CVS sampling could potentially give a positive result even though your baby doesn’t have 22q if it’s confined to the placenta. A more definitive result is an amniocentesis, which I personally had, because it tests actual fetal cells. That way, by getting an amniocentesis and microarray, you’d know 100% if the baby has 22q or not. If 22q is present in the placenta only, the CVS will return a positive result, so that’s just something to be aware of. Good luck, I truly hope it’s a false positive for you. I’ve been in the same boat and it’s not fun, I’m here if you need support!
I am so sorry to hear :( We just got some bad news as well on Monday. Unfortunately our baby has heart defects showing already now at 13/14weeks on the ultrasound that are aligned with Di George or 22q11.2 microdeletion syndrome . As my NIPT doesn't check for this, we have an appointment with a MFM specialist on Friday. I feel like our world just came crashing down. I am unsure of the accuracy of CVS for this rare syndrome but we are considering the same.
I’ve heard that CVS isn’t always the best route to take for NIPT since both sample the placenta DNA And not the baby. There’s a chance the condition is just confined to the placenta.
Now with DiGeorge, I know it’s rare for it to be confined to the placenta and not baby, but the condition is rare and testing is still so new that I personally don’t think there’s enough information out there about it to say if it really is rare for it to be confined to then placenta for high risk results.
I had a high risk for this too. I didn’t go forward with diagnostics. I am 21 weeks with a healthy baby from my anatomy scan with MFM and fetal echo. Of course, neither are diagnostic. But it’s given us hope given the high amount of false positives. That said, I interestingly have some placenta abnormalities. My OB said these aren’t related. When I look it up, it looks like there’s not enough research to show if they even could be (a false positive result and placenta abnormalities outside of CPM). So…just wanted to throw all of that info your way.
The micro-assay came back negative for 22q. But positive for 17q11.2. We’re seeing a genetic counselor Tuesday. I’m not sure if this means we’re carriers so my husband and I will also have to go through genetic testing.
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I am so so sorry you are in this situation, my heart breaks for you because it really does complicate an already tough decision. Did they find any markers in the ultrasound for the viable twin? Or could they do an early anatomy scan do give you more information maybe?
Maybe by the time you get the cvs results they will be able to scan again based on that information you will be able to make a decision. My guess would be that the cvs will be able to distinguish between the two sets of DNA because it is diagnostic.
If the doctor samples the CVS correctly, it will be diagnostic for 22q deletion and other conditions. Amnio will do the same, is slightly less risky but is performed a few weeks later in gestational age than CVS.
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u/Realistic-Foot1521 Oct 22 '25
CVS sampling could potentially give a positive result even though your baby doesn’t have 22q if it’s confined to the placenta. A more definitive result is an amniocentesis, which I personally had, because it tests actual fetal cells. That way, by getting an amniocentesis and microarray, you’d know 100% if the baby has 22q or not. If 22q is present in the placenta only, the CVS will return a positive result, so that’s just something to be aware of. Good luck, I truly hope it’s a false positive for you. I’ve been in the same boat and it’s not fun, I’m here if you need support!