With Heather Hipp, Jennifer Barber, and Keiko Mathewson
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. 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.
Presenters: Heather Hipp, Jennifer Barber, and Keiko Mathewson
Moderator: Jayne Dixon-Weber
Runtime: 1:21:26
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.
Moderated by Jayne Dixon-Weber
about
Jayne Dixon Weber
Jayne served as the NFXF director of community education (and other positions over the years) from 2007 to 2023. She has two adult children, a son with Fragile X syndrome and a daughter. Jayne is the author of Transitioning ‘Special’ Children into Elementary School, co-author of Fragile X Fred, and editor of Children with Fragile X Syndrome: A Parents’ Guide. Jayne likes to read, enjoys photography, and goes for a walk every day.