I'm looking for personal experience from anyone who has had this. Whether their baby did end up having Down Syndrome or not. The US showed the enlarged kidney and bright bowels. (I know there are technical terms for these things) So now I'm trying to arrange to have the blood work done that was suggested to me before we move across the country. And at this point, an amnio is out of the question under the time constraints. Any support or advise would be greatly appreciated. TIA
Re: Looking for support - 19 week US had Down Syndrome indicators
Our son does not have Ds but he does have a chromosomal abnormality which was not picked up by CVS. His brain malformation and dismorphic features via ultrasound (flat philtrum, broad nose bridge, odd tone in lower face) were also not picked up.
He did have a chorionic cyst that we were not told about. (I peeked in the envelope). According to my googling at the time, those cysts can be associated with a chromosomal error. But hey! We had a clean CVS! He had all his chromosomes and no trisomies. He was supposedly genetically healthy.
What I am trying to say is the basic testing for us didn't work. A CVS didn't work and neither would've an amnio. We were in the lucky 2-3% I guess.
If your dr is recommending one of the trisomy blood tests, then it will only find triplicates of 3 different chromosomes (13,18 & 21 I think) which should be only pairs. That is all the info you will get form those tests. Anything wrong with the other 20 pairs of chromosomes you will have to wait until birth to find out.
I wouldn't sweat this until you have to. The kidney was the only finding? The heart was good and the rest of baby looked ok?
Everything will be fine. Really.
Either way, you can do this.
I know how stressful it can be however, not knowing, especially with your move!
My 21 week US showed a "birthmark on DS's heart" as the doctor described it - seen in >50% of down syndrome babies but also seem in 3% of babies without the syndrome. We took our chances - no amnio and DS is healthy - no chromosomal issues.
What does your doctor suggest?
Thank you
Y
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I have a daughter with Down syndrome. I promise that my decision to have an amnio when I was pregnant with her was in no way related to my love for her.
I'd say depending on your odds it would be prudent to perhaps push for monitoring the pregnancy as though the baby does have some chromosomal abnormality to ensure that potential health problems are identified in a timely manner.
Best of luck with your pregnancy.
I agree. I had an amnio and it was in no way indicative of the love I felt and now feel for him.