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Bops
My 3 wishes
Member since 12/07 13625 total posts
Name:
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Fragile X Carrier test....
Anyone take this and get a positive result (intermediate) ???
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Posted 5/3/10 3:04 PM  |
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lululu
LIF Adult
Member since 7/05 9511 total posts
Name:
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Re: Fragile X Carrier test....
My sister in law is a fragile x carrier. I think that she is the lowest level carrier but her sons will have a 5% chance of showing symptoms. Her daughters are less likely to show symptoms but will probably be carriers like she is. My husband is probably a carrier. I would like him to get tested just so we know if he can pass it on to our daughters, in the same way that his sister is a carrier.
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| Posted 5/3/10 3:21 PM |
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ibl530
LIF Toddler
Member since 10/08 425 total posts
Name:
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Re: Fragile X Carrier test....
I am a pre-mutation carrier. Actually, there is a 50/50 chance that you will pass on the bad X, and there is a chance, depending on how many repeat units there are, that expansion will occur while the X is passed on.
Generally depending on how "bad" the mutation is, will determine the severity of the son exhibiting symptoms. For a female, they won't likely show symptoms, but might in other ways (fertility is mostly affected, as is age of menopause onset).
If you have any questions, feel free to FM me.
We had a previous loss, and then did PGD/IVF to ensure we had a fragile x free baby. I now have an almost 9 month old little girl who is fragile x free.
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| Posted 5/3/10 4:07 PM |
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readts78
LIF Toddler
Member since 4/10 407 total posts
Name:
Tricia
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Re: Fragile X Carrier test....
I just got a positive intermediate result this morning!!!!
My RE told me that my kids would be fine but my grandkids would have a higher chance of having some sort of spectrum disorder b/c of fragile x.
He said we could do PGD testing but it would cost $6000.
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| Posted 5/4/10 10:08 AM |
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Bops
My 3 wishes
Member since 12/07 13625 total posts
Name:
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Re: Fragile X Carrier test....
Posted by readts78
I just got a positive intermediate result this morning!!!!
My RE told me that my kids would be fine but my grandkids would have a higher chance of having some sort of spectrum disorder b/c of fragile x.
He said we could do PGD testing but it would cost $6000.
My RE said this test was fairly new, so I have a feeling many more people will be getting results like this as well...technology is a blessing and a curse all in one breath 
My RE said that she felt no reason to do PGD ( we have frozen embryos) , but did refer us to a genetic counselor ...My # was 54 which interemdiate on my analysis is 45-54, so I am on the border of the next level which makes me nervous 
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| Posted 5/4/10 10:26 AM |
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readts78
LIF Toddler
Member since 4/10 407 total posts
Name:
Tricia
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Re: Fragile X Carrier test....
I tested 46. I'm not going to worry too much about this. I have enough trouble getting pregnant, and I can't focus on small possibilities of fragile x.
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| Posted 5/4/10 2:00 PM |
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ibl530
LIF Toddler
Member since 10/08 425 total posts
Name:
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Re: Fragile X Carrier test....
Posted by readts78
I tested 46. I'm not going to worry too much about this. I have enough trouble getting pregnant, and I can't focus on small possibilities of fragile x.
my cousin has a low number repeat, but had trouble getting pregnant. her RE said it was because of the fragile X. one way it affects women is through fertility. While i wouldn't worry about the number and it affecting your kids, i would be questioning whether it is the reason you can't get pregnant.
I have a might higher repeat unit and I didn't have trouble getting pregnant, but didn't respond well to the drugs. Just something to think about.
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| Posted 5/5/10 12:21 PM |
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Domino
Always My Miracle
Member since 9/05 9923 total posts
Name:
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Re: Fragile X Carrier test....
Posted by readts78
I just got a positive intermediate result this morning!!!!
My RE told me that my kids would be fine but my grandkids would have a higher chance of having some sort of spectrum disorder b/c of fragile x.
He said we could do PGD testing but it would cost $6000.
You can get it for less than that
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| Posted 5/6/10 7:03 AM |
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