NIPT

[Chanel05]

I'm thinking about getting NIPT at 10 weeks. My NHS scan is booked for 12+5. If I get the NIPT, will I also need to have the blood test at my 12 week scan still? Or will the NIPT tell me what I need to know?

It’s a shame that the point of how taking an NIPT test for ‘reassurance’ can leave one in a very sticky situation, should the odds fall against, has been a bit lost in all the back and forth.

It’s a reasonable POV that being left with bad news at 10 weeks, usually presented as an ‘almost-diagnosis’, and then waiting for all the testing, not knowing whether to hope or not, is perhaps worse than hearing it later as part of a more continuous pathway of care. I had to weigh this option with my current pregnancy, and in the end decided against an early NIPT.

Having read a few of SarahD19’s posts on this issue I can’t doubt her motivations are simply to raise awareness of the pitfalls. It’s a complex issue and not easy to communicate. It seems fruitless to pull apart her posts, re-write and criticise. She’s entitled to her negative view after all, given her experience, for which she’s been shown little sympathy.

Wishing everyone the best with their pregnancies, and sorry for us all who are having to delve into this world of uncertainties and hard decisions.

@fretnot thank you. The science is indeed baffling and complicated, not only to communicate but to understand. I have so much respect for the one senior Fetal Medicine consultant who was brave enough to tell me that even she could not class any prenatal tests as truly diagnostic or assert any certainty - and indeed acknowledged inconsistency in findings is part and parcel. I certainly hold this view myself and honestly think if more people also maintained such a position screening and diagnostics would be a more positive experience. I have read multiple misconceptions and inaccuracies on this board - including much information in these latter posts. However I do not think it is appropriate or right to go beyond saying the science is complicated and become personal.

Unfortunately I think you summed it up well in your previous post, that for some the NIPT can be a point of closure/positivity and I do understand this (even if that closure is you accept a potential diagnosis as a likelihood and choose to continue the pregnancy).

The current NIPT promotion is far from balanced - and evidently not restricted to a few providers. The misinformation is widely circulated across professionals themselves. A midwife who had suggested NIPT to me as “basically diagnostic” for Edwards was speechless when I made her aware that false positives outnumber genuine high risk detection 2:1. And given the prognosis shared in respect for Edwards and Pataus (unlike Downs) is that your baby will likely suffer catastrophically, be stillborn or die pretty much straight after birth, the pressure to terminate is even more tremendous. I know many who have not been able to cope with the diagnostics and have terminated on this basis.

Anyway, on a positive note, I have been able to make small changes and bring the issue to the focus of local politicians, and even motivated a student clinician to do further research/reviews around the issues surrounding NIPT as she has shared my grave concerns from what she has seen within the NHS. I have also been informed my concerns have been explored at ethics committees, so small gains in increasing awareness.

@fretnot also sorry to not add, all the best in your pregnancy! Fingers crossed we - and anyone else who has faced these challenges have positive outcomes with our current pregnancies xx

I'm still waiting on my harmony results (over 2 weeks
now). I'm 20 weeks pregnant. The risk of false positive for the additional syndromes that harmony can test for was made clear to me but my provider definitely gave the impression that a positive result for any of the 3 trisomys was 99% accurate. I went to the spire. I'm grateful to everyone that has contributed to this thread as I now know that a positive result requires an amnio that could potentially reveal no issues.

@itsabitofamess good luck with your test results and any diagnostics that may or may not follow. I’ll be thinking of you!

And absolutely these are the concerns. The midwife I recently spoke to, upon becoming more aware of the NIPT misrepresentation I think summed it up well when she said “really it’s a Downs screening tool that could be advertised as 80% accurate at best”.

She commented how unethical it is in being cited “99% accurate” for the three trisomies. Particularly given even the 80% positive predictive value for Downs is subject to targeting clinical groups already identified as “high risk” for Downs. The practice of people dismissing factors such as serum screening that help identify high risk etc alongside maternal age, in the first instance, I understand from the research (although some is limited) that the Positive Predictive Value (PPV) drops even lower in those clinical subsets - sometimes as low as 50% PPV even for Downs. With the other trisomies, also even lower... Yes a low risk result may be reassuring, but when people (clinicians and patients alike) interpret these statistics as accuracy in positive detection, that is where the harm comes.

Hi,
Looks like you have been talking about the subject for a while in this thread but I just thought I would share my experience here as I want to help future mums that are looking for information.
This is my story : I am 39 years old and after the 12 weeks screening test I was told I was high risk and that I could do further tests if I wanted to. I was not worried as I thought it was due to my age but we waited a few weeks and decided to go for the NIPT as it was non invasive. I got the results when I was 19 weeks pregnant. I received a phone call, that I remember perfectly because I was just landing from a business trip to the US. I was jet lagged and had just spent a very short night in the plane. The lady on the phone asked me if I could talk and when I said I was in the airport she said let me call you back when you are in a more quiet place. I knew immediately something was wrong.
I called her back from the taxi bringing me home and that’s when she gave me the news. My baby had 99% chances of having Edwards syndrome. My mind just went blank, my world collapsed. I couldn’t believe it. She said I should have an amnio to confirm 100% but should start thinking about my options. If we wanted to terminate the pregnancy I should make an appointment quickly because it was already at an advanced stage. I managed to get the amnio done that same afternoon and we had to wait 3 days for the results. The 3 longest days of my life. I couldn’t sleep, I couldn’t stop crying. The feeling inside me was telling me my baby was fine. Actually my baby was telling me he was fine. He never kicked as much as during these days, like he wanted to reassure me. Of course when I was saying that to others they would try to reason me and say don’t get to excited, 99% means the baby has a condition and you should mentally get prepared for the worst.
When I finally received the call from the hospital with the amniocentesis results I fell on the floor crying all the tears of joy that I could... my baby was fine!!! And yes, he is now a 6 weeks old healthy baby and I can say that false positive results can happen. I wanted to write this testimony because I couldn’t find any information about false positive when was in the most desperate times so I hope it can give a little hope to the mums to be... follow your instincts and don’t stop believing until being 100% sure of the diagnostic.

