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Standard Resolution CVS tests wont necessarily detect absolutely every chromosonal defect.

55 replies

Merlot · 23/06/2005 22:12

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

OP posts:
yoyo · 24/06/2005 14:37

Fio2 - I don't know your history so please don't think I am being ignorant. Do you know your sister's mutation? I only ask as I have not encountered anyone with a similar situation to us.

Fio2 · 24/06/2005 14:39

yes I know the mutation, dont ask me what it is though, i have the records in a cupboard somewhere which i had to carry around in my blumin pregnancy notes forever i will find it though, if you want me to but it may take a while!

Fio2 · 24/06/2005 14:41

and tamum, I have told even the genetics people about this paed at the hospital and they all thought it was hilarious.....have given them some gossip to giggle about

yoyo · 24/06/2005 14:45

No, I just wondered if you knew it. Even my GPs remembered delta F 508 by the time my children were born.

suedonim · 24/06/2005 17:30

Merlot, I'm really sorry you've had such an awful experience. I'm also very, very surprised. I had an amnio nearly 10yrs ago where it was made very clear that an amnio would only detect certain, specific syndromes and that there were lots of other syndromes for which they had yet to unravel the genetic puzzle. At no point was I led to believe that an amnio was a 100% guarantee of no problems.

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