Amnio as this is 100% accurate where the other two tests are screening tests and not 100% accurate!
I have shared the below link for anyone wanting to read it if you are in the same boat don’t give up hope until you know for sure.

https://www.nuffieldbioethics.org/blog/nipt-private

Sorry to hear this OP. Your post really highlights this issue and helps spread the word. Out of interest were there any signs on 20 week scan?

Don’t be sorry, my son is the best thing to happen to me and is no trouble at all, but the situation was a shock and one I wish I’d known beforehand. There were no markers at my 20 week scan, all was perfect. The only thing that flagged much later in the pregnancy was that his femur length was under the 5th centile which can be a marker but again I was assured it was very unlikely to be DS due to the NIPT result. At 20 weeks though this wasn’t the case and nothing was out of the ordinary.

Hello, which test provider did you use? Also do you know what your fetal fraction was? I am concerned about this also and trying to decide whether to have an amnio to follow up on nipt done at 10 weeks

Thank you for sharing - this has really made me think twice about my own decision.

Regarding your experience of noticing other parents who had the same thing as you - I guess most people would choose to terminate if they had known beforehand (I may be totally wrong here) so maybe there are more parents with down’s syndrome children who have had the same experience as you where they were unaware they were having a baby with DS.

I’m really struggling to make the decision on whether I should do the amniocentesis or just do the NIPT (my risk from
combined screening is only 1 in 102 and all looked good on scan - I think my risk came up higher cos my hcg level was so high - 8x the average) but also scared of miscarriage risk but now scared of getting a false negative with NIPT. Can I ask did your scan show nasal bone at 12 weeks? And do you know what it was on the combined screening that put you as higher risk? Thanks again so much for sharing as it really does make it very real..

@Hrodge sorry to hear you’re going through this. I feel compelled to make you aware that the statistics shared around invasive testing and miscarriage risk have been widely debunked by research for a decade or so now - and it is widely accepted clinicians should be sharing more up to date, evidence informed data. If the alleged “miscarriage risk” is the primary factor putting you off amniocentesis, be aware the data you’ve been given is inaccurate. I give an example of some of the journals around this https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449654/#:~:text=The%20authors%20point%20out%20that,overestimate%20the%20procedure%2Drelated%20risk.

@Hrodge personally if you really want to know I would have the amnio. We had a nasal bone and no soft markers at 12 weeks or 20 weeks. The thing that made me high risk at combined screening was my high HCG and low papp a, and in your case if it’s very high I would definitely investigate, although don’t stress too much yet, it could equally be nothing! I know that’s easier said than done. You’re right that majority of babies born with DS are born to parents that didn’t know during pregnancy but I will be honest it’s much more common than I was previously aware.

thank you that’s helpful to know, it was the way the obstetrician said to me ‘I’d like to know why you’re choosing a test that carries nearly the same risk of miscarriage as the risk of you having a baby with down’s syndrome’ kind of implying I was being irresponsible and self-indulgent!

Yea super hard to not stress out when hcg is that high but obstetrician did say it could be just how my body works during every pregnancy i may have. Can I ask how high and how low your HCG and PAPP-A were respectively? And what your initial combined risk was from combined screening. I think I will go with amino.. it feels scary to have needle in tummy but I don’t want to regret anything..

@Hrodge it is really disheartening to hear that clinicians keep sharing misinformation - particularly in a context like this where anxieties are already running high. Judgement around those choices holds no place in good clinical practice here - particularly when the research they’ve cited is so outdated and widely debunked by anyone worth heeding. Wishing you the best X

@Hrodge I wouldn’t compare yourself to anyone's specific results, I don’t think that’s helpful. My original post is just to make people aware of the shortcomings of NIPT and how it was inaccurate for me…and others I’ve since spoken to. Personally I would do an invasive test if I were pregnant again as it’s the only way you can ever know for sure.

Do you mind sharing the outcome of your amnio diagnostic test? Did your baby have Downs Syndrome?

@101HK Hi there, I know it's been a while but I just wanted to understand what's going on. Our situation is very similar to yours, although I'm still only 28 weeks now. We had a 1/10 high risk, but we did an early NIPT at 10 weeks with low risk 1/10000 and we were told to ignore the NHS screening result as NIPT was more reliable. 20 week scan we were told all was fine but on our 24th week scan (I was put on growth scan plan due to my forst born on 10th centile when he was born and my age, now 44) this is when we were told our baby's femur is small in comparison to rest of his body. It was femur on 3rd and other measurements between 30-60th. Latest scan at 28 weeks is still showing small femur at 5th and rest slightly higher now at 50-70th. Can you please share when you discovered the short femur and what kind of results you were seeing and when? I'm starting to think we may have been given a false negtive result.