Thank you @Jand33. And this is exactly why I have tried to bring the pitfalls of false positives to people’s attention. If someone has a result like this, there seems to be very little awareness that with NIPT it is not explained that your baby is actually more likely to be HEALTHY than have Edwards. Without exception all the adverts I have seen for NIPT cite statistics as percentages being in the 90s for accuracy, which is unethical and misleading imho.

Yes some NIPT adverts do say results should be “confirmed” by CVS and amniocentesis (the simplicity of this is another bugbear for me as even these tests are limited). However the adverts should clearly cite that there may be a 60-70% false positive rate, rather than alarm by suggesting results should “be confirmed”

Particularly with Edwards and Patau Syndrome. Although my tests were different, I was also cited “99% accuracy” and pressured to lean towards termination in respect to termination as the prognosis is so dire. In fact after 4 months of tests and daily tears, I finally got told my baby is healthy and seems to have a good prognosis (I am 32 weeks pregnant now).

Hi I went for an amniocentesis last week and both the consultant and midwife told me that I could have the NIPT. I said I wanted a definitive answer as I was given a high risk for Edwards and Patau based on my combined screening as my PAPP-A was low. Nothing has been found on my scans and I'm 17 weeks now and had 3 scans. I mentioned reading about false positives and I was told this wasn't the case and it's was really accurate. My argument was that it was a screening tool not diagnostic. My husband and I both have degrees in Biochemistry so it's not like we don't understand what we have read. I am shocked that the medical professionals were trying to tell me that it was really accurate and dismissing false positives. I am low risk for Downs so for me NIPT is not the best next step in my opinion for ruling out Edwards and Patau. I tried to do CVS but my placenta was in the wrong place. I now understand that in rare cases the placental DNA can be different from the babies so really that should of been explained. I have to say I feel at the moment the NHS has failed me and if it wasn't for the fact I like to research everything and I also have scientific understanding then I may feel really lost in the process. I'm currently waiting for the phone call with my FSH results. The trust here don't run the full karotype unless something shows up on a scan.

@Sunfi I am so sorry you are experiencing this. Sometimes having the knowledge to challenge is both a blessing and a curse.

5 months ago we were told following CVS that our baby had a 1% chance of survival due to Edwards. We were classed as high risk for Edwards and Pataus originally and were also encouraged to have NIPT - which is only around 30-40% accurate for said conditions.

I say stay strong, although I know it is hard. If it helps to hear, I had my baby last weeks and she was born in perfect health. Me and my husband have both said “what if we’d not followed our instincts and had followed the advice from the professionals?”

It is scary but there is a lot of misinformation around and sometimes professional knowledge is limited. Sending positive thoughts your way X

Hello,

I read through the thread, and saw that the discussion has moved away from the original ask. However I'm really curious where all these stats come from ? My nipt results included stats about false positives and false negatives, and it was nowhere near as bad as "up to 60-70% false positives".

I could see a private company not drawing attention to bad stats, but if they're the ones providing these numbers without being asked, I can't see the point of publishing false stats. Indeed that would be opening up to sueing, wouldn't it ?

According to the stats I have, false negatives are actually more common than false positives (contrary to what was stated earlier on this thread). This makes sense to me ; since they're analyzing free cell dna, they might miss abnormal cells and see only normal ones (false negative, especially in the case of mosaicism) but if they do pick up some abnormal cells, those had to come from somewhere.

This aside, I'm not sure what the perfect solution might be. If we acknowledge that none of the current tests are 100% foolproof, then any testing is going to bring anxiety and the pressure of making a decision while knowing it's harder to terminate as the pregnancy progresses.

Despite the nipt not being perfect, I've seen enough threads about the NHS test to conclude the nipt is superior, at least when screening for the main genetic disorders. It might be even better to have both tests but I think that's unlikely for cost reasons.

Invasive tests include a risk of miscarriage, however small, and so ethically cannot be promoted as routine tests. Aside from not performing tests at all (which bring its own ethical issues) there isn't a better solution than relying on imperfect screening tests to work out who should go for the invasive tests. And yes this will necessarily bring anguish to some, while providing valuable reassurance to many.

As for the proper information being given, I fully agree and not only for the nipt. My own doctor tends to just say "everything is fine" without going into details. If I want to know more I have to ask. It would be nice to be given the full picture - for this and for any other medical situation.

However, regarding the nipt specifically, we have two possibilities :

• either it is done privately and presumably, if the person can afford it, they have access to the information/education necessary to do their own research about the tests (as indeed they should). Obviously this doesn't mean the company offering the test shouldn't make sure the client understands what the test can and cannot do.

• or the test is offered by the nhs and then the consultant should advise accordingly.

@Marphase not going to repeat everything that has been posted previously but indeed false positives are a major issue. One of many articles for your attention “ The ‘PPVs’ for Edwards’ syndrome and Patau’s syndrome were even lower - 37% for Edwards’ syndrome and 49% for Patau’s syndrome.”

If you care to read more, information is accessible if you read around throughout these threads. The whole point is many people do not realise the PPV level and that this can mean only 30-40% accuracy - and these are the tests we know about. Many conditions have not been tested/verified robustly so may be even less accurate.

www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html

Congratulations on your new arrival @SarahD19. So pleased that all turned out well for you.

@MajorFaffington thank you very much. She’s perfect and we cannot believe how lucky we are 😍