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Chromosome Translocation.

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#1 *edb*

Posted 10 July 2009 - 01:30 AM

Hi, I wasnt sure where to post this.. But I just had a couple of question for anybody that might be able to help me. I have a balanced chromosomal translocation t(2;21)(q14.1;q11.2) and during my last pregnancy it wasnt a problem.. I gave all the information I had (that my mum had from when she had me) to my GP when I found out i was pregnant and when I switched over to my OB he said he would get the information from my GP and I wouldnt need any other testing..

But I have just been looking through the information again (including letters specifically to my mother from a specialist - I have the same translocation from her) and I am reading things in the letter that are starting to worry me a bit because my OB never really brought it up again.. things like:

"This arrangement is not important to your own health but it is merely of importance when it comes to reproduction"

"There is a 1 in 4 chance that the pregnancy would have quite normal chromosomes. There is a 1 in 4 chance that the pregnancy will have both the rearranged chromosomes and therefore a normal total amount of genetic material and would be a normal person like yourself. There is a 1 in 4 chance  that the embryo would be lacking a large amount of genetic material and a 1 in 4 chance that the embryo would have extra genetic material."

"Your reproductive risk is high, and future pregnancies should be monitored"

My mum had a perfectly normal and easy pregnancy 1st time around (with my brother) and tehn had 3 miscarriages (10wks, 11wks and 14wks) and had testing, found out about the translocation and then fell pregnant with me, had alot of monitoring and drugs and a c section at 37weeks.

I am worried I am going to be going down the same path, but i am also wondering why if I have the exact same thing, and my OB knew about it, why didnt he perform the CVS and check the embryo? Why wasnt I considered 'high risk' and having extra monitoring? It isnt that I wanted these things (as if you would!) but.. I guess I'm just worried about when DF and I start TTC again.. which.. is now  unsure.gif

BTW - The paperwork I have is from 1986 - so 23 years ago.. but researching on the internet I dont think much has changed.. but I cant actually find specific information on chromosomes 2 and 21 being involved..

Maybe I'm just worrying to much. I need to go to bed.

#2 *Shandy*

Posted 10 July 2009 - 07:25 AM

HI, just saw your post, we have had chromosome issues as well. Why don't you make an appointment to see a genetics counsellor? I am sure they would be able to answer some of your questions. Take care, I know how frustrating it can be. sad.gif

#3 jemsoli

Posted 10 July 2009 - 07:56 AM

i posted a reply to the thread in the pregnancy questions section.

hope that helps...

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