High risk edwards & pataus . Awaiting NIPT results

[anxiouslywaiting01]

Hi all,

I had my 12 week scan a few weeks ago, all looked fine, no issues were mentioned. Had combined screening tests same day. Got a phone call a week later to say low risk for downs, but high risk for edwards and pataus. 1 in 21.

I’m 33
NT measurement 1.3mm
papp a 0.23MOM
Not sure bHCG but was told ‘all hormones are off’
anxiously awaiting NIPT results.
anyone been in a similar situation?

My friend was told high possibility of edwards went for specialist scan was told no all fine. Was born with edwards, with all the issues they were told in first scan.

what issues were they told of at first scan, if you don’t mind me asking?

Just to update this thread incase it helps others in future, I have received low risk results for all 3 trisomy’s from the NIPT test! Midwife who called was really reassuring! Patiently awaiting my 20 week scan now

@anxiouslywaiting01 I’m so happy for you! I hope that the rest of your pregnancy is boring and uneventful! ❤️

I’m currently in the limbo period as well. Did you find anything that helped you through it?

Thank you. Honestly not really, it’s such an awful time! keep busy as much as possible! Hope you get good news soon ❤️

@anxiouslywaiting01 I was in the exact same position just over 3 years ago. Please be aware that accuracy of NIPT for Edwards and Pataus is nowhere near what is advertised. In your position, if you get a positive NIPT result, this could realistically be a false positive.

Everyone has different views and experiences, but my reflections after months of tests (including a positive result for Edwards from CVS), is I would wait for amniocentesis knowing what I know now.

Happy to be PM’d if it helps to talk.

Sorry just seen you got -ve NIPT. Hope all goes well throughout your pregnancy.

Thank you. I had a scan after the NIPT results & all looks good so hopefully the rest of this pregnancy is uneventful & boring! x

Congratulations. I’m currently in the same situation. 1 in 38 risk of Edwards and Patau’s with low PAPP-A (0.2) and low HCG (0.25). I had the NIPT yesterday, not really wanting to risk other tests and honestly, the wait is just horrendous.

@SJG1987 sorry to hear you’re going through this. When you say the risks of other tests, I am unsure if it is reassuring for you to know that up to date research is suggestive that when accounting for more up to date technology any the clinically higher risk groups undergoing invasive testing such as CVS and amniocentesis, the risks identified are actually negligible - and there is a strong case that clinicians should be more mindful of this within the work and resources updated to reflect this.

There is quite a bit of research to back this up including this https://obgyn.onlinelibrary.wiley.com/doi/10.1002/uog.20353

Also, without knowing your profile, there is a risk that NIPT may not provide the answers you are looking for. It is worth bearing in mind that it is only a screening and also has significant limitations. Realistically, with Trisomies 13 and 18, I would only go on amniocentesis results and would be less inclined to rely on NIPT or CVS knowing what I know now. However, that said, you may get a low risk result and feel reassured.

Happy to be PM’d or answer any questions based on my own knowledge and experiences.

Thanks for your wisdom. I understand it’s only a screening test, but I’m hoping if it comes back as low risk, with the extra scans I am being offered it will hopefully give the reassurance I need. Of course if it’s unreadable (likely with my hormone levels), or high risk then I would opt for an invasive test. I don’t. Know if I will feel reassured even if the test comes back as low risk, but it’s too late now as I’ve done it. They won’t offer me an invasive test if the NIPT is low risk.

@SJG1987 if you get a low risk NIPT then that is a positive outcome. It is just that the risk of “false positives”/high risk and misleading outcomes due to complications such as mosaicism and confined placental mosaicism and other conditions mean the NIPT is really not anywhere near as accurate in terms of positive predictive value as it is with say Down’s Syndrome. And many people are ill informed about the shortcomings of this test - and can fall on the wrong side of the statistics, ending up in a long, drawn out, often difficult process. Obviously a low risk NIPT would be a good outcome which I hope is what you get.

I knew it wasn’t 100% accurate, but I think mixed with scans maybe it’s a good option. Is there more false positives than negatives do you know?

Statistically speaking the data on “low risk” results amongst the general population is good - but without knowing your specific profile, I cannot give you further guidance. Sadly my experience is many clinicians are also unaware of the limitations.

What I can make you aware of is that amongst the general population, a “high risk” result may effectively be a “false positive” in almost 2/3 of instances with Edwards and 1/2 of cases with Pataus. The accuracy/positive predictive value in somewhat in some clinical groups.

However it is important to know that ultrasound data, as you know is significant in supporting findings. And a “positive” NIPT alone should not be relied upon as diagnostic. Even CVS can be unreliable due to mosaic results to some extent. Amniocentesis is the best test for these particular Trisomies imho. That is not to say NIPT does not have its place. But clinicians should be explaining all of this. Yet my personal experience is most clinicians simply don’t understand the data and tell you it is over 99% accurate.

Apologies meant to say in some clinical subgroups accuracy of NIPT can be higher than across the general population. I’m writing this in between work meetings and driving so the messages are a bit rushed sorry.

Thank you so much for your replies, I really do appreciate it.

@SJG1987 May I ask how things worked out for you in the end? I've found reading these threads so useful.
I've had a 1:2 for Edwards and Pataus:
I’m 40
NT measurement 1.7mm
papp a 0.23MOM
hcg 0.1 MOM
I've gone the same route as you - opted for the NIPT (couldn't bear another 3 weeks wait for Amnio) and they've said they'd try to bring the 20 week scan forward to 18 weeks for earlier reassurance....plus extra scans throughout. Obviously hoping for a low result, but I'm worried by the reliability of th NIPT for T13/18 as @SarahD19 has alluded to. None of the statistics say the same thing, but it's clear there is a high rate of false positives, but it doesn't seem so clear about the rates of false negatives.
I did ask if I could have an amnio even if I had a low risk result back from the NIPT becasue I'm as high risk as you can get at the moment but was firmly told the NHS pathway wouldn't allow it.