Total fertilization failure with in vitro fertilization-intracytoplasmic sperm injection related to WEE2 mutation highlights emerging importance of genetic causes of in vitro fertilization failure
Hillary S. Weiner, M.B.E.,
Nicole D. Ulrich, M.D.,
Lauren Hipp, M.S., C.G.C.,
Ahmad Hammoud, M.D.,
Min Xu, Ph.D.,
Samantha B. Schon, M.D.
Affiliations
Hillary S. Weiner, M.B.E.
University of Michigan Medical School, Ann Arbor, Michigan
Nicole D. Ulrich, M.D.
University of Michigan Medical School, Ann Arbor, Michigan; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Michigan Medicine
Lauren Hipp, M.S., C.G.C.
Department of Genetic Medicine, Michigan Medicine, Ann Arbor, Michigan
Ahmad Hammoud, M.D.
Department of Obstetrics and Gynecology, Oakland William Beaumont School of Medicine, Rochester, Michigan; IVF Michigan Fertility Centers, Bloomfield Hills, Michigan
Min Xu, Ph.D.
University of Michigan Medical School, Ann Arbor, Michigan; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Michigan Medicine
Samantha B. Schon, M.D.
University of Michigan Medical School, Ann Arbor, Michigan; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Michigan Medicine; Reprint requests: Samantha B. Schon, M.D., Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Michigan Medicine University of Michigan Medical School, Michigan Medicine, 1500 E Medical Center Drive, Ann Arbor, Michigan 4109.
Objective: To report a unique case of total fertilization failure (TFF) after in vitro fertilization with intracytoplasmic sperm injection related to homozygous WEE2 gene mutation and summarize the current literature and management of TFF. Design: Case report. Setting: Academic fertility center. Patient(s): A 25-year-old woman and her 35-year-old partner with a history of near-complete fertilization failure after 2 cycles of in vitro fertilization/intracytoplasmic sperm injection. Intervention(s): Consultation with medical and commercial genetic testing for WEE2, PLCZ1, and TLE6. Main Outcome Measure(s): Oocyte fertilization. Result(s): The patient was homozygous for WEE2 pathogenic variant impacting oocyte activation and resulting in infertility. Conclusion(s): In the setting of TFF, early consideration should be given to genetic testing to assist couples in clinical decision-making and help limit the financial and emotional burden associated with unsuccessful fertility intervention.
