The ovarian response in fragile X patients and premutation carriers undergoing IVF–PGD: reappraisal

STUDY QUESTION: What is the association between the ovarian response and the number of CGG repeats among full mutation and premutation carriers of fragile X (FMR1), undergoing controlled ovarian hyperstimulation (COH) for PGD? SUMMARY ANSWER: Ovarian response was normal in full mutation patients but decreased in premutation carriers, although the number of repeats was not statistically significantly associated with the number of oocytes retrieved. WHAT IS KNOWN ALREADY: There is inconsistent data in the literature regarding ovarian response in FMR1 carriers. Studies exploring the ovarian response of full mutation patients are lacking. STUDY DESIGN, SIZE, DURATION: Retrospective study, a university affiliated tertiary hospital, IVF unit, PGD referral center. PARTICIPANTS/MATERIALS, SETTING, METHODS: We examined the medical records of all women undergoing fresh IVF-PGD cycles due to fragile X. Data recorded included demography, duration of stimulation, amount of gonadotropins administered, number of dominant follicles, maximal E2 levels and number of oocytes retrieved. Data were analyzed using univariate and multivariate mixed models. P-values 100 repeats, which made it challenging to draw a firm conclusions from this group. WIDER IMPLICATIONS OF THE FINDINGS: Physicians must address the increased risk for reduced ovarian response and  primary ovarian insufficiency (POI) among carriers and consider surveillance of ovarian reserve markers. The last, might expedite family plans completion or fertility preservation. STUDY FUNDING/COMPETING INTEREST(S): None.