Genetics Department, California Cryobank, Los Angeles, California 90025, USA.
Fertil Steril. 2010 Oct;94(5):1912-4. doi: 10.1016/j.fertnstert.2009.12.071. Epub 2010 Feb 12.
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.
对 277 名活跃的精液捐赠者和新的精液捐赠者申请人进行了脊髓性肌萎缩症（SMA）携带者筛查；其中 5 名男性检测为 SMA 携带者。通过将新的遗传测试（如脊髓性肌萎缩症携带者筛查）纳入供者筛查实践，可以显著降低供者后代出现特定医疗问题的风险；然而，未来的工作应侧重于向供者配子受者传达遗传筛查的局限性，并制定关于在供者中实施新的遗传测试的指南。
