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

Kendra L. Schaa; Renata Thoeny; Rebecca J. Benson; Graeme J. Pitcher; Shelby Romoser; Alpa Sidhu

doi:10.1002/jgc4.70053

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

Journal article

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

Kendra L. Schaa, Renata Thoeny, Rebecca J. Benson, Graeme J. Pitcher, Shelby Romoser and Alpa Sidhu

Journal of genetic counseling, Vol.34(3), e70053

06/2025

DOI: 10.1002/jgc4.70053

PMCID: PMC12080296

PMID: 40372085

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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.

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Details

Title: Subtitle: Pediatric predictive testing to inform preimplantation genetic testing: A case report and review of the literature
Creators: Kendra L. Schaa - University of Iowa Health Care
Renata Thoeny - University of Iowa
Rebecca J. Benson - University of Iowa Health Care
Graeme J. Pitcher - University of Iowa Health Care
Shelby Romoser - University of Iowa
Alpa Sidhu - University of Iowa Health Care
Resource Type: Journal article
Publication Details: Journal of genetic counseling, Vol.34(3), e70053
DOI: 10.1002/jgc4.70053
PMID: 40372085
PMCID: PMC12080296
NLM abbreviation: J Genet Couns
ISSN: 1059-7700
eISSN: 1573-3599
Publisher: Wiley
Alternative title: Schaa et al
Language: English
Date published: 06/2025
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics; Surgery; Injury Prevention Research Center; General Pediatrics and Adolescent Medicine
Record Identifier: 9984823075702771

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