Exomphalos and high NT at 12 weeks

[tinyelephants]

Hi all,

I went to my 12 week scan only to find out that my baby has a high NT measurement of 5.9mm. I was measure to be at 12weeks +1. They referred me to a Fetal Medical Unit for a second opinion in which they carried out another scan. In the space of a couple of days the scan showed that the NT increased to 7.3mm and showed that the baby had a large exomphalos with the stomach, bowel and liver. Due to this they couldn't see the right leg and are concerned about that. There was also fluid accumulation around the head and spine. Overall it was a poor prognosis and there's a high chance of chromosomal and structural abnormalities. I was offered termination, further diagnostics but I'm struggling with the concept of it all- risk of miscarriage and needles and ending a pregnancy. So I've decided to continue with further scans, with the hope that everything will be ok and let nature take its course.

I guess my question is has anyone else had a similar situation and what was the outcome?

Might be worth popping this on the antenatal tests section within pregnancy as it may be lost here. X

I’m sorry to hear about your scan.

Could you do a NIPT? Your midwife should be able to advise. It is a screening test, rather than diagnostic, but with a simple blood test (so no risk of miscarriage) should give you a view on Down’s, Edwards and Pataus. The only way to know for sure at this point (and if it’s something else) will be a CVS or amnio, I believe.

Thanks for the replies.