The Journal of reproductive medicine · 1998
Screening semen donors for hereditary diseases. The Fairfax cryobank experience.
СтатьяНазвание и аннотация: Перевод в очереди
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Bick D, Fugger E F, Pool S H, Hazelrigg W B, Yadvish K N, Spence W C, Maddalena A, Howard-Peebles P N, Schulman J D
Аннотация
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.
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.