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!)

[Conorgog]

Agree agree agree, the NIPT has a place BUT it is not diagnostic.

Fortunately (within NHS anyway) I think the step before termination massively encourages women to have a diagnostic test (cvs or amnio).

Here is a good article from mid Jan

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

You are not hormonal - you just like to have all the information! (Like me 🥳) big hug!

[SarahD19]

Thank you! And I 100% agree there is a place, for instance alongside a medical issue/ultrasound where there are already concerns and anxiety is high in the bigger picture. The NIPT can inform part of a picture in assessing risk, but that is not the same as diagnosis.

It scares me as I saw a friend yesterday discussing NIPT who truly believed at 2 months you can “diagnose everything really accurately” from a mother’s blood and saw it all as fun. I honestly walked away holding back the tears at having tried to articulate my frustration. To me the thought of having an NIPT give a positive result at 2 months pregnant, knowing you can actually fathom very little prior to the 4-5 month mark - and a person could be left with that uncertainty is beyond all comprehension. I don’t think I could tolerate it and understand many might choose to terminate wither due to this uncertainty or misinformation around NIPT diagnostic value - no person should have to carry that.

Essentially my experience with Fetal Medicine has highlighted even with CVS and amniocentesis, there is no certainty. The consultant I have had very much adopted a position of “not knowing”, and was very clear about the pitfalls of diagnostics.

My own CVS and amniocentesis results were discordant - and as you say, these are actually diagnostic tests which have far more accuracy than NIPT. I think we have a duty to better inform people around these tests and their profound limitations.

It is exciting we are starting to reach a point we can draw some assessments of risk from NIPT and a mother’s blood. However we are a long way away from this being a diagnostic process.

[Sussexmidwife]

@SarahD19 I am absolutely with you on this. I have been very worried about what people are being told. In my work I talk to a great many people who have had/been offered NIPT and I share your grave concern that in many cases they are allowed to/led to believe that these tests are diagnostic and show that "everything is alright".
After a great deal of soul searching I finally decided to offer NIPT within my services, mainly in the hope that it would mean that less people get incorrect information and advice. However, I find that some people back off when i say that the consultation will be around an hour (so that I can make sure that they have understood the pros & cons of testing and it's limitations)
Even as a midwife I had to register with the CQC to offer NIPT. I was reassured in a way by that, until the inspector said "right, we are not discussing your midwifery practice, just the diagnostic test you offer". We then had a long and very worrying conversation in which it became clear that as an inspector she did not understand the difference between screening and diagnostic testing.
I plan to take this up with CQC.
Without doubt NIPT has a place in fetal medicine but much greater regulation and education of those offering it is needed. Many of the labs will accept samples for testing from anyone who can put blood in a bottle.
The issue of how "screen positive" results are handled in another massive issue. If one of my clients gets a screen positive I always provide ongoing support, but in so many cases the result is just sent to the client with the information "this is an abnormal result- you need to discuss it with your NHS provider". I feel that is immoral. My rant over (for now!)

[SarahD19]

I find it so reassuring to read your message and see that you not only share my concerns but are actively doing things to address what is happening. I was wondering if it was just me! Thank you for your message @Sussexmidwife

[mjas]

@SarahD19, your concerns are spot on a d were raised by Nuffield Council on Bioethics www.nuffieldbioethics.org/blog/nipt-private
There is definitely an important place for NIPT in prenatal diagnostics, but it's limitations should be clearly stated.

[SarahD19]

@mjas thank you. It is reassuring to hear professionals such as yourself are following this up.

It worries me particularly with rarer trisomies and more severe trisomies like Edwards for instance. We know with T18 that it can cause in utero demise so occurrences such as vanishing twin early in pregnancy can cause false positives. Likewise confined placental mosaicism is more common. As such tests like amniocentesis which cannot occur until much later, are vital for diagnostics. NIPT has very poor positive predictive value and even CVS can throw up false positives (but at least longer term cultures can point towards mosaicism - a safeguard which NIPT does not have). It is so important those going through the screening process understand this and are open about those limitations. Giving parents-to-be news that their baby could have a fatal condition should not be taken lightly...

[georgiablue2]

Just to add, I posted a very similar rant about this in a different forum. I work in advertising as a copywriter and strategist (thankfully the brands I work on are fashion and luxury goods where the stakes are incredibly much lower), but I have been so disturbed by the way the Nipt (and actually all prenatal screenings, but especially Nipt) are marketed. Especially as much of the misleading messaging is coming THROUGH doctors, who we take to be the authorities. After an increased NT scan, I was offered the Nipt, and was told 99% accurate. When I researched on my own and read that the Nipt PPV for sex chromosome disorders for most people hovers around 30% I was completely horrified that that was NEVER MENTIONED. (I ultimately opted for CVS, but again, this was based on me being someone who goes crazy with research).
Anyway, the situation had (and still has) me so disturbed, I've wondered if there's a way for me to use my professional skills to do some kind of awareness work around this. And @Sussexmidwife, I've seen you post on here and want to say thank you, as I have felt zero support from my medical community taking me through a high risk screening result, and was desperately looking for someone to help me understood what it all meant. I ended up spending a lot of time on PubMed to understand the implications of things, when I wish someone would be walking me through it. Our genetic counselor emailed me with some positive results, and called me by my last name (didn't even seem to realize what my first name was). That's how little support I felt we have gotten!

