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Fertility / Infertility (Expert Forum)
needed opinion
Questions in the Fertility/Infertility forum are answered by doctors affiliated with USF Health. Topics covered include fertility or infertility issues, egg quality, fertility drugs and side effects, fertility tests, genetic testing, in-vitro fertilization (IVF), ovulation, relationship issues, risk factors, sperm count/quality, and surgery.
needed opinion
by javajess, Apr 22, 2007 12:00AM
Doctor, I am 38 years old, been ttc for 2 years, I've had two m/c's early 6 and 8 weeks. I'm a carrier of the Fragile X gene, the number they gave me for Fragile X was 55, they said it was a "grey area", I am also a carrier of cystic fibrosis.
My DH checks out fine for all his tests.
My question is would you recommnend IVF with PGD?
My DH checks out fine for all his tests.
My question is would you recommnend IVF with PGD?
Doctor's Answer
by Forum-M.D.-SP, Apr 22, 2007 12:00AM
There are several pieces to this puzzle:
1) What is your day 3 FSH and/or other ovarian reserve testing?
2) Why was fragile X testing done - is your FSH increased, or is there a familiy history?
3) What infertility treatments have you tried to date, or have you had not problems getting pregnant - just staying pregnant.
There is an excellent article on this issue in the March 2007 issue of the journal Fertility and Sterility. According to this article, the smallest number of repeats known to expand to the full mutation and result in a child born with Fragile X is 59, and then the chance of having a child with fragile X is 50%. If you have more than If 'the number' they gave you refers to the number of CGG repeats in the DNA on you X-chromosome, then at a value of 55 your child should be safe from being born with Fragile X. Importantly, there are reports of men with an intermediate number of repeats developing tremors and other neurologic problems such as memory loss after age 50. Thus, now that you are known to have this 'intermediate' number (by the way, you just make it to the 'intermediate' classification at 55; at 54 you would be considered normal), I would strongly recommend that you see a genetics counsellor AND and REI - as a non-geneticist I think the risk of a mentally retarded child due to Fragile X is very low but you should get the full picture before deciding what to do. Remember that doing IVF at age 38 offers you approximatley 25% chance of getting pregnant every time you try, so that if you are not having troubles getting pregnant on your own, you will probably get pregnant easier on your own a third time.
I do not believe that the 55 repeats are the reason for your two miscarriages.
1) What is your day 3 FSH and/or other ovarian reserve testing?
2) Why was fragile X testing done - is your FSH increased, or is there a familiy history?
3) What infertility treatments have you tried to date, or have you had not problems getting pregnant - just staying pregnant.
There is an excellent article on this issue in the March 2007 issue of the journal Fertility and Sterility. According to this article, the smallest number of repeats known to expand to the full mutation and result in a child born with Fragile X is 59, and then the chance of having a child with fragile X is 50%. If you have more than If 'the number' they gave you refers to the number of CGG repeats in the DNA on you X-chromosome, then at a value of 55 your child should be safe from being born with Fragile X. Importantly, there are reports of men with an intermediate number of repeats developing tremors and other neurologic problems such as memory loss after age 50. Thus, now that you are known to have this 'intermediate' number (by the way, you just make it to the 'intermediate' classification at 55; at 54 you would be considered normal), I would strongly recommend that you see a genetics counsellor AND and REI - as a non-geneticist I think the risk of a mentally retarded child due to Fragile X is very low but you should get the full picture before deciding what to do. Remember that doing IVF at age 38 offers you approximatley 25% chance of getting pregnant every time you try, so that if you are not having troubles getting pregnant on your own, you will probably get pregnant easier on your own a third time.
I do not believe that the 55 repeats are the reason for your two miscarriages.
2) Why was fragile X testing done - is your FSH increased, or is there a familiy history? They did a lot of genetic testing, but I don't know why fragile X was included.
3) What infertility treatments have you tried to date, or have you had not problems getting pregnant - just staying pregnant. Tried Clomid, but just have problems staying pregnant.