Screening semen donors for hereditary diseases. The Fairfax cryobank experience.

D Bick
E F Fugger
S H Pool
W B Hazelrigg
K N Yadvish
W C Spence
A Maddalena
P N Howard-Peebles
J D Schulman


OBJECTIVE: To study the carrier frequency of hereditary diseases in potential semen donors with no family history of a genetic disease.

STUDY DESIGN: Carrier screening was performed on potential semen donors for chromosomal abnormalities, cystic fibrosis, alpha-1-antitrypsin deficiency, hemoglobinopathies, Tay-Sachs disease, Gaucher disease, Canavan disease, and hereditary breast and ovarian cancer (the BRCA1 185delAG mutation). The screening regimen used for each donor was dictated by his ethnic background.

RESULTS: Among 361 individuals screened for chromosomal abnormalities, 1 carried an inversion, and 4 were possible mosaics. Fifteen of 407 potential donors carried cystic fibrosis, 18 of 209 carried alpha-1-antitrypsin deficiency, and 2 of 74 carried a hemoglobinopathy. No carriers of Tay-Sachs disease (56 screened), Gaucher disease (32 screened), Canavan disease (22 screened) or the BRCA1 185delAG mutation (22 screened) were found.

CONCLUSION: Screening semen donors for a number of genetic diseases that are passed silently from generation to generation is warranted since family history alone cannot identify them.