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!)

I agree it has a place but should not be replaced by cvs or amnio. When I had my first child it wasn't around (that I was aware of, people I know only started talking about and having it around 4 years ago). Anyway combined screening for first child came back low but anomaly scan showed some issues. I didn't want the amnio as I wanted to carry on with the pg anyway so wouldn't risk a miscarriage. I think for me that's when I would of used the NIPT, to sort of back up the low result from the combined screening (just bloods as was before they measured the neck fluid too). I have to say that I agree with a pp in that the genetic counselling we received was a joke, in fact DH didn't even realise that's what we'd had. Sorry you are going through this but in my experience fetal medicine team are amazing people.

That's exactly how I used it @lolllypop

I had a low risk 12 week, baby was small but otherwise no markers at 20 week scan. Lots of tests run, all clear which left amnio which we didn't want due to miscarriage risk and we would terminate anyway. That's when we went to NIPT, however our consultant had all the info and gave it all to us. We knew all about the limitations before the test and then was backed up after a high risk came back

@PrayingandHoping agreed that a consultant SHOULD do that and would - WHEN that Good practice is occurring I don’t take issue. However that assumes that good practice is routinely occurring. Unfortunately that is not embedded currently - as evidenced by a number of comments across Mumsnet. Alongside a number of harrowing accounts I have heard elsewhere.

@lolllypop. Completely agree with you. This is what I mean in all my comments where I say it is useful in assessing and managing risk where there is context.

It is a worry because whilst I think it can be an aid to reduce invasive testing where there is a concern, some people see those tests as equivalent in terms of evidence and diagnostics. In fact too many people do. And what is crazy is how this occurs also alongside miscarriage risk of amniocentesis etc being very much overblown.

Of course but remember without doing a nationwide survey no one knows in reality what people are being told

It's often people who don't have good service on things who go on social media. People don't generally make posts to say how great things have been! It's taken me to feel I need to stand up for the process to share what I have been though. I haven't written about it before because I haven't wanted to and haven't needed to.

@PrayingandHoping I would actually challenge that thought process. I have actually found most people who have had these negative experiences feel shamed and don’t speak out - particularly if they have terminated due to misinformation and been made to feel at fault due to “not researching properly” - which I hate to say, has been a common theme when I have spoken out against these pitfalls. They have trusted medical professionals completely and been left highly traumatised.

It is only through support forums for people who have fallen in the occurrences I have become aware it often seems to be the norm and not the exception... By definition, those who fall on the unfortunate side of diagnostics are in a minority to begin with by how probability works. That is not to say I am in any way trying to underestimate that a high risk NHS result or ultrasound anomaly may not elevate anxiety prior to a “low risk” NIPT. But you also have to understand, the people I am describing are in limbo for months on end or have lost their babies due to these processes. It is only luck that separates a “high risk” from a “low risk” result.

Low risk results are, by definition, more prevalent. And likewise, NIPT has enormous funds and promotion on its side to reinforce a positive narrative. So whilst I appreciate your intentions are good, you already have the tide in your direction in terms of what you are advocating for.

You don't think I understand people who are in limbo??

I absolutely understand it

It is a known fact online people are quicker to share negative experiences than positive

I am in full agreement that people MUST be told the full facts about the tests.

@PrayingandHoping yes people do speak out about negative experiences where it is socially acceptable and normalised to do so.

In the face of pregnancy trauma and infant loss, there is often a shroud of silence. Additionally, as people so readily promote NIPT and recommend it as it is common to have a “low risk” result, people will shy away from speaking out. Particularly when highlighting pitfalls makes a person a target of commenters accusing them of “negativity” or basically being stupid.

I was fortunate enough to be informed and able to research things for myself throughout my challenges. And I have to say, my experience is that I am in a minority and have had quite a lot of stick for speaking out when I see misinformation about NIPT. This is one of the reasons why I started this thread.

