Amniocentesis scaremongering/shaming

[SarahD19]

Hello I’ve noticed a few threads on here where people are put off having invasive tests such as amniocentesis or CVS and told to have NIPT.

NIPT is a great screening tool, but it is just that. It has severe limitations that many seem blissfully unaware of (practitioners included). Mainly it has only reasonable accuracy in terms of positively predicting Downs Syndrome (around 80% PPV) - and is extremely inaccurate in terms of detecting any other trisomy in terms of PPV. It is based on Cell Free DNA found in the mother’s blood - which inevitably means some guess work and a level of inaccuracy you would not get as often with invasive tests.

Amniocentesis and CVS also have their limitations. However they actually analyse amniocytes and placental tissue directly, which means more accuracy. Plus an ability to analyse for a whole host of conditions NIPT cannot.

Factor in that miscarriage risk cited much of the time is based on dated literature and technology - the risks seem wildly overstated. obgyn.onlinelibrary.wiley.com/doi/10.1002/uog.20353

It is personal preference what people feel comfortable with, I just felt it was important to say that judging parents to be and guilt -tripping, especially based on misinformation, is unhelpful. No test is perfect, each has there own place in different contexts and for different people.

Rant over!

[MrsSharpie]

I actually had to fight for my right to not have the NIPT. For my husband and I the outcome would not have had any bearing and as I grew up with family members having special needs as well as friends siblings etc we know the difficulties as well as the joy people with special needs bring to a family... However since I was 10 weeks I have had every single midwife, sonographer and consultant ask me for a reason why we did not want the test and yet again try and talk me into having it. This is a test that in my home country is not common practice but also I feel those with special needs are treated better and there are more resources available than in the UK. I genuinely know a person who said that my aunt (who has special needs but lives on her own with additional support to buy groceries and bits) would have been "better off if she had not been born" I understand that everyone's circumstances are different and these decisions are need to be the parents choice but I also think that the UK's societal opinion on those with special needs is absolutely appalling and the fact that these tests are basically forced on new parents is disgusting as well. I was adamant I wasn't having this test but someone who wouldn't be as stubborn as I would definitely have been talked into it.

[Hoowhoowho]

@SarahD19 I think you perhaps miss the point that I have been there, I’ve had the trisomy 18 diagnosis (thankfully in pregnancy but delayed until 23 weeks). I’ve done the fights with the hospitals, the barristers, the ethics committees, the living with the limbo of stillbirth for months. I’ve been refused the oxygen and resuscitated my own child. I’ve lived the utter negligence of NHS care for babies with trisomy 18 and spoken at conferences about it. I have the PTSD to show for it.

I still think for me prenatal diagnosis’ is a good thing and I’d urge any parent to consider the benefits. There’s this idea that ‘I wouldn’t have prenatal testing because I would t terminate’ but how then do you use the T18 growth charts for your pregnancy ultrasounds, how do you know to go for daily NSTs and perhaps with recent research to insist on a c-section.
How quickly will y ok find a supportive barrister when they make the decision to withdraw treatment from your newborn? How will you access the opinions of the very few trisomy friendly cardiologists when your baby needs emergency heart surgery on the day the diagnosis is confirmed (remember you can’t decline postnatal diagnosis) and it goes on.

If you want to maximise your baby’s chances of survival then prenatal diagnosis has some major advantages and NIPT can give you the chance to get all that in place without the miscarriage risk of amnio. If it turns out to be a false positive then wonderful.

Therefore NIPT has its place. It depends what the parents would want. If they want a full active treatment plan then it may be helpful. If they want to terminate they shouldn’t rely on a NIPT result. If they want to let nature take its course, perhaps avoiding prenatal testing entirely would be the best option.

What is needed is informed and open discussion and counselling but that is very difficult to provide but I do think parents considering early NIPT should be asked why. I suspect you’d find the vast majority of those parents would terminate for a trisomy diagnosis of any of the three major trisomies though of course they may change their minds.
The handful who want to be ‘prepared’ should be questioned as to what that means to them and as to whether a very early NIPT result would support them in that or not. I didn’t get a diagnosis until 23 weeks, in some ways I’d have liked more time to prepare because it really was a full time job but in other ways I wonder whether I’d have felt able to do that much before 20 weeks anyway with such a high miscarriage risk.

[SarahD19]

@MrsSharpie I completely agree there is a great pressure to take the NIPT test now for many people to the point it can feel like you’re going against a tide if not - as you describe. I also agree there will be a cultural element. But also lack of understanding that prenatal diagnostics are actually quite long winded in many instances, as well as limited in terms of predicting prognosis. There is a lot of misinformation out there certainly...

