Inclusion of heterozygotes for cystic fibrosis in the egg donor pool.
OBJECTIVE
To describe and discuss our experience with cystic fibrosis (CF) carrier testing in a donor egg program.


METHODS
Retrospective review.


METHODS
Community hospital-based assisted reproductive technology (ART) program.


METHODS
Forty anonymous white oocyte donor applicants.


METHODS
Testing with a DNA mutation analysis panel.


METHODS
Frequency of heterozygotes for CF mutation among the donor applicants and the likelihood of carriers and noncarriers being selected by recipients.


RESULTS
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.


CONCLUSIONS
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.
Zenke
Ulrike
U
Alta Bates In Vitro Fertilization Program, Berkeley, California 94705, USA.
Chetkowski
Ryszard J
RJ
D002140:California; D003550:Cystic Fibrosis / Q000235:genetics*; D005006:Ethnicity; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D009154:Mutation; D018587:Oocyte Donation / Q000379:methods / Q000592:standards; D018579:Patient Selection; D015203:Reproducibility of Results; D012189:Retrospective Studies; D012680:Sensitivity and Specificity