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胚胎植入前非整倍体基因检测:嵌合胚胎的管理

Preimplantation genetic testing for aneuploidy: The management of mosaic embryos.

作者信息

Yu Eun Jeong, Kim Min Jee, Park Eun A, Kang Inn Soo

机构信息

Department of Obstetrics and Gynecology, CHA Fertility Center Seoul Station, CHA University School of Medicine, Seoul, Republic of Korea.

Department of Biomedical Sciences, College of Life Sciences, CHA University, Seongnam, Republic of Korea.

出版信息

Clin Exp Reprod Med. 2022 Sep;49(3):159-167. doi: 10.5653/cerm.2022.05393. Epub 2022 Aug 31.

Abstract

As the resolution and accuracy of diagnostic techniques for preimplantation genetic testing for aneuploidy (PGT-A) are improving, more mosaic embryos are being identified. Several studies have provided evidence that mosaic embryos have reproductive potential for implantation and healthy live birth. Notably, mosaic embryos with less than 50% aneuploidy have yielded a live birth rate similar to euploid embryos. This concept has led to a major shift in current PGT-A practice, but further evidence and theoretically relevant data are required. Proper guidelines for selecting mosaic embryos suitable for transfer will reduce the number of discarded embryos and increase the chances of successful embryo transfer. We present an updated review of clinical outcomes and practice recommendations for the transfer of mosaic embryos using PGT-A.

摘要

随着用于非整倍体胚胎植入前基因检测(PGT-A)的诊断技术的分辨率和准确性不断提高,越来越多的嵌合胚胎被识别出来。多项研究已提供证据表明,嵌合胚胎具有植入和健康活产的生殖潜力。值得注意的是,非整倍体率低于50%的嵌合胚胎产生的活产率与整倍体胚胎相似。这一概念已导致当前PGT-A实践发生重大转变,但仍需要进一步的证据和理论相关数据。选择适合移植的嵌合胚胎的适当指南将减少丢弃胚胎的数量,并增加胚胎移植成功的机会。我们对使用PGT-A移植嵌合胚胎的临床结果和实践建议进行了最新综述。

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