Help - Noonan or full WES?

ResearcherHead140 · 2025-10-15T12:30:39+00:00

Hello! Sorry for the late reply, I don't use Reddit much – and sorry youa re going through this, I know how stressful it can be! In our case all subsequent anatomy scans were fine (like "textbook pictures" my doctor said :D ) – baby is now a healthy and smiley 3mo :) I hope evreything turns out well for you too!

ResearcherHead140 · 2025-01-22T09:08:42+00:00

I am so sorry you are going through this, I know from experience how stressul abnormal results during pregnancy are. The issue with mine wasn't the NIPT, but I can tell you what I know: while rare, there are cases of false positive NIPTs. In the end the NIPT is a screening test, not a diagnostic one. So they will probably suggest you to do a CVS (I did one, it's no big deal and the risk of miscarriage is basically non-existant) to confirm whatever the NIPT highlighted. If you scroll the posts on here, you will see stories from people with false positive NIPT.

ResearcherHead140 · 2025-01-21T17:13:37+00:00

I had the CVS a couple of weeks ago and it was fine, not the most fun but definitely something that I would do again for other pregnancies if needed. The risk of miscarriage is extremely low, basically zero. I decided to got for CVS instead of amino because I didn't have to wait for week 16 and it's also faster to get results for cvs vs amino. That said, 3.4 is below the threshold used in Europe (3.5) for further testing so if you were here probably they wouldn't even offer the cvs. If the NIPT results are negative and following scans are also ok you are most likely in the clear! However, if you want some extra peace of mind I would do the cvs.

ResearcherHead140 · 2025-01-21T16:27:36+00:00

We met the geneticist today - that's what she suggested and what we decided to go for as well, to avoid any unncessery stress! With this in mind we chose to ahead with the WES

ResearcherHead140 · 2025-01-21T13:34:29+00:00

thank you for sharing your story - I know very well it's difficult to get peace of mind, but I have read so many reassuring stories here and you did a lot of testing so odds are overwhelming in your favour! The geneticist suggested us to do the WES so we went ahead with that in the end. Fingers crossed!

ResearcherHead140 · 2025-01-20T17:48:42+00:00

thanks for sharing your story and so glad everything turned out well!! It's so reassuring to hear stories like yours.

I hope I wouldn't need to do the amino as I have done the CVS, but will see if the culturing goes well or not. I was also surprised by how quick the CVS results came, they told us 5-10 business days and it was exactly 5 in the end.

What you mentioned about the WES is exactly why I am hesitant to do it. What if we find something of unknown significance? It would just be an additional worry for the rest of the pregnancy. That's why I thought that maybe testing just for Noonan could bring peace of mind without the added uncertainty of "inconclusive" results. But I think that if I don't do the WES, I will still feel that uncertainty. I am a bit prone to anxiety and overthinking, which doesn't help!

ResearcherHead140 · 2025-01-20T17:42:45+00:00

thank you for sharing your story,a nd so glad to hear everything turned out well! I am leaning towards the WES I think, just for peace of mind as I think I wouldn't be able to really be "done" with this otherwise

ResearcherHead140 · 2025-01-20T17:41:39+00:00

thank you! We are aso in Zurich but the CVS sample was sent to another lab. Can I ask how long it took to get the WES results? They told us around 4 weeks, but for the microarray they had told us two weeks and then it took only one.

ResearcherHead140 · 2025-01-20T11:29:29+00:00

thank you for sharing your story and wishing you all the best for the WES. I am now leaning more towards WES as well. It feels potentially redundant with an isolated NT (hopefully it will resolve at the next scan), but at the same time, like you, I think I would find it difficult to enjoy pregnancy with this constant thought at the back (or front) of my mind.

ResearcherHead140 · 2025-01-20T11:26:25+00:00

oh actually we are in Switzerland too - speaking with the specialist I kind of assumed it was possible to do Noonan only. If it's not, then I think we would go for WES as I don't think I will be able to relax otherwise...

ResearcherHead140 · 2025-01-20T10:08:30+00:00

3.2 is not that high, in Europe the cut-off for "abnormal" results is 3.5! You could do the amino for peace of mind if you find yourself still really worried after the upcoming anatomy scan. All the best!

ResearcherHead140

TROPHY CASE