Worried about NIPT promotion

[SarahD19]

This is more of a rant than anything, but having gone through a very traumatic and laborious diagnostic process throughout my current pregnancy, I have felt very triggered hearing people (friends and even professionals) talk lightheartedly about NIPT and stating things like “this diagnoses all your baby’s potential health complications from just 2 months pregnant and is 99% accurate” etc etc.

I wanted to point out it is NOT a diagnostic test, and in some instances, it’s predictive value for conditions is less than even 50%.

It scares me as even a CVS I had at 14 weeks was problematic as placenta was not the same as amniocentesis results. NIPT only aims to analyse cell free DNA from what I can tell which they cannot necessarily even guarantee is from the placenta, so the test is even more flawed.

I’m even more concerned that we have people at 2 months pregnant taking the test, but the earliest amniocentesis can occur is 15 weeks onwards depending on availability etc. Hence even if people have these tests, they’d often be waiting at least a month in limbo for follow up - or could just abort without doing so and terminate healthy pregnancies due to inaccurate/misleading information.

Finally, I’m even more worried that many of these tests are done privately and are heavily promoted with misleading statistics to gain popularity it seems. Claiming for instance to be 99% accurate when less than 1% of a population would have a condition means ANY such test could claim high accuracy across a general population - but limited diagnostic value.

To clarify none of this rant is a criticism of individuals choosing to take these tests or the decisions an individual would make - so much as I am concerned about the ethical responsibility we have to individuals in terms of understanding the profound limitations of these tests.

Rant over! Just wondering if anyone else shares my concerns or if I am just being sensitive and hormonal due to my own experience (probably a bit of both!)

@Rubyroost I am very sorry for your loss.

I wonder if perhaps due to reading this from a different perspective from what the thread is centred around (i. e. Distinguishing false positives), you are missing the context? It is not a matter of me trying to ignore or minimise what you say. I am sorry if this is how you have experienced this thread.

In the case of false positives (which this thread is cautioning around), the norm would be a normal ultrasound alongside a positive NIPT and having to go through full diagnostic processes - often completely unnecessarily.

The situation of having structural abnormalities alongside other risk factors such as high risk NIPT and/or initial CVS cultures that are positive, is a completely different context. Can you see why I am confused by your comments?

No I don't see why you're confused. But you're certainly confusing me. On the one hand you're saying that false positives lead to unnecessary abortion and then on the other you're saying that they lead to unnecessary diagnostic testing? Which is the lesser of two evils given that earlier you said that the amount of miscarriages in diagnostic testing is overexaggerated ( and I agree with this point, but I guess people don't like to take the risk whuxh is why they go for nipt)

How is that not clear? If people are given false positives and also misinformed during these processes then both of the following are very clear risks:

• unnecessary diagnostic tests.
• termination of healthy foetuses due to being unable to withstand either months of uncertainty during prolonged testing and/or being misinformed.

Is this not clear in some way? What is the issue you are bringing?

I feel like you're going round in circles. Termination of healthy feotuses wouldn't happen with unnecessary diagnostic tests. Unnecessary diagnostic tests prevents termination of healthy fetuses.

Please read the thread properly before commenting further. I agree this discussion is circular - but I think this is because you’re missing the points made and seemingly taking offence. I don’t see the point in repeating everything again.

The situations and contexts you bring are different to the issues I raise. I have already distinguished (in extensive detail/discussion) the benefits of NIPT in risk management where there is a context - and acknowledged when this can prevent invasive tests and be a positive.

When there are false positives, this does mean people may face unnecessary diagnostics, trauma and the potential for people to feel unable to tolerate uncertainty. Additionally people equate NIPT as diagnostic or basically equivalent to diagnostic tests. Sadly both of these factors, coupled with time pressures to terminate, can result in unnecessary termination of healthy foetuses.

As I think is resoundingly clear through my comments, I am not opposed to NIPT, I am opposed to NIPT misuse.

But this is the case with nhs testing.. False positives create unnecessary diagnostic testing particularly if the trust does not offer nipt or people cannot afford to go private and have a nipt test.

@MamaNaz20 congratulations on your pregnancy. If you are anywhere near London have a look at the Fetal Medicine Centre on Harley Street. They offer a really good package and they offer NIPT alongside the nuchal screening. If you receive a high risk result they will carry out further testing at no additional cost.

The clinic was founded by a highly respected foetal medicine specialist and is run as a not for profit. I found them to be very professional.

fetalmedicine.com/

@Sunshinegirl82 great thanks so much - yes that's close to me; I'll call them next week.

