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

Spinal muscular atrophy (SMA) carrier screening was performed on 277 active semen donors and new semen donor applicants; five men tested positive as carriers for SMA. The risk for specific medical problems in donor offspring can be significantly reduced by incorporating new genetic tests, such as spinal muscular atrophy carrier screening, into donor screening practices; however, future efforts should focus on communicating the limitations of genetic screening to donor gamete recipients and on the development of guidelines for implementing new genetic tests on donors.