Hi all; I am 42 and 5 weeks pregnant ; it's really important for me to check the baby is healthy but I read about NIPT and can't decide wether I should go for it in addition to any test that nhs will offer me (not sure what nhs offers me?)

What would you do? NIPT at week 10 then followed by NHS tests in week 12-15?
Thanks

I would wait later than 10 weeks if u want to do an NIPT. There is a chance u won't have enough fetal dna in your blood and then have to repeat it.

Remember that none of these are diagnostic, they only give u a risk.

I would also try and decide before you have the tests what you would if u get certain results if that makes any sense

Br aware....On the nhs test you age is going to bring the 1inX number down. You may still get into the "low risk" category but it may not she a high number.

I'm sure you've read this thread and realise even if u get a high risk NIPT there is a chance for false positives. So it's worth having a plan what u would do in that instance too.

That would be my advise as someone who had a low risk nhs and high risk NIPT

But as far as I am aware the nhs don't accept it as a diagnostic test and will perform their own tests... Cvs or amniocentesis. If in your case they didn't then there are clearly issues there that need rasing.

Hi @MamaNaz20. I think it completely depends on your reasons for wanting NIPT, your level of anxiety around potential high risk results and how well informed you are.

In terms of Downs, NHS screening may give you a higher risk based on age. Edwards and Pataus are much rare trisomies which are not significantly predicted by age, but other risk factors (in fact Pataus in particular has pretty much no association to maternal age and Edwards is also rare going into your 40s). However a positive/high for Edwards and Pataus can be extremely distressing as both are cited “incompatible with life”. Many people are unaware and only focussed on Downs risk, until they are faced with a potential catastrophic diagnosis.

Furthermore the false positive rates for Edwards for example is pushing 70% with NIPT - and although CVS can be performed, due to higher instances of mosaicism in these conditions, it is not unlikely you would have to wait for amniocentesis to get anything like a clear picture of a likelihood if the condition was in your baby. The minimum wait, if everything went as hoped in diagnostics would then take you to the 18-20 week mark, which would also be assessed alongside ultrasound anomaly scan - which greatly informs risk assessment. However it is not always viable to progress diagnostic tests due to foetal, maternal and placental presentations - and in my experience, you can book and Fetal Medicine will only attempt every 2 weeks if there is a difficulty.

In my own case, I faced a month of unprecedented delays for amniocentesis following CVS long term mosaicism results. I’ve also been having scans into my third trimester as even amniocentesis sometimes cannot draw robust conclusions. Hence if you got a “high risk“ result At 10 weeks, you would likely face an extremely distressing few months. Many are pretty oblivious to how complex and drawn out the screening/diagnostic processes can be.

I would be wary of any NIPT trying to promote testing of any trisomies beyond Downs to any real accuracy - or citing “99% accuracy” full stop - without clearly outlining the limitations of the test (I. e. This is NOT Positive Predictive Value which is what people assume it is). Downs is the only NIPT that can positively predict with more than 50% accuracy if a condition is likely to be present.

I cannot say I think any providers are especially “reputable” as I have heard negatives, not only about various providers, but how the processes are embedded within the NHS. Just as a PP said, make sure you are aware that no such test is diagnostic and be very aware that some professionals may misinform and misinterpret statistics. This is widespread imho.

Having outlined some limitations, I would understand that NIPT could be a useful Downs screening tool for you given you age as a risk factor. A “low risk” result is robust (unlike “high risk”), and can provide reassurance - particularly if you get a “high risk” NHS screening. I’d say just be mindful that you cannot know until you do the test, where your luck may fall and be emotionally prepared.

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.

And finally, good luck with your pregnancy xx

Wasn’t sure if my point regarding “high risk” based on maternal age was clear so have attached a chart/visual (attached). You can see that although with all Trisomies, risk may increase with maternal age, this risk is a far more significant predictor with Downs (Trisomy 21) - which is why age can often so heavily impact a “high risk” assessment for Downs.

