Reply to chromosomal disorders other than T21, 13, & 18?

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[quote=Anonymous]I tried to ask my genetic counselor about the frequency of other disorders, since I agree with OP, this would be the main reason to do a CVS or amnio instead of screening in the absence of other concerns (except AMA).

My counselor actually did not know the answer to this question and had to look it up.  She came back a week later saying that among women 35+ the chances of finding detectable  chromosomal problem that is not a trisomy or missing sex chromosome was on order 1% with 0.7% being "clinically significant."    I think these include chromosomal truncations and translocations.  They can vary in severity but some potential problems include infertility and intellectual disability.

I decided based on this information to do a CVS, but honestly I wish I'd asked more.  And thought about it more.   Questions I had: how severe would such disabilities be?  Could they tell from the CVS results?  And for me, not them, had I found such a thing, what would I have done about it?

I don't know the answers to these questions.  I recommend you see a genetic counselor (hopefully better than mine was, I found her really hard to talk to about numbers, and I'm a statistician by profession so this was really annoying, but maybe an unfair standard of mine) and get the answers you want.  If you do, please report back.  Oh, and I hope everything goes well and this information is moot for you.[/quote]

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