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植入前遗传学检测技术的现状及新进展 被引量:11

Current status and new progress of the preimplantation genetic testing
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摘要 随着辅助生殖技术的发展,植入前遗传学检测(preimplantation genetic testing,PGT)技术获得了越来越多的临床应用和关注。植入前遗传学诊断(preimplantation genetic diagnosis,PGD)的目的是避免遗传相关的染色体相关疾病的发生,而随着人们对着床率、活产率等要求逐渐提高,植入前遗传学筛查(preimplantation genetic screening,PGS)应运而生,即避免非整倍体胚胎移植流产以及反复胚胎染色体异常所导致的复发性流产。随着PGT的普及,生殖医学从业者需要对该技术进行充分的认识,以帮助患者更好地解决临床问题。本文回顾了PGT在近30年发展过程中活检技术、检测技术方面的发展,并总结了不同时期活检的妊娠结局,对PGT技术的安全性进行了评估。同时,我们还对PGT技术当前存在的问题进行了分析,并对其未来的发展方向进行了展望。 With the development of assisted reproduction technique, preimplantation genetic testing (PGT) has gained more clinical application and more attention. Preimplantation genetic diagnosis (PGD), is used to avoid genetic diseases obtained from parents. With the improving of the demand of higher implantation rate and live birth rate, preimplantation genetic screening (PGS) is brought up to avoid aneuploidy, which can lead to adverse pregnancy outcomes. With the widespread of the PGT, we have to get a comprehensive understanding of the technique, so as to help patients to solve the clinical problems. In this review, we retrospect the development of the biopsy techniques and the testing techniques of PGT within nearly 30 years, and summarize the different pregnancy outcomes of blastomere biopsy and trophectoderm cells biopsy to assess the security of PGT. In addition, we analyze the current problems of PGT, and discuss its prospect in the future.
作者 高畅 杨蕊 王颖 乔杰 Gao Chang;Yang Rui;Wang Ying;Qiao Jie(Reproductive Medical Center,Peking University Third Hospital,Beijing 100191,China)
出处 《中华生殖与避孕杂志》 CAS CSCD 北大核心 2019年第1期67-74,共8页 Chinese Journal of Reproduction and Contraception
基金 国家自然科学基金(81550022,81873833) 国家重点研发计划(2016YFC1000302,2018YFC1002104).
关键词 植入前遗传学检测 妊娠结局 检测技术 活检技术 Preimplantation genetic testing Pregnancy outcomes Testing technique Biopsy technique
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