Oh my gosh - I hope I dont upset anyone with this post, because its really not my intention but Thomcat's post has rekindled some bad memories for me and I just feel that I need to post this:
Firstly, Thomcat I am so very thrilled that your little one has not got DS - it is truly great news and I am really pleased for you. Your baby, if born on the 22nd will be in good company as its my birthday!....and that of Noel Edomonds!!!
However, I do feel that there may be some people reading your recent posts who might be feeling that CVS is the absolutely definitive way of finding out whether there is anything at all genetically wrong with their baby and I just felt that I needed to tell people my own story.
My husband has a sister with learning difficulties and he himself has a balanced translocation (a chromosonal anomaly which means he is fine, but off spring might not be). When we found this out were advised to have a CVS test to determine whether our baby would be genetically ok. The CVS test was carried out by Prof N at Kings and came back fine and I was ecstatic.
Unfortunately when ds2 was born things were not ok - it was found that he only has one kidney and he has global developmental problems. As soon as this became apparent, my sons developmental paediatrician suggested genetic testing. I was absolutely gobsmaked - after all I had had a CVS test - how could it be anything genetic? Anyhow, it now appears that not every single genetic syndrome shows up under standard resolution testing
This was a huge blow to me - as I had really believed that ANYTHING genetic would show up with a CVS test.
Now, my little ds2 might not have a genetic disorder - it is quite possible - and the jury is still out (so to speak), but some of my problems coming to terms with things has been that I had had a CVS test done previously and therefore I had a false sense of security. In fact I was doing cartwheels that this baby was going to be so healthy!
Thomcat - I hope you understand why I am posting this, certainly not to upset you - actually I dont believe it will, because I think you are aware of what I'm saying already... and because testing for Downs and certain other syndromes is absolutely definitive with a CVS test. I just dont want people thinking....like I did....that absolutely bl**dy everything genetic shows up with a CVS test
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Standard Resolution CVS tests wont necessarily detect absolutely every chromosonal defect.
55 replies
Merlot · 23/06/2005 22:12
OP posts:
dinosaur ·
24/06/2005 11:50
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This has been withdrawn by MNHQ at the poster's request.
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