[Sussexmidwife]

@georgiablue2 I would be very interested to share some thoughts with you. Shall we PM?
Yours is an awful (but all too familiar) story to me.

[SarahD19]

@georgiablue2 your story sounds eerily similar to my position in many ways. Even right down to the personality type of researching everything religiously. I was searching through the latest medical journals in the early hours.

Some people, particularly those who haven’t been through it, are quite flippant and it enrages me. These are babies we are talking about - and real parents with real attachments and emotions who have envisaged their dreams, their families - to have it ripped apart by the most devastating news imaginable. Usually much wanted babies, growing and moving around, often during advancing pregnancy whilst these tests are carried out. I don’t understand how this sort of conduct is enabled and so embedded.

Honestly I cannot even put into words how awful I find it 😢

[SarahD19]

Although the consultant I had in the end was very competent, I was initially encouraged to have NIPT and termination was suggested at the first mention of me being higher risk from the first trimester serum screening. It horrifies me. And I had to really push for amniocentesis following the rapid CVS showing T18, prior to the mosaic long term culture. I was literally being told I could go into hospital for compassionate induction the day the long-term CVS culture showed mosaicism 🙈

[georgiablue2]

@SarahD19 Oh my goodness, what a traumatic process you've been through! It's such a double edged sword... I'm truly grateful for early prenatal screening on one hand, as the opportunity to make informed choices early on is invaluable. But as you said, our actual 'testing process' (including the full CVS results / microarray / noonan's panel / anatomy scan / echocardiogram) took over 8 weeks. At 32 weeks pregnant, there's not a single day that that nuchal translucency screening isn't completely on my mind.
@Sussexmidwife I'd love to hear your thoughts! Please feel free to drop me a line. (I'd also love to know if you have thoughts that can assuage my ongoing anxiety as I'm now less than 7 weeks away from meeting this baby and am once again plagued with worry despite all the above testing coming back normal. Initial NT measurement of 3.7mm.)

[GrumpyHoonMain]

Most private clinics do a scan along with NIPT from 10 weeks. It is possible to see certain disorders (patau and edwards for example) early with the right equipment. The NIPT will serve to confirm (or not) the consultant’s opinion and then a CVS can be arranged asap.

[SarahD19]

@GrumpyHoonMain a scan at 10 weeks would in no way be sufficient to rule out Edwards and Pataus. Nor can a CVS confirm such conditions as I have found out from my own personal experience.

I am currently 29 weeks pregnant and even at my 27 week ultrasound, my Fetal Medicine Consultant was still keeping a very attentive eye on baby’s development due to early screening results indicating Trisomy 18. This remains on my mind constantly despite the fact the 27 week scan being positive and tests indicating my baby would have very low grade mosaicism if that.

I am unsure where you got your information from, but it is misguided and overly simplistic.

@georgiablue2 Completely agree. It is traumatic and my experience will stay with me. It has completely ruined my pregnancy experience this time around. Given I didn’t have NIPT and my negative experience essentially began from 3 months I cannot begin to think how we would’ve managed if I faced such a dilemma having had NIPT at 9 weeks.

[Viletta]

Interesting to know!

@BambiOnIce80 what do you think?

[Paranoidkaty]

I’m in absolute turmoil.
Had the call from the midwife: high risk of 1:47 for Down’s syndrome.

Hcg 5.0MoM
PAPP-A 0.6MoM
NT 2.1mm

Nasal bone seen and all normal on scan including blood flow through the ductus venosus.

I’m 33 so wasn’t expecting such a bad result but it’s high due to the high hcg and low PAPP-A.

I’ve had the harmony test and it’s come back low risk

[Realladymarmalade]

Paranoid Katy I cannot advise but wanted to offer my support...I'm.not sure what I'd do it my NT was different . What did you me advise ? And how old are you as that can impact on the risk statistic ?

I'm actually due to get my dating scan today and hadnt planned on doing the NT at all , but wondering if I should. My harmony came back 1 in 10,000. This thread is really stressing me out.

[Realladymarmalade]

What did your mw advise ? I can see your age is 33 now sorry , half awake

[Paranoidkaty]

Mw seemed happy with me having harmony as if it was low risk that would be that.

I had the harmony test at the fetal medicine centre where they do a more detailed ultrasound and add the markers or ductus venosus flow and nasal bone into the calculation too.
There my risk came out 1:1342 which is so different to the NHS one.
This is what has confused me more- if I never had the nhs one I would be feeling positive and great. Instead I’m considering invasive sampling on what could be a normal pregnancy.