Although this increase is also relevant to Edwards (Trisomy 18) and Patau (Trisomy 13), the higher end prevalence with maternal age may still only be 1:1000 for instance - which of itself, would not constitute “high risk”. On the other end of the spectrum, advanced maternal age (in the most extreme cases) may push risk to 1:10 for Downs which would most definitely constitute higher risk. This has many implications in terms of the clinical significance of screening tests. For instance, serum markers can very much sway positive screening for T13 and T18 conditions, which is a big part of the NHS Screening test.

Additionally where trisomies have a fatal prognosis, there is more likely to be missed miscarriage and vanishing twin syndrome etc. There is also a higher risk of confined placental mosaicism. All of this makes NIPT less reliable for said conditions - as these conditions will mean placental cell free DNA may show up as a positive marker, even if your current pregnancy is viable.

I’m not sure if this makes sense or if I am overcomplicating matters. I know I find the science helpful but it can sometimes confuse.

@SarahD19. I think you may have had a shitty experience with your hospital. In most nhs hospitals including the Trust in my area they will not accept nipt as diagnostic and will insist on diagnostic tests. Also the waiting time for cvs and amniocentesis is not what you have experienced. I had a scan at 12.5 weeks and was seen by fetal medicine two days later, the cvs came back 2 days later. I know for further chromosomal issues it can take longer as go into more depth etc. I'm not sure on the wait time for amniocentesis, but I would have thought it should be similar?!

@Rubyroost you have made an assumption as I am not referring solely to my experiences. I didn’t take NIPT, but was told by a number of health professionals it was basically equivalent to CVS and “99% accurate” even in respect to Edwards. This and worse is something that has been echoed by several people on this thread and in other contexts.

Additionally I highlight the following:

1. You only get a Rapid CVS results in 5 working days. A full culture generally takes a further 3 weeks from the procedure and only this will detail risks of mosaicism etc. Rapid results CANNOT do this. Many people like yourself (wrongly) think the rapid result is enough and this is where healthy pregnancies are terminated.

2. You can be waiting a week or so for an appointment after a request for CVS. Most places will not even offer the procedure until you are 11-12 weeks. For me I was exactly 14 weeks.

3. If the placenta or foetus is in a difficult position or there are obstetric issues, the procedure will not occur and will be rebooked for 2 weeks later. This is because complications and procedures occurring within two weeks of each other have limited efficacy and a host of risks.

4. If contamination occurs, this can delay test results by up to 3 weeks on top of the above.

5. Amniocentesis will often not be offered until 15 weeks (isn’t in my local trust). All of the above factors and days also apply to amniocentesis.

Hence everything I have written is factual. The absolute earliest for both procedures to occur and have full long-term cultures without delays would be the 18 week mark.

I actually did say that I knew that for. More complex chromosomal abnormalities it did take longer. But I still stand by my point the nhs will not accept nipt as diagnostic. They accept it the other way around when you've had nipt and gives low risk though.

@Rubyroost mosaicism can occur in all of the 3 main trisomies so is there some confusion?

I’m getting the sense you have not taken the time to read this thread given even health professionals have raised concerns regarding how the NIPT is interpreted and being utilised. People have, and do, continue to experience these issues. For you to just deny that fact is pretty disrespectful.

www.labs.gosh.nhs.uk/about-us/news/nipt

Here is a link from gosh to say they do not accept nipt as diagnostic, it is the same in other NHS hospitals. I have not commented on mosaicism, I have just said I understand that more complex chromosomal abnormalities do take longer. Mosaicism is included in that as it is much rarer as you well know. No where did I say how many it applies to. I can see why you're angry, because you have had to wait and that is extremely upsetting and frustrating, but at the same time, and I've a lot to say about the nhs, I do think the vast majority of trusts and NHS hospitals do this as quickly as possible for the mental and physical welfare of mothers

I don't think I'm being disrespectful at all and there's quite a few other posters on here who have felt the information they have been given has been good. In fact I can't see any evidence on the threadnof someone who was given a high risk on the nipt and then not offered a diagnostic test afterwards.. Because it doesn't happen. The whole point of the nipt is to counter the inaccuracy if the triple test without the woman having to undergo an invasive test and having a 1 in 200 chance of a miscarriage. You said yourself that false positives are much more common than false negatives. Any false positives would be dealt with by the nhs by offering a diagnostic test, false negatives wouldn't, but then they are very uncommon.

