Genetic screening of prospective oocyte donors

Abstract

Objective: To report our experience with genetic screening of oocyte donor candidates and to determine the frequency with which significant genetic issues are identified. Design: Prospective genetic screening of oocyte donor candidates. Setting: University hospital oocyte donation program. Patient(s): Women presenting consecutively as volunteer oocyte donors. Intervention(s): Genetic screening was performed by pedigree analysis and laboratory studies. Main Outcome Measure(s): Inclusion in the oocyte donor pool based on the results of clinical evaluation and laboratory tests consisting of polymerase chain reaction–based mutational analysis for cystic fibrosis carrier status, cytogenetic analysis for karyotype, enzymatic assay for Tay-Sachs disease carrier status, and complete blood count and hemoglobin electrophoresis. Result(s): Eight (11%) of 73 oocyte donor candidates were excluded from the donor pool because of a potentially serious genetic finding. Cystic fibrosis 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 results. A thorough genetic evaluation, including a history and laboratory screening, is essential to any oocyte donation program to maximize positive outcomes in pregnancies achieved through assisted means.