用于指导植入前基因检测的儿科预测性检测：一例病例报告及文献综述。
Pediatric predictive testing to inform preimplantation genetic testing: A case report and review of the literature.
作者信息
Schaa Kendra L, Thoeny Renata, Benson Rebecca J, Pitcher Graeme J, Romoser Shelby, Sidhu Alpa
机构信息
Department of Obstetrics and Gynecology, University of Iowa Health Care, Iowa City, Iowa, USA.
Division of General Pediatrics and Adolescent Medicine, The Stead Family Department of Pediatrics, Affiliate Faculty, Program of Bioethics and Humanities, University of Iowa Health Care, Iowa City, Iowa, USA.
出版信息
J Genet Couns. 2025 Jun;34(3):e70053. doi: 10.1002/jgc4.70053.
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.
临床基因检测在生殖、儿科和成人专科领域正迅速发展。我们报告了一对夫妇因家族性林奇综合征致病变异而要求进行儿科基因检测的案例，目的是利用该信息对冷冻保存的胚胎进行植入前基因检测（PGT）。我们概述了与胚胎和未成年人针对成人发病疾病进行基因检测相关的现有专业指南。通过强调各相关方相互冲突的观点，凸显了儿科预测性基因检测中存在的重大伦理模糊性。该案例体现了多学科团队方法和共同决策模式在指导父母出于PGT目的对未成年人进行预测性基因检测请求方面的价值。
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