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植入前基因诊断/筛查的进展

Advances in preimplantation genetic diagnosis/screening.

作者信息

Yan LiYing, Wei Yuan, Huang Jin, Zhu XiaoHui, Shi XiaoDan, Xia Xi, Yan Jie, Lu CuiLing, Lian Ying, Li Rong, Liu Ping, Qiao Jie

机构信息

Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, China.

出版信息

Sci China Life Sci. 2014 Jul;57(7):665-71. doi: 10.1007/s11427-014-4683-5. Epub 2014 Jun 7.

Abstract

Preimplantation genetic diagnosis (PGD) gives couples who have a high risk of transmitting genetic disorders to their baby the chance to have a healthy offspring through embryo genetic analysis and selection. Preimplantation genetic screening (PGS) is an effective method to select euploid embryos that may prevent repeated implantation failure or miscarriage. However, how and to whom PGS should be provided is a controversial topic. The first successful case of PGD of a human being was reported in 1990, and there have been tremendous improvements in this technology since then. Both embryo biopsy and genetic technologies have been improved dramatically, which increase the accuracy and expand the indications of PGD/PGS.

摘要

植入前基因诊断(PGD)使那些将遗传疾病传给婴儿风险很高的夫妇有机会通过胚胎基因分析和选择生育健康后代。植入前基因筛查(PGS)是选择整倍体胚胎的有效方法,可预防反复植入失败或流产。然而,PGS应如何提供以及提供给谁是一个有争议的话题。1990年报道了首例人类PGD成功案例,从那时起这项技术有了巨大进步。胚胎活检和基因技术都有了显著改进,提高了PGD/PGS的准确性并扩大了其适应症。

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