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Updated: May 16, 2025
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Pediatric predictive testing to inform preimplantation genetic testing: A case report and review of the literature
Kendra L Schaa1, Renata Thoeny1, Rebecca J Benson2
1Department of Obstetrics and Gynecology, University of Iowa Health Care, Iowa City, Iowa, USA.
Insights
This case study explores pediatric genetic testing for Lynch syndrome to enable preimplantation genetic testing (PGT). It highlights ethical complexities and the need for multidisciplinary guidance in predictive genetic testing for minors.
Area of Science:
- Medical Genetics
- Reproductive Medicine
- Bioethics
Background:
- Clinical genetic testing is expanding across reproductive, pediatric, and adult care.
- Lynch syndrome is an inherited condition increasing cancer risk.
- Preimplantation genetic testing (PGT) allows screening of embryos for genetic disorders.
Purpose of the Study:
- To examine the ethical considerations of pediatric predictive genetic testing for Lynch syndrome.
- To evaluate the use of this testing for subsequent preimplantation genetic testing (PGT).
- To underscore the importance of multidisciplinary approaches in complex genetic testing scenarios.
Main Methods:
- Case report analysis.
- Review of professional guidelines on genetic testing in minors and embryos.
- Exploration of ethical perspectives from stakeholders.
Main Results:
- A couple sought pediatric genetic testing for Lynch syndrome to inform PGT.
- Existing guidelines present ambiguities regarding pediatric predictive testing for adult-onset conditions.
- Conflicting viewpoints highlight significant ethical challenges.
Conclusions:
- Pediatric predictive genetic testing for PGT raises substantial ethical questions.
- A multidisciplinary team and shared decision-making are crucial for navigating parental requests.
- This case emphasizes the complexity of genetic testing for minors and reproductive planning.
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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