2nd Trimester

Abnormal NIPT and now Ultrasound Findings

This is a bit of a whirlwind but I'm just looking for support and potentially peace of mind...

We did NIPT testing at around 14 weeks, came back female, and elevated risk for Turner's Syndrome/Monosomy X. Two ultrasounds at this point and everything looked fine, but we were referred to MFM for abnormal genetic testing. Anatomy screening at 18 weeks showed baby was on the smaller side but again, everything else looked fine and nothing indicative of Turner's so far. We opted not to have an amnio at the time since there was only an elevated risk, everything else looked fine so we'd just monitor.

Now at 22 weeks, had an ultrasound this morning to check growth and again doctor says baby is still measuring on the small side (12oz), as well as potential ambiguous genitalia (clitoromegaly) found. Doctor said this is not usually associated with Turner's, but could potentially be caused by other chromosomal/genetic issues.

I've been spiraling all day, the constant unknown the past couple of weeks has been super stressful. Has anyone else had similar findings on ultrasounds that turned out to be nothing or resolved itself? Or if not, what ended up being the cause if any? 

Re: Abnormal NIPT and now Ultrasound Findings

  • Ultrasounds aren’t perfect. Sometimes they can’t see everything because of the position the baby is in. And the size of the baby is really just an estimate. Your baby could still be born perfectly healthy. I wouldn’t worry unless your doctor is telling you to worry.
Sign In or Register to comment.
Choose Another Board
Search Boards
"
"