Low risk NIPT test, but potential soft markers

[LottieWat22]

Looking for reassurance, experiences … pregnancy anxiety is real 😫

12week scan and blood screen, showed elevated HCG of 6.38. This pushed me into a “higher risk” bracket for Down Syndrome. There were no soft markers on my scan ie. NT fine, nasal bone, normal etc

We opted for NIPT with combined veracity test (took a swab of hubby’s DNA too). This all came back “very low risk” with a good fetal fraction of 12.5% as well as finding out we would be having our rainbow baby girl 🎀
🌈 relief was everything!

Fast forward 20 week scan, and being VERY nervous, all was good. Growing, wriggly and well developed baby 😊 however, an Echogenic Focus was then found on her heart… and was proceeded to be told that this again is a soft marker for Down Syndrome but, in the same breath was told as my NIPT was negative, and was found in isolation I “shouldn’t worry” as could be a very common calcification of the heart that normally resolves itself… but of course that is easier said then done 😞 and were not recommended for a CVS or amniocentesis.

If any of you lovely ladies have had anything similar, I would love to know how it all turned out 🙏🏻

Bump

You could get a cvs or amnio for peace of mind. That will tell you clearly if it’s DS or other, less common, abnormally.

the chance are it is something that will resolve on it’s own, like they say, or maybe some heart issue, but as hey are not worried, I’d guess it’s something that can be managed easily.

if they didn’t recommend you for cvs or amnio, I wouldn’t do it either, unless you are very very stressed.

I think you just have to wait, very hard I know, and try to manage your stress in the meantime. Raised cortisol for months can’t be good for the baby. Sorry I don’t have better advice.

Hi! How are you making out? Currently going through the same thing. My HCG was 2.08 MoM but came back low risk in my screening. Also found an Echogenic focus at 20 weeks scan but MFM said everything looked great. Still not convinced and very nervous! 31 weeks now!💗

An echogenic foci on its own with no other soft markers at the anomaly scan is not usually a cause for concern and where I work, we would not advise an amino for this marker alone once all of the other checks at the 20 week anomaly have been normal. It’s of course natural to worry but if the MFM has been reassuring then I would also be reassured by that - the fact that your screening was low risk is good too

What was the outcome in the end? We are going through similar (raised hCG) which has pushed us in to high risk. Everything else looks normal

Hello,

So sorry for the late reply.

Baby girl was born, completely healthy albeit 2 weeks late .. after being told that a raised HCG could mean not making it to term. She was "small" considering she was 2 weeks late, she was 6lbs 5oz. But, she is currently meeting and exceeding milestones and have no health issues raised.

Hope this puts your mind at ease :)

Don't get me wrong even when she was born and for about 2-3weeks after I felt like I was waiting for some sort of diagnosis, but she is happy, healthy and incredibly strong!