@Hoowhoowho really sorry you’ve had that experience. I was unaware that this was your experience. However it does not change my point, if anything it adds weight to my pov that everyone’s experience is so different. As you’ve said, you cannot know how you’d feel if you had an NIPT earlier in pregnancy- you question how the anxiety of miscarriage and lack of control before 20 weeks might have impacted. And as we have both acknowledged, in many instances we need to get to 20 weeks for an anomaly scan - even then there may not be sufficient information to make a clear prognosis.

NIPT predictive value for Edwards is really poor (63% false positives), and often issues are not evident in ultrasound when NIPT is taken. So for the vast majority where NIPT flagged Trisomy 18 in the general population, this would elevate anxiety, often with little basis. If soft markers became apparent and were of concern, then this is a different situation - however major structural defects earlier in pregnancy would raise concern likely regardless of NIPT (not to say it couldn’t inform a picture).

As PP said, there is a real pressure to take NIPT and it’s prevalence is far greater than amniocentesis in that respect. As such, these concerns far supersede the context of amniocentesis. As we have both highlighted, adequate support and counselling should be embedded. Many people on these forums who take NIPT think I am exaggerating when I say prenatal diagnosis/investigations can take months.

[Hoowhoowho]

@SarahD19 I would agree, we’re broadly on the same page with that parents could do with more information before prenatal testing. I think NIPT has just become something you do, in the same way nuchal screening was without often any wider consideration of what you plan to do with the results.

As I said I did choose NIPT with my youngest although only at about 12 weeks. Infact we did two separate NIPT tests as part of clinical trials. I knew if she had trisomy 18 I would want to know. Excellent pregnancy management is the key to survival in T18 and then there is the need for post birth treatment planning. We were lucky my daughter’s anomalies were picked up at all. It was only because we happened to be seeing an excellent fetal medicine specialist. She had no classic soft markers and even the fetal medicine specialist did not think she had T18 prior to amnio results.

I know having read many of your posts before you feel very strongly about NIPT and communicating the high risk of false positives. I believe you may have had a difficult experience yourself too? I really do think you’d like the Tentative pregnancy, it was written at a time when amnio was the standard of care for ‘high risk’ women and seen very like NIPT is now. It very much focuses on the psychological impact of testing.

[Hoowhoowho]

I should also highlight that previous posters who felt they had been pushed into NIPT felt that they didn’t want it because they would happily raise a child with special needs.

My view is very much that if you truly want to raise a child with special needs you will of course want prenatal testing of some sort as it enables the pregnancy care that minimises stillbirth risk and the post birth care planning for children with T18 or 13 who otherwise quite frankly would be left to die. This is also essential information for families considering their options. Do you just want nature to take its course or do you actively want to preserve the life of your child with special needs?

[SarahD19]

@Hoowhoowho I have strong feelings about prenatal testing in general and the lack of understanding across the board, not just NIPT. However as for the reasons outlined by everyone in this thread, the issues raised are most relevant to NIPT as its uptake is far greater. As you have said it is the “done thing”.

I agree with the points you raised. However I also see pretty regularly on these posts women saying to get NIPT for pretty much any reason going. Typically a woman can say “I’m really anxious about pregnancy and things going wrong” and people saying to take NIPT at 9-10 weeks as it is really reassuring. They’ll talk about having a stressful few days, then everything is amazing as you get told you have a healthy pregnancy. When I have asked on some threads how a person would feel about being told they had a positive result for trisomy 13 or 18 - and would likely face at least a couple of months of testing, even told their baby may not survive, I have been told I am lying about this being possible. I remember explaining whilst 8 months pregnant, I was still facing monitoring and testing and uncertain about my baby’s health - following tests I’d had since 12 weeks. I basically got some very nasty messages on here calling me a liar and was accused of being dramatic and uninformed...

I am already familiar with The Tentative Pregnancy, but thank you for suggesting this again. It is a good read. And yes I have had an experience that has caused me to reflect on these tests and my own views around them. I am quite open about my experiences in my posts. As I have stated though, my experience and views are my own and nobody else’s.

As I have said to you and in this thread from the start, I am not against any particular test. They all have their own place. I just think we have to respect everyone’s journey is different and not judge. I have seen NIPT used well and I’ve seen it not used well. I’ve also known people want amniocentesis but been left feeling tormented about the miscarriage risk. I started this thread to start open dialogue and discussion where people can feel confident and supported in their choices - whatever it might be.

[Hopefulmum81]

We are on this journey right now. Had the vision nipt which came back high 95% or higher for trisomy 18. Unfortunately that fell on 13w+6 when I got the results. I’ve had to wait a week and 3 days for amneo which I have now had and am waiting for the results. I’ve tried to be really positive but I'm slowly breaking. I can feel the baby, I have 2 other very excited kids and all I can do is sit cuddling my belly and praying.
We had to have nipt as the baby was in the wrong position twice, it then at the nipt scan measured 2.7 so fine. Physical scan at amneo no issues they could see.
Praying it’s wrong and it’s been a lot of tears and worry over nothing xx