SCREENING SEMEN DONORS FOR HEREDITARY-DISEASES - THE FAIRFAX CRYOBANKEXPERIENCE

OBJECTIVE: To study the carrier frequency of hereditary diseases in po tential semen donors with no family history of a genetic disease. STUD Y DESIGN: Carrier screening was performed on potential semen donors fo r chromosomal abnormalities, cystic fibrosis, alpha-1-antitrypsin defi ciency, hemoglobinopathies, Tay-Sachs disease, Gaucher disease, Canava n disease, and hereditary breast and ovarian cancer (the BRCA1 185delA G mutation). The screening regimen used for each donor was dictated by his ethnic background. RESULTS: Among 361 individuals screened for ch romosomal abnormalities, 1 carried art inversion, and 4 were possible mosaics. Fifteen of 407 potential donors carried cystic fibrosis, 18 o f 209 carried alpha-1-antitrypsin deficiency, and 2 of 74 carried a he moglobinopathy. No carriers of Tay-Sachs disease (56 screened), Gauche r disease (32 screened), Canavan disease (22 screened) or the BRCA1 18 5delAG mutation (22 screened) were found. CONCLUSION Screening semen d onors for a number of genetic diseases that are passed silently from g eneration to generation is warranted since family history alone cannot identify them.