P-034 Clinical experience with expanded carrier screening results on a sperm donor applicant population

Abstract Study question What is the frequency of clinically significant results from expanded carrier screening (ECS) in a sperm donor applicant population and how should these be managed? Summary answer ECS revealed information for approximately 1 51 applicants, which warrant specific management considerations context third-party reproduction. known already The American Society Reproductive Medicine (ASRM) Practice Committee published guidance January 2021 that outlines recommended approach gamete donors. However, there no additional direction related to including suitability, counseling, informed consent. Prior studies have illustrated high donors who are identified as carriers one or more recessive disorders on an panel; thus, excluding all prospective conditions not feasible appropriate given availability reciprocal reproductive partner. design, size, duration A retrospective review genetic records July 2017 December was performed. Relevant data extracted categorized by result. Genetic counselors evaluated health risks potential (PDs) associated with being pathogenic mutation each gene using data, reference laboratory interpretations, professional guidelines. Participants/materials, setting, methods performed applicants part routine qualification process. Testing at outside after participants provided written consent testing. genes included panel were analyzed multiple methodologies. Specific methodologies varied based upon offerings time entered program. Main role chance total 966 PDs had during specified timeframe. Of 19 (1.97%) having potentially their results. those PDs, eleven found either heterozygous hemizygous may convey carriers. these, nine positive variant typically AR condition two carried variants X-linked conditions. Eight compound homozygous autosomal condition. Limitations, reasons caution Donor recruitment limited select major metropolitan areas U.S.; represent ethnic groups socioeconomic backgrounds. Additionally, this study described single does illustrate variation panels across testing laboratories. Wider implications findings While examined population, also applicable general necessity post-test counseling. In some cases, provide insight future opportunities. Trial registration number Not