Ok so baby's NT was measuring 3.9 at 13+1 . We were automatically referred to fetal medicine as it was >3.5. My combined screening came back as high risk for Downs (1 in 134) so I was then offered NIPT. This came back low risk.
My original consultant indicated that he thought everything would be fine but he wanted to keep close eye as high NT could indicate heart defects, so wanted to check at the 20 week anomaly scan and also see the cardiologist. Amnio was briefly discussed but he indicated the risks associated with it were greater than the chances of finding out our baby had a chromosomal abnormality.
Fast forward to 20 weeks my original consultant was off sick so I saw someone else. He could see no problems at all when scanning the baby, all anatomy and structures appeared healthy.... The cardiologist also scanned me the same day and also found to obvious defects with the baby's heart. I thought this was good news but consultant mentioned amnio again, and stressed the NIPT only ruled out 3 main chromosomal abnormalities ... We haven't ruled out the possibility of any others . I was in shock as it was different to the conversation I had with original consultant and without my husband there I could think straight to ask many questions.
After long discussions with my husband we don't feel the risk of an amnio is worth it, we would likely continue with this pregnancy, especially as we are now 21 weeks. One question my consultant clarified for me was that two of the main defects that could potentially cause the baby to be very unwell and either not make it to the end of the pregnancy or for not long after birth have been ruled out.
What other conditions would a high NT indicate ?
Would screening be done (other than the usual newborn screening) after birth that is less risky and invasive to see if there were any chromosomal conditions ?
Sorry for long post but I can't stop thinking about the uncertainty and wanted to know if anyone had gone through anything similar, or have any advice ....