Results of retroactive testing of human semen donors for cystic fibrosis and human immunodeficiency virus by polymerase chain reaction.

Retroactive testing for cystic fibrosis carrier status was performed on 149 semen donors and 100 donor applicants; 162 human immunodeficiency virus (HIV-1) sero-negative non-active semen donors and 45 HIV-1 sero-negative actively donating semen donors were also retroactively tested for HIV-1 by polymerase chain reaction (PCR). The 249 individuals tested for cystic fibrosis were examined for seven mutations including delta F508, G542X, S549I, S549N, G551D, R553X, and W1282X. Of 149 retroactively tested donors, five (3.4%) were determined to be heterozygous carriers of the delta F508 mutation for cystic fibrosis. One of the 100 donor applicants was also heterozygous for delta F508. The 207 HIV-1 sero-negative donors had an average of 15.4 (range 2-45) HIV antibody tests during an average of 15.6 (range 1-68) months of donations. No donors had positive seroconversion. These donors also tested negative for HIV by PCR. Cystic fibrosis testing of donor applicants prevents known carriers from being used for artificial insemination by donor therapy and reduces substantially the risk of an offspring being born with the disease. With stringent donor selection and exclusion of high-HIV-risk applicants, the occurrence of HIV infection and subsequent seroconversion in donor populations should be very infrequent.