单基因病胚胎着床前遗传学检测专家共识

A Chinese experts' consensus on preimplantation genetic testing for monogenic disorders

随着分子生物学技术、遗传诊断技术的发展以及相关术语的更新,单基因病胚胎着床前遗传学检测(preimplantation genetic testing for monogenic/single gene disorders, PGT-M)技术不断进步和更新,广泛应用于临床以避免遗传病患儿的出生和阻断致病基因的家族传递。目前,关于PGT-M的共识还很少,为了规范PGT-M的应用,中国医师协会生殖医学专业委员会精准辅助生殖研究学组及中国医师协会医学遗传医师分会部分专家,包括生殖医学、遗传学和心血管医学专家,共同制定了这一共识。共识包括PGT-M的适应证、禁忌证、诊断策略、遗传和生殖咨询、报告形式、结果解释、知情同意和患者随访等。这一共识将使更多相关的临床工作者和研究人员获益,供临床及实验室参考使用。

Upon the recent advances in molecular biological techniques and genetic diagnostic strategies, along with the updates on relevant terminologies, new methods of preimplantation genetic testing for monogenic/single gene disorders (PGT-M) are developed to prevent transmissions of inherited diseases. However, few consensuses on PGT-M have been published. In order to properly regulate the application of PGT-M, experts from the field of reproductive medicine and genetics jointly drafted this consensus, which includes indications for patient selection, diagnostic strategy, genetic and reproductive counseling, report generation, result interpretation, informed consent and patient follow-ups, etc. This consensus serves to benefit everyone interested in PGT-M in establishing evidence-based clinical and laboratory practices.