Screening semen donors for a number of genetic diseases that are passed silently from generation to generation is warranted, as family history alone cannot identify them. The guidelines recommend that semen banks carefully review a potential donor's medical and family histories, and perform a thorough physical examination. This screening process will exclude many potential donors affected with or at risk for carrying hereditary diseases. However, there are a large number of genetic disorders in which the carrier is entirely healthy and has no family history of the disorder. For example, cystic fibrosis, a recessive disorder, frequently occurs in individuals who have no family history.
Carriers remain asymptomatic, silently transmitting the disorder from generation to generation.
It is only when two carriers have a child together that there is a risk. Screening for a number of disorders that are inapparent by history is readily available. To date, there has been little published experience concerning donor carrier screening for hereditary diseases. In this report, we provide our experience with donor screening. We find that there are a significant number of potential donors with unremarkable medical and family histories and a normal physical examination who nevertheless carry a serious hereditary condition, rendering them unsuitable as donors.