2 soft markers for Down's Syndrome found at 19.5 week anatomy scan

ahundich · January 2017

Our OB found an echogenic intracardiac focus (small white dot on the heart) and mildly enlarged kidneys (5.5 and 5.7) at our anatomy scan on Wednesday. We opted out of all genetic testing in the first trimester because we are so low risk (no family history, both under 30) and because of the false positive results that can happen. We are still very low risk and my doctor does not seem concerned because of the rest of the development was perfect, but we have an appointment for a detailed ultrasound on 1/27 and with a genetics counselor/possible amnio on 1/30.

Has anyone had 2 soft markers for Down's Syndrome and their child was not born with Down's? Specifically these 2 markers? Apparently the EIF is up to 30% more common in Asian pregnancies (which I fall in that category), and the kidney issue can be more common in boys (however we do not know the sex of our baby as we did not want to find out). I'd appreciate some positive stories!

ashleyl31 · January 2017

We had one kidney that was slightly enlarged, and something noticed on the heart as well. We are having a boy. My doctor didn't seem concerned, but wanted us to get the quad screening done. I don't have the results yet but should soon. I am 29 and DH is 33. We have a son already that didn't have any of these things. I am concerned with the things they noticed, but don't know about any further testing yet. I guess we will see about our quad screen results. If they are not all low risk, I will be talking to my doctor (or whoever I see next) about some further testing or ultrasounds. I don't have any advice though. It is stressful for sure.

Elyse1384 · January 2017

@ahundich I'm so sorry you're dealing with that added stress and I hope you get answers at your follow-up. I do know women who have had a soft markers and the baby did not wind up having Down Syndrome.

That said if I can get on my soap box for a moment. I highly encourage that so long as cost is not an issue, NIPTs and NT scans be leveraged early on in the pregnancy to test for possible chromosomal abnormalities if that is an important insight for you to have before delivery. I hear so many women say things like "we're young" or "we don't have family history". There is no family history until there is. Age reduces odds, but doesn't eliminate them.

ahardas · January 2017

I'll be praying for you. Keep me posted on what your outcome is, since it seems our situations are similar. I am hoping that when I go in for my detailed scan, these 2 things don't show up...but I know that is wishful thinking.

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2 soft markers for Down's Syndrome found at 19.5 week anatomy scan

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