Repeating NIPT instead of amnio? Help

[Cocomandarin]

Long story short
10 weeks - clear nipt test
16 weeks - issue with kidney (hydrophenosis)
week 21 - possible heart condition (vsd)
fetal medicine suggesting amniocentesis due to DS soft markers and due to the leaflet ive been given saying 1-400 chance of miscarriage I don’t want it. I seem to always be the unfortunate one in chances.

I’ve decided to repeat the nipt test as the likelihood of it being a false negative is 1 in 110000.

would like to know what people think of my decision or if anyone’s experienced similar. This ivf journey and now pregnancy is killing me off

If the scans are just showing soft markers and not hugely severe (as far as they can tell) then would a positive amniocentesis mean that you ended the pregnancy? If yes I would probably repeat the nipt and then if there's concern at that point I'd do the amnio. If not then I'd do the nipt again and leave it there.

So sorry you’re in this position. If I was you I would be considering that if it’s not DS, what an amnio might show up that NIPT wouldn’t, and how I would feel about continuing/ ending pregnancy if there was another condition causing the kidney/ possible heart issues. Really recommend reaching out to ARC if you haven’t already.

Have a good talk with your team - repeating the NiPT is unlikely to be helpful at all (as in - it won’t give you information you don’t already have from your first NIPT, unless your first NiPt was particularly poor quality/not reputable lab).
Have they told you what sort of VSD it is? (or if that’s been confirmed?? Not clear from your post). Depending on location of the VSD it may carry higher or lower risk of associated genetic/chromosomal difference.
it’s all about balance of risks - the chance of Down syndrome, with a low risk NIPT, will be <0.1% (that’s based on NIPT detection rates being about 99.9% now). However, there is a chance there could be something else going on that would not be picked up on NIPT, such as smaller pieces of chromosome missing or doubled up, or single gene differences. Perhaps ask your team again whether they can give you an estimate of what that chance would be? Based on your post it seems like it would be pretty low. In general, muscular VSD on its own doesn’t have a higher chance of genetic difference; hydronephrosis on its own also doesn’t have a higher chance of genetic difference; both of these two things are pretty common in otherwise normal babies and so it may well just be coincidence; but seeing two things together will always make fetal med think about extra testing just in case.

after that just allow yourself the time to think it through, balance up whatever overall chances they’ve estimated for you, with the amnio risk, and with what you might do with an abnormal result. Everyone is different with these decisions.

best of luck.

Would you consider paying to visit the foetal medicine centre? The specialists there would probably have more time to talk through your options. They introduced NIPT into the U.K. and Prof Nicolaides who founded it helped to develop the nuchal fold test too. Wishing you good luck and strength whatever you decide.

@Fasterthan40 @intrepidgiraffe @Springadorable @TenThousandSpoons00

thanks for your replies.

As for what I would do if there was a diagnosis I have no idea, I literally cannot imagine either scenarios.

with the VSD, the only way it was picked up was by the colour Doppler showing a possible small cross over of blood, structurally the hear looks perfect. I haven’t had it confirmed by a second professional yet I have to wait until Friday. The whole thing has shocked me because nothing has been confirmed and they have been really serious about possible genetic issues. Then have said she might not have a vsd at all and be normal.

im going to have a second nipt today because I’m going out of my mind and cannot wait. If the nipt comes back with a different result I will then go for an amnio, that being if the consultant I see recommends it.

@Cocomandarin best of luck today. What a horrendous level of unknowns. Big hugs x

Hi all thought I would update incase anyone is in same boat in future.

the mfm consultant scanned baby’s heart today and didn’t detected anything wrong at all. Based on this she said this no longer means there are soft markers for a chromosomal disorder.

apparently ultrasounds/ colour dopplers often show up things that aren’t there so a second opinion is always best. And that sonographers are always more likely to report possible markers especially if there is already something in place such as kidney dilatation. The most stressful few days ever 😥

Oh that's such positive news! I hope you can enjoy the rest of your pregnancy now x