Attitudes Towards Potentially Carrying the FMR1 Premutation: Before vs After Testing of Non-Carrier Females with Diminished Ovarian Reserve

Diminished ovarian reserve (DOR) and premature ovarian failure are associated with elevated FMR1 CGG repeat alleles. We assessed pretest attitudes about potentially carrying the FMR1 premutation (FXP) (>55 CGG repeats) among reproductive age women compared with attitudes after learning their non-carrier status. Ninety-two women with DOR, regular menses and no family history of Fragile X Syndrome underwent FMR1 testing and completed attitudinal questionnaires before (T1) and 3 months after learning the test results (T2). The analysis utilized signed rank tests and α = 0.05. Very few women thought they were likely to have a FXP (6.6 %). More participants thought FMR1 premutations were “serious” at T2 (62.9 %) than at T1 (46.1 %, p