mjade
Registered: 08/24/09
Posts: 6
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Reply with quote | #1 |
Hey Everyone,
I am 15 weeks pregnant and just found out that I have a premutation for FX and I have 71 cgg repeats. I am waiting to get my parents results today and I am getting an amnio next week to see if my baby has a full mutation. I met with 2 genetic counselors and they told me my baby has a 15% chance of having a full mutation. I know the odds are in my favor, but I am still very worried. Is there anyone else that has 71 cgg repeats or around that number and didn't have a child with a full mutation? I would really appreciate your responses.
Thanks!
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car1130
Registered: 08/29/09
Posts: 5
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Reply with quote | #2 |
hello! i have a repeat of 74. i have a daughter with a full mutation and am 30 weeks pregnant with a non affected female. |
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HS
Registered: 09/22/09
Posts: 1
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Reply with quote | #3 |
Hi all~ I am new to this website and Fragile X! What an emotional roller coaster it has been. I am 13 weeks pregnant, and found out in week 8 that I was a pre-mutation carrier for Fragile X, with a repeat # of 87. I had a 50% chance of passing on the full mutation to my baby. I did a CVS test at week 11, and got the results yesterday. My baby's # is 170, so I thought I was in the clear for the child having the syndrome. Now my doctor and genetic counselor suggest that I get an amnio at 16 weeks to rule out any mosaic activity (when some cells are premutation and other cells are full mutation). I feel like this never ends! I can't find any stats to see what the chances are of a baby with a premutation of 170 actually has characteristics of the syndrome.
Anyone have any thoughts??? |
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OntarioGal
Registered: 03/18/09
Posts: 8
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Reply with quote | #4 |
During the CVS, did you find out the sex of the baby? I think the answer will depend a lot on whether you're expecting a boy or girl. Some girls have 200 repeats and no symtoms. But a boy usually has much greater difficulty, due to only one x chromosome.
{{{HUGS}}
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