Genetic testing done and baby is at risk for sma??

Question

Anyone have genetic testing done and told there child is at risk for something?

Answer

I did genetic screening (first trimester screening/quad test) and was at risk (1:8) for downs syndrome. Unfortunately, my screening was right and we lost Bub at 17 weeks as the T21 caused a heart defect which caused hydrops. We had confirmed the diagnosis with an amnio, but because of the heart, lung, and brain issues, we knew that they would be right.
I would suggest asking about NIPT testing, CVS and Amnio. I would get confirmation of this. Then you will have the information you need to make whatever decisions are necessary and prepare yourself.
I hope your screening was wrong and that your little one is healthy.

Answer

May I ask...once the baby developed hydrops in utero was there anything doctors could do to try to improve the outcome? I ask because our daughter died 28 hours after she was born at 33 weeks. She had trisomy 21 and was born with hydrops and heart and gut issues. I've spent the last 2 years anguishing over if we'd only known she was sick. (We didn't have any testing so we didn't even know she had trisomy 21 until she was born.)

Answer

I wish I skipped it. Now I'm worried and stressed.

Answer

I skipped genetic testing and it's got me worried now😢

Genetic testing done and baby is at risk for sma??

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