CLINICAL EXPERIENCE WITH SPERM DONOR QUALIFICATION BASED ON EXPANDED CARRIER SCREENING Results

Abstract

Updated ASRM guidance states that expanded carrier screening (ECS) of potential gamete donors may be appropriate and that while donors who are carriers for recessive disorders need not be excluded, there may exceptions for those identified to be at-risk for health issues based upon their results. This study describes the ECS findings in sperm donor applicants which led to their exclusion from the donor program at a public sperm bank in the United States. ECS was performed on sperm donor applicants as part of the donor qualification process. Potential donors were tested for between 261 and 283 conditions at an outside reference laboratory based upon the timeframe in which they entered the program. A retrospective review of ECS results from July 2017 to April 2021 was performed. A total of 803 donor applicants had ECS performed during the donor qualification process. Of these applicants, 17 donors (2.16%) were disqualified from participation in the donor program based on their ECS results. Eight applicants were found to be either heterozygous or hemizygous for conditions that may convey significant health risks to carriers, and eight applicants were found to be either compound heterozygous or homozygous for autosomal recessive conditions. The eight applicants with two mutations for autosomal recessive disorders reportedly did not have any symptoms related to their genotype. One applicant was found to carry a deletion including the RPGRIP1L and FTO genes. The FTO deletion was an incidental finding, and given that it is not a condition routinely included on ECS panels, there is limited availability of reciprocal carrier screening. As such, the donor was disqualified from participation in the program. Beyond providing relevant reproductive risk information regarding donor carrier status for many autosomal recessive disorders, performing ECS as part of the sperm donor qualification process also revealed clinically significant results related to personal health management for approximately 1 in 50 applicants, which led to their disqualification as candidates for the donor program.