Anyone else screen positive for Trisomy 18?

pamelainswo · December 2009

I just got the results of my prenatal screening - I have an elevated risk (1 in 120) of baby having Trisomy 18. I'm trying to think positive (that baby has a 119 in 120 chance of NOT having Trisomy 18), but this is such a blow.

We have our big u/s scheduled for next Thursday - but this can't really tell us if the baby has Trisomy 18 or not. If all the organs (especially the heart) and head seem to be well formed, it will be more evidence that baby is okay, but the only way to know for sure is an amnio.

We aren't sure if we want to take the risks associated with an amnio. DH is pretty sure that he could not terminate even if he found out the baby did have Trisomy 18, so I'm not sure if there is any point to taking the risk associated with the amnio.

MWoodside · December 2009

Are you too far along for CVS?

MTClaire · December 2009

We are sort of in a similar situation. We had our big u/s Monday, and they found choroid plexus cysts in our little girl, which is linked to trisomy 18. They said they didn't see any other indicators in the u/s, so they don't think it's a big deal, but we're going to see a perinatologist for a level II on Tuesday. I know what you mean - you try to stay positive, but it's so hard. We declined all other screening, so all I have to go on so far is the cysts they found. Supposedly if the rest of her is perfect aside from the cysts, there is only like a 1/300 chance of her having trisomy 18. We're just praying everything works out. We are not going to go with the amnio because it's too risky, and there really isn't anything we could do if we did find out she has it. I will keep you guys in my prayers, though!

lnyost · December 2009

My experience is different. Our NT scan came back high at a 3.55 mm nuchal fold. They told us that he could have trisomy and all of the other possible chromosome abnormalities. We did a CVS test and everything came back perfect. We then had to fetal echo's done on LO's heart and the heart is perfect. Most of the time everything is fine. And yes, 119 out of 120 babies in your situation are totally ok. I hope this helps. We wouldn't abort if he did have a problem, but we wanted to know and to prepare. I wasn't worried about the CVS, my doctor does them all of the time and the risk was so small, I trusted him. I know it's hard not to worry, but seriously, the odds are still on your side. GL and *hugs*, everything will be ok.

pamelainswo · December 2009

I'm 18 weeks, so I think I am too far along for the CVS

lnyost · December 2009

the amnio is actually safer than the CVS. The amnio carries a 1% chance, a 2% chance with a CVS. It's totally a personal choice, but people have such a negative associate with an amnio, but I think those people didn't actually sit down with a genetics counselor and go over the stats. I'm sure everything is fine, my T&P are with you. Please keep us updated.

Big J · December 2009

Yes, our test came back screen pos. for Tri-18. 1 in 27 risk. We opted out of having an amnio, my "peace of mind" wasn't worth the risk. We immediately had an u/s and fetal echocardiogram. Her heart looked healthy. She didn't open her hands all the way (which is a sign of genetic defect) so we went back a few weeks later and she showed us wide open hands. We've had 3 more u/s and will continue to check her growth to the very end but there are absolutely no signs of anything else than a healthy baby.

Try to stay calm and follow through will all tests they offer. Most likely, everything will be fine. I will not know 100% until delivery if my baby will survive, but I have a strong intuition she is healthy.

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Anyone else screen positive for Trisomy 18?

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