Management of the risks for inherited disease in donor-conceived offspring

The potential risk of multifactorial and autosomal dominant disorders in donor-conceived offspring is a significant concern, and greater awareness of these inherited risks in the gamete donor setting is needed.

Volume 106, Issue 6, Pages 1479-1484


Lauren Isley, M.S., L.C.G.C., Rena E. Falk, M.D., Jaime Shamonki, M.D., Charles A. Sims, M.D., Pamela Callum, M.S., L.C.G.C.



To illustrate the burden of inherited disease on donor-conceived offspring based on mode of inheritance and to provide guidance on methods of risk reduction.


An 8.5-year retrospective review of outcome reports and donor management to summarize medical risks to donor-conceived offspring that presented after the sperm donors were qualified for participation in the donor program.


Not applicable.





Main Outcome Measure(s)

Description of our experience with newly identified medical risks in donor-conceived offspring as well as how this information was ascertained and managed.


More than half of the indications to restrict donor specimen distribution were due to multifactorial disorders. Approximately one third of the restrictions involved autosomal recessive disorders. The remainder of the restrictions were due to the other indications, including autosomal dominant disorders.


The risks for multifactorial disorders or undiagnosed autosomal dominant disease cannot be significantly reduced or eliminated with routine donor screening procedures. Ongoing risk assessment is essential to identify new genetic risks for autosomal dominant and multifactorial disorders. These assessments require an investment of resources and genetics professionals in the long-term management of changing health information as well as collaboration among gamete facilities, recipients, donors, and their health care providers.

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