Screening semen donors for hereditary diseases. The Fairfax cryobank experience.
OBJECTIVE
To study the carrier frequency of hereditary diseases in potential semen donors with no family history of a genetic disease.


METHODS
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.


CONCLUSIONS
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.
Bick
D
D
Genetics & IVF Institute, Fairfax, Virginia 22031, USA.
Fugger
E F
EF
Pool
S H
SH
Hazelrigg
W B
WB
Yadvish
K N
KN
Spence
W C
WC
Maddalena
A
A
Howard-Peebles
P N
PN
Schulman
J D
JD
D002869:Chromosome Aberrations; D015925:Cryopreservation; D003550:Cystic Fibrosis / Q000235:genetics; D005006:Ethnicity; D006580:Genetic Carrier Screening; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics; D006801:Humans; D007316:Insemination, Artificial, Heterologous; D008297:Male; D044469:Racial Groups; D012661:Semen; D012662:Semen Preservation; D014019:Tissue Donors; D019896:alpha 1-Antitrypsin Deficiency / Q000235:genetics