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

Eli A. Rybak, Kris Bevilacqua, Christina R. Veit, Susan D. Klugman, Nanette Santoro

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
JournalFertility and Sterility
Volume92
Issue number1
DOIs
StatePublished - Jul 2009

Fingerprint

Oocyte Donation
Intellectual Disability
Primary Ovarian Insufficiency
Siblings
Mutation
Cryopreservation
Tissue Donors
Ethics Consultation
Embryonic Structures
Ethics Committees
Genetic Testing
Blastocyst
Uncertainty
Reproduction
Referral and Consultation
Outcome Assessment (Health Care)
Psychology

Keywords

  • cryopreservation
  • ethics
  • FMR1 gene
  • fragile X
  • genetics
  • ovum donation
  • Premature ovarian failure
  • psychology
  • sibling ovum donation

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Reproductive Medicine

Cite this

Sibling and self ovum donation for sisters with an intermediate FMR1 mutation : what's a program to do? / Rybak, Eli A.; Bevilacqua, Kris; Veit, Christina R.; Klugman, Susan D.; Santoro, Nanette.

In: Fertility and Sterility, Vol. 92, No. 1, 07.2009.

Research output: Contribution to journalArticle

Rybak, Eli A. ; Bevilacqua, Kris ; Veit, Christina R. ; Klugman, Susan D. ; Santoro, Nanette. / Sibling and self ovum donation for sisters with an intermediate FMR1 mutation : what's a program to do?. In: Fertility and Sterility. 2009 ; Vol. 92, No. 1.
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