my husband and I were so excited to find out the gender of our first baby yesterday at our 20w anatomy scan. The tech said everything looked great and when we got with our dr she said there was one "bright white spot" on the heart called an echogenic intracardiac focus that they sometimes worry about. She said this can be a marker for Down syndrome. We have previously had all the blood work done which came back normal, we have no risk factors (I'm 25, no family histories), and there were no other "markers" found on our scan. She said to not worry about it, but how can we not? Any other moms experience this before? My husband and I can't stop worrying. We were on cloud 9 after the scan with the tech then felt like we got hit with a load of bricks...
Re: EIF scare on anatomy scan
Did they say when they'd bring you back to check on it or what your options are?
My T & P are with you during this scary time.
From what I understand, an EIF alone is not a marker for chromosomal abnormalities. It is only considered a "soft" marker if there are other markers present.
The maternal fetal specialist told me that this isn't something that will come up after birth either. For instance, this isn't something you'd have to ever tell a pediatrician about. Do you have a follow up u/s?
My best advice is to listen to whatever your doctors are telling you and to get off Dr. Google!!! Don't let this small bump in the road steal the joy you have from your precious LO!! Focus on the good, happy, and exciting parts. Praying for you!
ETA 1 in 800 depends on your age and some other factors, that's not necessarily 100% accurate but it will be something along those lines assuming you're late 20s/early 30s.
Completely forgot he had an EIF until I saw this post.
My second son does have mitochondrial disease. I couldn't love him more. You'll worry about a million things that can happen, but most won't, so try to focus on the positive. I'm now pregnant with twin girls and have been telling myself the same over and over! It's hard as a momma!
I've had friends who had the same scare and all their kids are perfectly healthy. Their genetic screenings also came back negative.
If you're worried, get genetic screening done to rule out chromosomal abnormalities.
It definitely makes me not worried at all knowing it's all negative,