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01.12.2014 | Original Research | Ausgabe 6/2014

Journal of Genetic Counseling 6/2014

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

Journal of Genetic Counseling > Ausgabe 6/2014
Lisa M. Pastore, Maria Antero, Karen Ventura, J. Kim Penberthy, Semara A. Thomas, Logan B. Karns
Wichtige Hinweise
Location of study: Charlottesville, VA; Chapel Hill, NC; Stanford, CA


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 < 0.0003). When asked at T1 to “describe your feelings when you consider that you are potentially a carrier” of a FXP, 10 % had negative feelings, 50 % felt ambivalent, and 40 % had positive feelings. At T2, feelings about not being a carrier were significantly more favorable (p < 0.0001): negative (0 %), ambivalent (6.5 %), positive (93 %). Corroborating prior reports, few women had a negative view of FXP, perhaps anticipating that carrying the FXP explains their infertility. Perception of the seriousness of FXP increased after learning they did not carry the FXP, which would be predicted by health belief models.

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