Management considerations for clinically relevant findings on expanded carrier screening in a sperm donor applicant population

Abstract

Objective

To describe the clinical experience of managing expanded carrier screening (ECS) results in sperm donor applicants at a sperm bank in the United States, including considerations around suitability determination and appropriate education of prospective donors and recipients.

Design

A retrospective review of donor genetic screening records from July 2017 to December 2021.

Setting

A U.S.-based sperm bank.

Patients

Donor applicants at a sperm bank.

Intervention

Not applicable.

Main Outcome Measures

To examine the rate of potentially significant health risks on the basis of ECS results to inform donor management and donor/recipient counseling considerations.

Results

Nearly 2% of donor applicants were identified as having potentially significant health risks on the basis of their ECS results, and most individuals had no clinical manifestations related to these findings.

Conclusion

There are unique challenges related to ECS in third-party reproduction for gamete providers, recipients, and their healthcare providers. A collaborative, multidisciplinary approach is necessary to help mitigate risks to donor offspring and maximize patient experience. Informed consent and access to a trained genetics professional are paramount when facilitating ECS on donor applicants and disseminating results to recipients.