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!)

Sorry @paranoidkaty my reply was meant for you rather than @MotherofKitties! Sending love x

I agree with your post

We went for our 12 week scan and had the most awful time. It took the sonographer so long to get the measurements and then she just didn't say anything for ages and we kept asking is everything okay and she said no not really and then silence it was awful eventually it came back that NT was 4.7 MM.

We didn't even know what that meant we were in so much shock I was only 29. We got taken into this strange little room past a huge waiting room of people who all stared at us and they were speaking as if it was a given that the baby would have problems.

They said they wanted to send us for a harmony test and when we arrived at UCLH the consultant said no we definitely need to do CVS but I'm so confused why we were given that advice originallly. They imply the tests are the same except one is non invasive.

Long story short - we got the all clear and I have a beautiful one year old.

But I was a hugely confusing time and people said to us why aren't you just having harmony etc. People think they are the same.

Sending love to all those in the midst of a scary time. It's so awful 💐

@doadeer so sorry you’re going through this! If I can help through PM please feel free.

Funnily enough health professionals told me the same when I was flagged as high risk following 3 month check up. This is why I’m on my soap box now - because NIPT for the trisomy they thought I was high risk for, would only be 30-40% accuracy through this test and I was told it was basically diagnostic! It was through my own research I found out only CVS had any diagnostic value - and even that is flawed.

Some NIPT results have gone through no verification process in terms of Positive Predictive Value (i. e. The likelihood that a diagnosis might follow). It is fraught with false positives and people are literally terminating healthy pregnancies due to misinformation xx

Sorry just read the last bit of your post and thought you were in that situation still! Dangers of quick scanning during lunchtime 🙈🙈

Haha no problem. We were very lucky. Others aren't xx

I agree with this! Dd1 had a rare (still undiagnosed) genetic condition. No amount of nipt or cvs/ amnio can reassure me in my current pregnancy because the condition can’t be tested for. My NT was high for twin A in current pregnancy and it has Polyhydramnios, both of which can indicate genetic problems. I’ve had the nipt which came back low risk for downs/ edwards/ pataus and have been offered an amnio at 32 weeks but don’t feel reassured at all. Cardiac scans have come back clear and so far, apart from the Polyhydramnios, everything else looks ok on scans.

@Sussexmidwife
Just had a conversation with a doctor from FMC who listened to all I had to say but was quite firm that I was low risk and that I absolutely need to do nothing else until 20 weeks anomaly scan.
She absolutely didn’t recommend cvs or amnio and she felt 1:1338 risk (on their adjusted assessment) was totally worry free and I should put the 1:47 from nhs out of my mind.
I think I needed her to be a bit abrupt with me!
Thanks for all your kind words and reassurance everyone.

@paranoidkaty - how reassuring for you! They are brilliant at the FMC. I hope you can relax now and enjoy your pregnancy ❤️ All the best!

I can’t relax at all!
It’s constantly going round in my head and really thinking I should have gone for the amnio to have more of a definitive answer.
The 6w wait for my 20w scan is awful and I just feel so detached from the pregnancy I don’t even want to admit I am!

@Paranoidkaty I completely understand and sorry you are going through this. It is the most awful thing about screening and diagnostics that there are rarely any definitive answers - and even the tiniest uncertainty can feel unbearable when it is your baby.

The statistics are in your favour however. Keep reminding yourself that as much as you can xx

@Paranoidkaty I feel a little worried that discussions like this have caused you to go through the exact thing that we are all so upset about in the first place, which is to say--unnecessary worry.

I really want to be clear that the NEGATIVE predictive value of the nipt is VERY high. (I can link you to a calculator if you want to see your specific NPV). In short that means that the odds of a false negative for the trisomies it tests for are very, very low. Like .000001% chance of that happening low. You should feel extremely reassured by your results on that test.

My issue with the test is that the marketing doesn't make clear that this is a screening test with a surprisingly high false POSITIVE rate. For certain trisomies the false positives are as high as 70% of all the screening positives. And because we only hear "99% accurate", women are considering terminating healthy pregnancies, and more commonly, going through incredible anxiety for months, which has a real and measurable mental trauma attached to it. Which you yourself are now experiencing!

I can empathize with what you're feeling completely, as I've had a clear result on the CVS and am still questioning if I can even trust that..plus wondering what else might have been missed even at 34 weeks along with nothing else strange showing up. So I'm going to sound like a total hypocrite when I write this, but I truly do not think you need to worry about the trisomies you were screened for anymore, and I would absolutely listen to your doctor on this one.

