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中国专家的共识指南关于对单一性疾病进行植入前遗传测试

Liying Yan¹, Yunxia Cao², Zi-Jiang Chen³

¹Department of Obstetrics and Gynecology, Center for Reproductive Medicine, National Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.

Human reproduction (Oxford, England)

|November 20, 2023

概括

中国专家制定了针对单基因疾病 (PGT-M) 的植入前遗传测试指南. 这种共识旨在标准化预防遗传性疾病的临床和实验室实践.

科学领域:

生殖医学生殖医学
人类遗传学人类遗传学
分子诊断学分子诊断

背景情况:

分子生物学和遗传诊断方面的进步提高了对单基因疾病 (PGT-M) 的植入前遗传测试.
目前关于PGT-M应用和监管的共识有限.
遗传性疾病带来了重大挑战,需要标准化基因检测协议.

研究的目的:

为中国PGT-M的监管和应用制定一个共识声明.
为与PGT-M相关的临床和实验室实践提供基于证据的指导方针.
确保PGT-M的一致和道德的实施,以预防单一性疾病.

主要方法:

中国生殖医学和遗传学专家的共识声明的制定.
包括关键方面:患者选择,遗传咨询,知情同意,诊断策略,报告,结果解释和随访.
专注于建立PGT-M的最佳实践.

主要成果:

已经制定了一份全面的共识声明,概述了PGT-M程序.
这一共识涵盖了从患者咨询到测试后随访的关键要素.
这些指导方针旨在支持基于证据的临床和实验室实践.

结论:

共识声明为PGT-M的适当应用提供了一个框架.
它旨在规范PGT-M程序,确保质量和道德标准.
该倡议支持通过监管的基因检测来预防遗传性疾病.

关键词:

专家的共识专家的共识遗传性疾病是一种遗传性疾病.单源性疾病单源性疾病在植入前进行遗传检测.生殖医学是一种生殖医学.

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