@Rubyroost my wait and own diagnostics are a separate issue from me having been told by multiple NHS professionals that NIPT would’ve told me to 99% accuracy if my baby had Edwards Syndrome. Likewise it is separate from people within the CQC thinking the test is diagnostic. Or consultants telling people who have a positive NIPT result for Downs etc that they’ve “never known” there to be false positives. This is a very real issue and multiple people on Mumsnet (and in other contexts) have shared similar experiences with me.

My “wait” is also within good practice guidelines in terms of the implications of mosaicism being explained within routine practice. That people should be aware of the significance of longer-term cultures and the impact on diagnostics - particularly where ultrasound abnormalities are not identified. The irony is not lost on me that someone who had CVS did not have this understanding, and is thereby demonstrating the very issues I am trying to tackle in respect to screening and diagnostics - whilst trying to deny these are real issues.

I am not disagreeing that is is clear in terms of good practice that NIPT alone (and even CVS where there is a normal ultrasound) should not be accepted as diagnostic. But the fact is these waters are very muddied. If professionals truly believe a tests is “99% accurate” and tell people this, it is merely semantics to suggest NIPT is not being interpreted as diagnostic. And as such, many will be making life-changing decisions based on misinformation. This is particularly pertinent when you consider many providers of NIPT and terminations are private providers.

I would have expected that anyone who gets a positive NIPT would go on to have a CVS or amnio to confirm. If people are not doing that because they believe the NIPT is infallible then that’s an issue yes. However (anecdotally) everyone I know who has had a NIPT has understood that they would need a CVS or amnio to confirm a positive result.

I think there should perhaps be more focus on the false view that CVS is absolutely diagnostic. As you know, it can be misleading (in either direction) in cases of mosaicism. I don’t think this is widely known at all however and certainly was not explained to me when I had a CVS.

Of course, none of these tests are any good for non genetic conditions, or indeed for many of the more subtle/unusual genetic conditions.

@minipie I know in my case that I only made the choice for CVS over NIPT from doing my own reading. I have been alarmed to discover since my own experience of screening and diagnostics how many people are misinformed. And many are the professionals themselves who are meant to be supporting people through these processes.

To me the misinformation around screening and diagnostic tests seems to be very widespread and are interrelated. For instance many on these forums have minimised (especially those with low risk screening) the anxiety that can be caused by early screening tests. They often comment “well I’d get an NIPT at 10 weeks and if there were concerns, I’d have CVS and get definite answers a week later”.

Yes some is naivety due to not having gone through the systems directly themselves, but what is reinforced on here is many people are impacted by systemic failings across health services - particularly where it relies on public and private sector and the intersection of where accountability falls.

I am glad some people have positive experiences. And no doubt, I have come across good practice which I have also praised. However if this is not holistic and widespread (as many of these comments evidence), this is most definitely an area for improvement.

I do have an understanding of how it works, in my case I did not need the longer wait as I had already decided to terminate based on scan and fetal medicine specialist advice. I am well aware that some people have to wait longer for more detailed results, but you have ignored this, there is no irony.

I state again that the nhs practice with nipts that come back high risk is to offer a diagnostic test, anecdotal evidence of consultants saying otherwise is not helpful. They may say that, but they still have to follow up with a diagnostic test. Again if a private provider says that a nipt is high risk and an individual requests an abortion through the nhs then the nhs will insist on a diagnostic test.