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FMR1 (Fragile X) Premutation Carriers

gotthemoxiegotthemoxie member
in Infertility
Recently my genetic results came back showing that I am a premutation carrier (74 repeats) for the FMR1 gene, which means I have a high risk for having a child with fragile x syndrome. This is also the likely cause of my premature ovarian insufficiency. 
I am awaiting genetic counselling to decide what to do next. The only reproductive option for me, ethically, would be IVF, as this would be the only way to screen embryos for the mutation. However, given that my FSH levels are very high, it is less likely that my ovaries will respond well to the medications used to stimulate ovulation for IVF. 
It is very difficult to consider how limited my options have become for parenthood. If you've dealt with this, would you share your experience? 
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Re: FMR1 (Fragile X) Premutation Carriers

  • embryomanembryoman member
    @gotthemoxie Sorry to hear about that. If you are set on using your eggs then you can do several rounds of IVF and bank your embryos before doing PGD to test for the mutation. A good way to go about this is to bank them on Day 3, then once you have sufficient embryos, to thaw them to Day 5 for possible biopsy. As an embryologist, I find this way is the least harmful to the embryos. Best of luck to you!
    I am Embryoman - your friendly neighborhood embryologist!
    **Removed for TOU violation**
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