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Clear CVS after high risk. Was your baby born with any other abnormalities?

1 reply

Swishyswashy · 27/10/2014 20:03

This happened to me- after a high risk of Downs Syndrome at a relatively young age, I had a CVS and got the all clear for the 3 main trisomies. All scans were clear although I continued to worry. My baby appeared healthy at birth but at 3 months it started to become clear he was not developing as he should and he does have a very serious genetic condition that would not have been picked up by routine tests. I always wonder whether the high risk (bloods, not nuchal) indicated our particular problem. Any others experienced similar? The medical line is that they are not necessarily linked.

OP posts:
minipie · 28/10/2014 12:23

Not the same experience, but I know what you mean.

I had high risk for all 3 trisomies (1:104 for Downs and 1:42 for Edwards/Patau), mainly due to bloods, then a clear CVS.

DD is 2 and is generally healthy (I don't think she has any chromosomal/genetic conditions - she had full genetic testing after she was born, it was all clear). However she was born prematurely at 34 weeks for no apparent reason and has one or two "oddities" - although hard to know if those are innate or due to prematurity.

I have sometimes wondered if the high risk results, together with first trimester bleeding and then prem birth, were an indication that my body was "not quite sure" whether the pregnancy should go ahead or not.

Very sorry to hear your son has a serious condition. Did you have the full karyotype after your CVS, or just the 3 trisomies? (I understand they won't usually do the full karyotype unless there is a reason to suspect a rarer condition).

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