Genetic testing of sperm donors: survey of current practices

A survey of 1700 women who formed their families using donor spermatozoa

“…Testing and screening of donors for genetic diseases has been found to vary considerably between banks, both in the number of conditions tested and the rigour with which tests are carried out (Heled, 2010;Sims et al, 2010). As early as 1997, it was suggested that state-by-state guidelines were ineffective and that federal regulation of genetic screening was necessary to ensure that children conceived using DI would not be exposed to inherited genetic diseases (Ginsberg, 1997).…”

Outcome and experience of implementing spinal muscular atrophy carrier screening on sperm donors

“…SMA carrier screening meets previously published recommendations for genetic testing on a sperm donor population because it is a common disorder occurring in approximately 1/10,000 live births, has a high mortality rate in infancy, the natural history is well understood, and the available testing has a 90% carrier detection rate (4,6,7). General population screening for SMA became widely available in 2008 through independent laboratories and the importance and availability of this testing was widely publicized.…”

“…We previously reported on the genetic testing performed at public sperm banks across the United States and identified significant variability in testing practices because sperm banks independently determine which genetic tests to include as part of their programs and when and how to incorporate new tests (4). Donor eligibility at our facility is determined in part by a three-generation pedigree, chromosome analysis, and hemoglobinopathy and cystic fibrosis carrier screening.…”

“…The decision to incorporate these tests was determined in part by practice guidelines from the American College of Medical Genetics (ACMG) (4,5). SMA carrier screening meets previously published recommendations for genetic testing on a sperm donor population because it is a common disorder occurring in approximately 1/10,000 live births, has a high mortality rate in infancy, the natural history is well understood, and the available testing has a 90% carrier detection rate (4,6,7).…”

“…General population screening for SMA became widely available in 2008 through independent laboratories and the importance and availability of this testing was widely publicized. Furthermore, semen specimens from our facility are provided to recipients who have diverse ethnic backgrounds and family histories, and who reside in countries around the world where the availability and utilization of preconception genetic counseling services is unknown but assumed to be low (4). Therefore, our practice aims to reduce the risk for birth defects in donor offspring by requiring that donors undergo a thorough qualification process including extensive genetic testing.…”