Cystic hygroma

[Missy38]

So long story short, baby had fluid behind the neck at 12 week scan but resolved by 14 week scan, I had a 1 in 15 chance of DS i then had the nipt test it came back low risk, so I was told as we had the hygroma behind baby neck there could still be other abnormalities, the cut off for this was 3.5 and mine was measuring 3.6 not a huge amount over I know but still risks, fast forward to 24 weeks now I've had multiple scans and checks and the heart all looks good and normal and what they can see from the spine but they say suboptimal view which I'm guessing not a clear image due to my weight or position of baby?? I turned down the amniocentesis as there's no markers on scans and they say all looks normal, but the consultant said I could still have a down syndrome baby as its not 100%, I know its a 3% chance I could but its all im thinking about and really worried whether I should risk the amniocentesis now 😕 but then it's the risk of miscarriage, baby weight, head and length are all in the middle percentile, I'm just wondering if anyone has been told anything similar and gone on to have a healthy baby? I just can't relax and enjoy this pregnancy at all this time 😔

Hi, sorry you’re going through this, it’s a really anxious time.
Couple of things that may help - in babies with NT 3.6-4.5mm, 70% of babies will be born alive and well, and I think you are very very likely to be in this group. Just over 20% will have chromosomal abnormalities (mostly Down syndrome) and around 10% may have heart or other structural abnormalities, or miscarry (prior to around 20 weeks). Your tests thus far are super reassuring - a normal NIPT result does not leave 3% risk of Down syndrome, it’s well under 1% (exact chance depends on your age). A major structural/heart abnormality would have been seen by now on your scans. The miscarriage risk time has passed. There remains a small possibility of another chromosomal abnormality that would not have been picked up by NIPT but overall low chance.
If you are feeling so anxious that you can’t enjoy your pregnancy and look forward to your baby, it’s worth considering an amnio still to put your mind at ease. You could chat to your consultant about this? It’s often an option to plan an amnio at 28-32 weeks or so if you just need that extra information. There is no longer a risk of it causing a miscarriage, instead it’s around 1/1000 risk of early delivery.
Hope that all helps a little and good luck.

Thank you for that, that is reassuring to know, I'm 38 which I know is a high risk and yeah scans show heart is all good and they didn't show any problems that they could see, I will have growth scans every month now they have said just to keep a check on things, it was just at the beginning at the 12 week scan the doctors were like ah we are really sorry and asking questions about what we should think about etc and if we should end the pregnancy without even really explaining to us what was what, and then when I seen the same consultant at 18 weeks, she was like ahhh everything worked out well then 🤯 just the way she said things.
I think I just need to try and relax and what will be will be now as I'm nearly 25 weeks