GENETIC SCREENING OF PROSPECTIVE OOCYTE DONORS

Objective: To report our experience with genetic screening of oocyte d onor candidates and to determine the frequency with which significant genetic issues are identified. Design: Prospective genetic screening o f oocyte donor candidates. Setting: University hospital oocyte donatio n program. Patient(s): Women presenting consecutively as volunteer ooc yte donors. Intervention(s): Genetic screening was performed by pedigr ee analysis and laboratory studies. Main Outcome Measure(s): Inclusion in the oocyte donor pool bused on the results of clinical evaluation and laboratory tests consisting of polymerase chain reaction-based mut ational analysis for cystic fibrosis carrier status, cytogenetic analy sis for karyotype, enzymatic assay for Tay-Sachs disease carrier statu s, and complete blood count and hemoglobin electrophoresis. Result(s): Eight (11%) of 73 oocyte donor candidates were excluded from the dono r pool because of a potentially serious genetic finding. Cystic fibros is mutations were identified in 5 candidates (7%), abnormal karyotypes were found in 2 (3.5%), and an autosomal dominant skeletal dysplasia was identified in 1 (1.4%). Conclusion(s): A significant proportion of women who present as candidates for oocyte donation are inappropriate for donation because of their genetic history or genetic testing resu lts. A thorough genetic evaluation, including a history and laboratory screening, is essential to any oocyte donation program to maximize po sitive outcomes in pregnancies achieved through assisted means. (Ferti l Steril(R) 1998;70:52-5. (C)1998 by American Society for Reproductive Medicine.).