Spinal muscular atrophy (SMA) after conception using gametes from anonymous donors: recommendations for the future

Objective To discuss the diagnosis of spinal muscular atrophy in a child conceived using donor gametes. Design None. Setting None. Patient(s) Offspring of gamete donors. Intervention(s) None. Main Outcome Measure(s) None. Result(s) A child conceived using gametes from anonymous sperm and ova donors was diagnosed with spinal muscular atrophy type 1. Conclusion(s) Gamete donor facilities are not required to perform extensive genetic testing on their donors; however, the well-being of the children conceived through assisted reproductive technologies should be a primary objective of reproductive medicine. The risk for specific medical problems in donor offspring can be significantly reduced by incorporating carrier screening for common, severe disorders such as spinal muscular atrophy into donor screening practices. Future efforts should focus on communicating the limitations of genetic screening to donor gamete recipients and educating them about their reproductive options.