Inclusion of heterozygotes for cystic fibrosis in the egg donor pool

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Objective: To describe and discuss our experience with cystic fibrosis (CF) carrier testing in a donor egg program.Design: Retrospective review. Setting: Community hospital-based assisted reproductive technology (ART) program. Patient(s): Forty anonymous white oocyte donor applicants.Intervention(s): Testing with a DNA mutation analysis panel. Main Outcome Measure(s): Frequency of heterozygotes for CF mutation among the donor applicants and the likelihood of carriers and noncarriers being selected by recipients. Result(s): Five of 40 egg donor applicants (12.5%) were found to be heterozygous for a CF mutation; 35 women (87.5%) tested negative. Two of the five CF carriers (40.0%) were selected by five recipient couples and underwent four donation cycles after the recipients' male partners tested negative. Twenty-nine of the 35 noncarrier donors (82.9%) were matched and underwent 81 egg donation cycles. The likelihood of being selected was lower for CF carriers than for noncarriers.Conclusion(s): Our experience strongly supports the recommendation of routine CF testing of prospective white egg donors. Whereas heterozygosity lowers the probability of a donor being matched, it need not exclude her from the donor pool provided the recipient's partner is not a carrier. Empowering recipients to choose their own donors, focused patient education, and genetic counseling with precise determination of residual risk are important prerequisites for inclusion of CF carriers. © 2002 American Society for Reproductive Medicine.




Zenke, U., & Chetkowski, R. J. (2002). Inclusion of heterozygotes for cystic fibrosis in the egg donor pool. Fertility and Sterility, 78(3), 557–561.

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