When a woman's ovaries stop functioning before the age of 40, she is said to experience premature ovarian dysfunction (also called POF). This can occur sporadically, and may also affect several women in the same family. There are both nongenetic and genetic causes for POF, including Fragile X syndrome.

It is estimated that around 1 percent of women in the general population will experience POF. In several studies, women who carry a premutation for Fragile X have a 14 to 16 percent risk of developing POF. Approximately 1 in 246 to 1 in 468 women carry a Fragile X premutation.

Reproductive Options and Fragile X

Because Fragile X syndrome is an inherited condition, and women who carry a premutation are at increased risk to have a child with full mutation Fragile X, it is strongly recommended that all women who are carriers of Fragile X syndrome receive genetic counseling prior to getting pregnant or beginning reproductive technology treatments.

Women who carry Fragile X premutations may have lower success rates with some common reproductive treatments, because their ovaries may not respond as well to certain medications. Every woman responds differently, however, and some women who are Fragile X premutation carriers have had success with assisted reproductive technologies.

Women with Fragile X premutations have reproductive options that include:

• Attempting natural conception at an earlier age, to minimize possible effects of POF
• Deciding whether prenatal diagnosis provides information that they would want to know prior to birth
• Deciding to try in vitro fertilization, either with or without preimplantation genetic diagnosis (PGD)
• Using donor eggs
• Deciding to adopt children
• Deciding to not have children

These are very complex decisions that are best made with the help of a specialist who fully understands all of the options, and who you feel understands your specific concerns and issues.

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