Conference Presentation
Reproductive and Gynecologic Care for Women with the Fragile X Premutation
June 27, 2020
Heather Hipp, Jennifer Barber, and Keiko Mathewson discuss their recommendations for women at high risk to consider earlier childbearing or methods of fertility preservation, such as egg (oocyte) or embryo freezing.
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With Heather Hipp, Jennifer Barber, and Keiko Mathewson
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Women with a premutation of Fragile X have a 20% risk of developing Fragile X-associated primary ovarian insufficiency, or FXPOI. Women with FXPOI struggle with infertility and the health effects of early onset ovarian insufficiency, including hot flushes, night sweats, and risks of osteoporosis. Many women do not receive adequate hormone replacement therapy, which has been shown to be protective against these risks.
For women who are carriers and are still having menstrual cycles, there is information that CGG repeat length and history of tobacco use can help predict the risk of FXPOI. Ovarian reserve markers, such as AMH, are also often used, though these have not been validated in young women with the premutation.
If they decide to have children, they can spontaneously conceive and, if desired, pursue prenatal testing for the Fragile X mutation with chorionic villus sampling or amniocentesis.
Women can also undergo in-vitro fertilization with pre-implantation genetic testing on their embryos if they do not want to pass on the mutation to a child.
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