@MamaNaz20 good luck! Hope both the test and pregnancy goes well 🍀

I live in the US at the moment where NIPT is offered as standard at the nuchal screening appointment. Like many of those here, the test was sold as around 99% accurate and a standard procedure for mums over 35. Nuchal screening came back normal but I was then told I was “positive” (at increased risk) for partial monosomy 18! I hadn’t even realized I was being tested for that but I suppose it’s part of the Trisomy 18 test. I now have to wait for an early anatomy scan at 16 weeks and possible amnio (I’m still deciding about that part and desperately trying to find data!). The most stressful aspect of the whole thing is the fact that for monosomy 18, the consultant has absolutely no data on accuracy, false positives, etc. to share so I’m now stuck with a 2-3 week wait. If I had known they would test for things other than the 99% accuracy (which reading this, doesn’t seem to be the case) trisomies, I don’t think I would’ve had the test. I wish I was back at home with the good old NHS. This whole process has been misleading and incredibly anxiety provoking.

Haven’t read all the replies but I just had an incidental finding for a rare chromosome deletion from my NIPT. I didn’t ask for the extended test just the basic one for 21/18/13 which came bsck normal. Now they asked me for a second blood sample and I am in the crucial wait for the next results. My NT scan came all back normal but I am high risk due to my age 42.... I am so much hoping for a false positive...

Thank you for this interesting thread and discussion- I found it very informative and wish I had discovered it earlier. I am one of those people that had a (supposedly) very rare false negative with Natera's panorama test. It has been difficult to come to terms with, although we have an amazing adorable daughter and I would not change a thing about her :) But I am incredibly angry and frustrated with how these tests are portrayed and the ambitious and misleading ways the companies are promoting them. I am wondering if anyone else here is concerned that the American College for Obstetricians and Gynecologists (ACOG) is now recommending NIPT for all pregnancies regardless of risk. Their reasoning is not clear to me and I dont see what new evidence or studies they are citing. I know that there has been intense lobbying on the part of the companies for this change as the expectation is now more women will take the test. Why the change now?
www.genomeweb.com/molecular-diagnostics/acog-guidelines-recommend-nipt-all-pregnancies-regardless-risk#.X0qoVNMzZ_Q

@SarahD19 firstly, thank you for trying to explain to all of us. May I just ask, and it’s really not a challenge, simply a question, as unfortunately I have just received a high risk NIPT for T21 (age 40), and scheduled to have my CVS in three days, what’s the source of below?

“ In the event of a “High Risk” Downs result, there would still be at least a 20% risk of this being a false positive and you having to consider if you wanted to go down the route of diagnostic tests.”

It would give me something to rely on. I also research a lot.

Well I just had one of these tests and I completely understand what it can and can't do. I had really good advice from my nhs midwife who pointed out all of pros and cons and did my own research.

You are right to point out some of the claims of less than reputable private providers as a lot of them are not proven. Not to mention their lack of potential support for mothers if the result is positive.

However, I think you are wrong to scare women who are currently awaiting results. You focus on what it can't do rather than what it can. My baby might have Down's syndrome. This test will give me a better indication of this and allow me to make the difficult choice to have invasive tests. This is a good thing. Maybe focus on this rather than assuming (wrongly) that it is always being poorly promoted.

Hi @Tqlina and @thirdtimeluky I took a break from Mumsnet as frankly I had been fed up of all the negativity expressing these concerns brought. I really hope you’re both ok and sorry to have not replied sooner.

@tararoo I don’t feel the need to state the benefits of NIPT more than I already have. I’ve already discussed extensively that the test can provide reassurance in certain contexts like you describe.

Given NIPT is a multi-billion dollar industry it is already heavily promoted. I don’t wish to stop NIPT being used, simply think that it requires better regulation. I’m hoping as it is embedded within the NHS more, this might be an opportunity for better oversight.

I would say NIPT is pretty accurate for trisomy 21, that is Down syndrome, also have alright accuracy for trisomry 13 and 18, but quite rubbish for sex chromosome abnormalities. You can also be quite sure that your baby is alright when the test result all shows "low risk", but a "high risk" result can some times be a false positive.

@sarahsunrise NIPT is indeed accurate for a screening test. If you look at the general population, a positive result for Downs Syndrome is around 80% accurate and 37% accurate for Edwards Syndrome (Positive Predictive Value).

Unfortunately many people who get the above results are often quoted “over 99% accurate” etc. As long as people know these limitations then that is ok, the issue is that not everyone does. In fact looking at these threads, the majority do not, or only understand some of the limitations.

In higher risk contexts, the test may be more accurate. But again, many people do not understand sub groups - or the difference between detection rates, test sensitivity and positive predictive value.