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Review
. 2025 Jun;34(3):e70053.
doi: 10.1002/jgc4.70053.

Pediatric predictive testing to inform preimplantation genetic testing: A case report and review of the literature

Kendra L Schaa  1 , Renata Thoeny  1 , Rebecca J Benson  2 , Graeme J Pitcher  3 , Shelby Romoser  4 , Alpa Sidhu  4
Affiliations
Review

Pediatric predictive testing to inform preimplantation genetic testing: A case report and review of the literature

Kendra L Schaa et al. J Genet Couns. 2025 Jun.

Abstract

Clinical genetic testing is rapidly expanding in reproductive, pediatric, and adult specialties. We report the case of a couple's request for pediatric genetic testing for a familial Lynch syndrome pathogenic variant, with the goal of utilizing this information to perform preimplantation genetic testing (PGT) on cryopreserved embryos. We outline existing professional guidelines related to genetic testing of embryos and minors for adult-onset conditions. By highlighting conflicting perspectives from various interested parties, the significant ethical ambiguity in pediatric predictive genetic testing is underscored. This case exemplifies the value of a multidisciplinary team approach and shared decision-making model to guide parental requests for predictive genetic testing of a minor for the purpose of PGT.

Keywords: ethics; genetic counseling; hereditary cancer predisposition; parents; predictive genetic testing; reproductive planning; shared decision making.

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Conflict of interest statement

Kendra L. Schaa is the Founder of Allay Life®. Renata Thoeny, Alpa Sidhu, Shelby Romoser, Rebecca Benson, Graeme Pitcher have no conflict of interest to disclose.

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