Sibling and self ovum donation for sisters with an intermediate FMR1 mutation: what's a program to do?

Objective: To increase awareness of the unique clinical and ethical considerations invoked by the request of a patient with premature ovarian failure (POF) and her nulliparous sister, both with intermediate-size mutations in fragile X mental retardation 1 (FMR1), to pursue sibling ovum donation. Design: Case report. Setting: Academic medical center. Patient(s): A 32-year-old woman with POF and her 26-year-old sister with occult diminished ovarian reserve, both of whom are carriers of an intermediate-size mutation in FMR1. Intervention(s): Prospective donor ovarian function testing, genetic testing and consultation, and psychological evaluation; institutional assisted reproduction ethics committee consultation, and controlled ovarian hyperstimulation-IVF with cryopreservation of embryos for potential future self-use. Main Outcome Measure(s): Successful cryopreservation of embryos for autologous use by the prospective donor (younger sister) before ovum donation. Results(s): Three blastocysts were frozen. Conclusion(s): Requests for sibling ovum donation, while understandable and ethically sanctioned under typical circumstances, prove particularly challenging in some patients with POF given uncertainties regarding the prognosis of the currently asymptomatic sister, risks of genetic transmission of POF, and fiduciary responsibilities to address the reproductive interests of the prospective donor. A multidisciplinary approach was highly beneficial in this case.