@georgiablue2 very similar to what I was thinking too! I think all these tests in general can overwhelm and make us more risk averse. Certainly the more tests I had over the 4 months of screening/diagnostics, the more jaded and anxious I became, so don’t think more tests are the answer. The tests already in place suggest baby is well. Now @Paranoidkaty do whatever you need to relax and take care of you. Hot baths, meditation, relaxing walks - anything except more research or tests.

I was talking to someone about prenatal tests in general, the most relaxed person ever and she goes “oh forget all that! I didn’t do any tests with mine except ultrasound! Whatever will be will be”.

Although I always thought knowledge was power, part of me just thought “I want what she’s got and I want it in a bottle!” 🤣

@SarahD19 you raise some very good points there! More tests can definitely raise anxiety levels and yes it would be nice to not worry and allow what will be to be! I could also use some of that if she bottles it 🤣

@Paranoidkaty I hope these messages have been a comfort - I think it is about finding your coping strategies now and particularly given your reference to ptsd in another post, I think some counselling and further support would be really beneficial. The uncertainty over our baby’s health has been by far the most traumatic experience I’ve been through and haven’t always had things easy before now! So please take good care of yourself xxx

@Paranoidkaty I would add again that in terms of NIPT, literally the route where it has the most statistically significance and validity is in respect to Downs Syndrome and “low risk” assessment. It is also best suited where screening has identified “high risk” based on other statistical risk factors. You are technically within the optimum clinical group with the optimum outcome - please let this speak to your mathematical brain!

Your situation is basically where the NIPT test has optimum conditions and outcomes. The test is being utilised in the most appropriate way in your circumstances. As much as I have posted this thread, the situations I describe are not yours.

If NIPT was used and there was a “high risk” result, particularly in respect to any Trisomy other than Downs, I would be very very clear about those limitations.

I appreciate with PTSD that any pregnancy would be stressful and traumatic, but please please try to take these comments as reassurance. Sending love and positive thoughts to you xx

@Paranoidkaty I am so sorry about what you have been going through. Like you, I had a high risk combined test and low risk NIPT and I know what it’s like to be in such a heightened state of anxiety following the combined screening that it still manages to creep back in after an initially reassuring low risk NIPT result.

As PP have said, a false negative NIPT result is VERY rare, and you should be reassured that both the NHS and FMC confirm that further, invasive, testing is absolutely not indicated in your circumstances. As others have said, further testing will only raise your anxiety levels even more, when all of the current evidence you have shows that your pregnancy is unaffected. All your combined test results tell you is your hormones are a bit wacky (I had very high bHCG and slightly low PAPP-A too, and NT was pretty normal).

Like you, I was worriedly anticipating my 20 week scan, expecting that extra investigations/care would be taken and feeling that the high risk combined screening result was going to continue to be relevant to my pregnancy throughout. At the end of the scan, which was identical to the 20 week scan in my first pregnancy, I asked the sonographer if she needed to do any further checks because of my high risk combined screening result. She was (reassuringly) disinterested and said that as I had a low risk NIPT, this is so accurate that it would trump anything she might find. So after anxiously waiting for the scan, I realised that the NIPT result was the end of it after all, and the most notable thing that happened during the scan was repeated sightings of a (seemingly gigantic) willy that meant we couldn’t have avoided finding out the sex even if we had wanted to!

@MajorFaffington lolllllll😂 how funnny

@SarahD19 @jmm499 @georgiablue2 thank you also for your reassuring comments.
I do seem to have peaks and troughs of anxiety and yesterday was a bad day and you end up down rabbit holes on here and google etc.
Thank you all so much for being so reassuring.
I will likely still be incredibly anxious at the 20w scan but i feel if I keep busy until then and try and enjoy things I should hopefully curb my anxiety.
I’m not sure where to try to find any pregnancy counselling about this? Anyone have any tips? The antenatal screening midwife didn’t suggest anything and the county midwife either..

