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Department ResearchThe OB/GYN Department at the University of Virginia is involved in a wide range of research studies on women's health. We also have a dedicated Epidemiologist on staff, Lisa M. Pastore, PhD, to assist in the departmental studies and to conduct independent research. Fragile X Premutation Screening in Adult WomenPremature menopause is defined as menopause before the age of 40. Recent information suggests that there is a link between premature menopause and genetic premutations in the Fragile X gene. We implemented a self-administered questionnaire in 2004 to assess the patient acceptability of and reactions to the Fragile X premutation genetic testing among adult women who do not have any relatives with Fragile X syndrome (which presents as mental retardation among males). Using their input, we developed a Fact Sheet for clinical use by clinicians who have adult female patients with ovarian dysfunction- premature menopause, early menopause before 45 or infertility associated with possible early ovarian failure. See [citation] for our related publication.) This document is available for free “downloading”- please copy the context of the web page into your word processor, and edit, as appropriate, for your patient population. This second web page contains information on how to interpret the test results. We generally give this page to our patients after they have provided a blood sample for Fragile X premutation screening. During our 2004 survey (referenced above), women reported that this level of information was “too much” to learn when initially deciding whether to be screened or not. |