Inclusion of heterozygotes for cystic fibrosis in the egg donor pool
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Updated: Sep 29, 2026

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
Published on: April 11, 2018
Ulrike Zenke1, Ryszard J Chetkowski
1Alta Bates In Vitro Fertilization Program, Berkeley, California 94705, USA.
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.
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