[MotherofKitties]

Someone I know had a private NIPT a few weeks ago and didn't realise it wasn't diagnostic, and when the results came back as a 1 out of 10'000 chance of Downs she didn't realise it wasn't a 'yes' or 'no' result, which I was really surprised by.

I've gone ahead with a NIPT test at 12 weeks knowing the reliability of the test, and I feel fortunate that the clinic I went to was quite clear about the tests capabilities and limitations. Like PPs, I tend to research to the nth degree and felt that in my case it was still worth it, but I agree that there is a LOT of very misleading information about NIPT out there, and women should be cautious about their expectations before considering the test.

[Sussexmidwife]

@Paranoidkaty You should discuss this again with the fetal medicine centre. When giving you the Harmony results they should have given time to discuss your feelings.
The false negative rate is absolutely tiny - provided there is a reasonable amount of fetal DNA present. How much is enough is hotly debated, but around 10% is a very good level. The less fetal DNA the less confidence there can be in the result.
Overall though, what you need to focus on is that the combined test is a very non-specific assessment. Your hormone levels were not "average" but are within normal ranges. The fact they were not average skewed the combined test result.
The Harmony is a specifically focused and much more accurate assessment and has given a very, very low chance result. If you had been given a 1 in 10,000 chance from the combined test i very much doubt that you would have thought about it again.
The risk of miscarriage following invasive test is much greater. The NHS tells clinicians to advise 1 in 100 chance, but in reality the chance is lower than this if done by a very experienced clinician. Even so, I think it would be quite difficult to justify in your case.
Give the FMU a call and talk it through with them

[Sussexmidwife]

@MotherofKitties your friend's experience is all too common. The regulation of who can offer these tests and what education they have to have first really needs to be addressed. The CQC are the inspection body, but in my own experience the inspector who came to assess me didn't understand the issues herself and kept referring to NIPT as a diagnostic test....If the inspector doesn't know there is little chance of them only accrediting people who actually know what they are talking about.
Even so, I would encourage your friend to report this to the CQC. It could also be an interesting case to make a claim for mis-selling I wonder what trading standards would make of it? The Advertising standards authority are addressing the misleading adverts but it is the actual practitioner who need to be regulated.

[SarahD19]

Hey everyone. Whilst I am not a fan of NIPT as there are so many false positives and misconceptions around diagnostic capacity, I wanted to say if you’ve had a “low risk” result that is not the part that is controversial. If “low risk” that assessment is reasonably robust and, I hope, reassuring.

I post more for those who get given high risk results and are led to believe it is diagnostic or equivalent to procedures such as amniocentesis - which it is not.

Wishing those of you who have had the test, all the best in your pregnancies. X

[SarahD19]

@Paranoidkaty this was very similar to my experience. Same age etc but with Edwards, Trisomy 18. The standard NHS screening marked me as high risk.

If I can help in any way at all (as I know it can sometimes help speaking with someone who has been through similar), please feel free to inbox me xx

[jmm499]

@MotherofKitties sending lots of love as I was where you are a few weeks back. I had high risk NHS screening (1 in 3 for DS) whilst awaiting the results of the Harmony test (which is where the NT was first noted as increased). My Harmony results were low risk and I felt confident in those (and was fully aware of limitations as a screening rather than diagnostic tool) for the 3 trisomies they tested for. We made the decision to have an amnio at 16 weeks (at the Fetal Medicine Centre actually) as the NT measurement was the main risk factor for us (4.7mm) and we were worried there were other things that it could be. We had the all clear from that. Just waiting for our anomaly and cardiac scan now 🙏🏻

As @sussexmidwife says, the false negative chance is very very low and that was enough to reassure me for those trisomies.

@Realladymarmalade I can understand how this thread might worry you from the earlier comments but I read it more as a caution for false positives from NIPT and the distress this can cause when there is then potentially a long wait for a diagnostic to give a more definitive answer. Like I said, it was enough to give me some reassurance in our case despite it being a screening rather than diagnostic tool. Our worry continued due to the high NT. Even if I hadn’t opted for the NHS screening, our NT would’ve been flagged to us as it was outside of ‘normal’ range so I think they’d probably be obliged to raise it if this was the case for you anyway. I really hope you get reassurance from your scan today ❤️❤️❤️

[Paranoidkaty]

@SarahD19
Thank you so much for your reassurance. Im a scientist; and figures, stats and percentages can sometimes override my rational brain. The shock for me Was the huge difference between NHS and Fetal Medicine centres combined tests which just really flummoxed me.

@Sussexmidwife also thank you for your reassurance as well. In all other forums other expecting ladies have had the same situation and were completely reassured by the low risk harmony result. I agree CVS just wouldn’t be justified, however, i think if I had known or the fact you can get false negatives with harmony I would have gone for the CVS as my brain likes full reassurance.
Waiting on a call back from fetal medicine centre to just go over things again.
Then guess it’s just waiting until April for the anomaly scan and seeing if anything flags up!
Who knew life long angst starts this early rather than when they’re born! Horrid

Xx