Have you rung Arc they may be able to signpost you? I'm glad you're feeling better today. Unfortunately for those of us who have had very high risk initial screenings still have periods of time when despite all reassurance from professionals, those dreaded 1 in..... numbers come back to haunt us. I am trying to take it as reassurance that many NHS trusts now see NIPT as a reliable second screener for DS particularly, and crucially if there are no other question marks that come from the ultra sound. Despite a 1 in 13 chance of DS my sonographer didn't push the amnio at all. Infact she made it very clear that my age and funny bloods most likely pushed the risk right up. Despite a highly unlikely nipt, a clear 20 week anomoly and 23 week doppler scan I can't seem to shake that dreaded 1 in 13, but I am determind not to let it ruin what should be an exciting time, especially as this will be my second and last child. At times I had the amnio for absolute reassurance but I know I'd probably be worrying about the pregnancy as a whole, simply because of the initial shock of the screening results.

@Paranoidkaty I may be able to help Please do feel free to PM me

@Paranoidkaty from what I remember of your other post regarding the trauma you faced, I am absolutely not surprised that you are feeling this way. It is completely understandable given everything you have gone through in the past and just wanted to say that really - not sure if that helps though!

I know as my situation got increasingly complex and the months past, I was made aware by the Midwife Team of their being a specialist IAPT (Improving Access to Psychological Therapies) team which I could be prioritised for given that they knew I was facing significant trauma. I was also signposted to SANDS various times, which given what you have faced before, might also be relevant? I am not sure of eligibility and access in your area.

Just know I’m thinking of you and really hoping you can be in a good place to enjoy your healthy baby and pregnancy as much as possible xx

@Liveforholidays good luck with your pregnancy! And yes I agree that NIPT as a second screening for high risk Downs Syndrome is fairly reliable and appropriate. A low risk result is robust.

As @georgiablue2 and I have mostly covered, I wanted to stress my post isn’t about “low risk” NIPT results. My post is about identifying the following:

• The extremely high false positive rate from NIPT tests for pretty much all trisomies, particularly ones that are sit around the 70% false positive mark (including lethal conditions and ones involving sex chromosomes etc which have the potential to cause an extremely high level of anxiety). Downs is the only NIPT trisomy that can evidence above 50% validity in terms of Positive Predictive Value (i. e. Ability to detect the presence of condition). Yet it is marketed as “99% accurate” for all trisomies which people assume is the predictive value.

• The misinformation and mishandling of the test both through providers and NHS professionals who lead many to think it is diagnostic or close to diagnostic.

• The risks of early testing (e. g. 9 weeks onwards). The fact people market this as “reassuring”, when the reality is that the test is profoundly limited and lacking safeguards/ regulation. In terms of any pregnancy the 12 and 20 week ultrasound is timed as such for a reason. Any test taken so early requires appropriate caution.

• Normalised and unregulated distribution of these tests ultimately this can mean a woman could face 2-7 months of unnecessary (and often invasive testing) completely unnecessarily throughout her pregnancy. Be led to believe her baby has a profound or fatal illness.

• That the above can and has resulted in people going on to terminate viable pregnancies. Likewise women and families are being literally left highly traumatised due to all of these factors. It is documented that diagnostics and screening, particularly when drawn out (especially if linked to loss of pregnancy, can cause long-standing trauma, including conditions such as PTSD).

@SarahD19 Thank you for confirming that and all of your reassurances to PP about low risk NIPT results later in this thread- it was situations like this that I was referring to in the other thread where I said I worry a negative narrative surrounding the NIPT might cause women unnecessary anxiety.

All the best for your pregnancies Sarah and @Paranoidkaty

@Majorfaffington my stance has always been that in terms of risk assessment/management NIPT is a useful tool and can have tremendous benefits (as I think I state even in the first post here). Particularly I think where Downs Syndrome is the risk identified (although even in such instances any person taking the test needs to be informed regarding false positives etc). My worry is all these other issues due to how it is rolled out currently - alongside the lack of accountability.

I certainly do not wish to be a source of anyone’s anxiety and am trying my best to be clear about the limitations whilst balancing reassurance. My experience currently is a lot of people seem to be caught up in the hysteria of it all as NIPT popularity has grown so much, so quickly. I have been alarmed, and at times, disturbed by how many misconceptions there are.

I do completely understand your concerns. I just felt your recent post was very clear in clarifying where your concerns lie whilst confirming the strength of the NIPT with regards to low risk results. That’s all I was aiming to say with my post 😊

I will just add one thing. If u have a high risk NIPT result your consultant will work out for you the exact percentage of likelihood of it being a false positive. This will include your age, blood results and any markers on a scan. It is not left open ended.