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

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

PMC · DOI: 10.1002/jgc4.70053 · Journal of Genetic Counseling · 2025-05-15

## TL;DR

A case report discusses the ethical and practical aspects of using pediatric genetic testing to guide embryo selection in reproductive medicine.

## Contribution

The paper presents a case emphasizing the ethical challenges and multidisciplinary approach needed for pediatric predictive genetic testing in PGT.

## Key findings

- Pediatric genetic testing for adult-onset conditions raises ethical concerns and requires careful multidisciplinary evaluation.
- Professional guidelines highlight conflicting perspectives on genetic testing of embryos and minors.
- Shared decision-making is crucial when parents seek predictive genetic testing for PGT.

## 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.

## Linked entities

- **Diseases:** Lynch syndrome (MONDO:0005835)

## Full-text entities

- **Genes:** PMS2 (PMS1 homolog 2, mismatch repair system component) [NCBI Gene 5395] {aka HNPCC4, LYNCH4, MLH4, MMRCS4, PMS-2, PMSL2}
- **Diseases:** M (MESH:C566367), Lynch syndrome (MESH:D003123), PGT (MESH:D013736), Lynch syndrome-related cancers (MESH:D009369), endometrial cancer (MESH:D016889), PGT-A (MESH:D000782), genetic condition (MESH:D030342), autosomal dominant tumor predisposition syndrome (OMIM:614327), hereditary tumor (MESH:D013132), monogenic disorders (MESH:D009358)
- **Chemicals:** PGT (-)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

33 references — full list in the complete paper: https://tomesphere.com/paper/PMC12080296/full.md

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Source: https://tomesphere.com/paper/PMC12080296