Noninvasive preimplantation genetic testing in assisted reproductive technology: current state and future perspectives
Noninvasive preimplantation genetic testing in assisted reproductive technology: current state and future perspectives
复制标题
辅助生殖技术中的无创植入前基因检测：现状与未来展望
DOI：
10.1016/j.jgg.2020.11.007
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发表时间：
2020-12-20
影响因子：
5.9
通讯作者：
Zhang, Dan
中科院分区：
文献类型：
--
作者：
Li, Jingyi;Liu, Yifeng;Zhang, Dan
通过活组织检查滋养外胚层（TE）细胞对植入前胚胎进行侵入性遗传筛查已经使用了20多年，但其在选择整倍体胚胎方面的益处仍然存在争议。以类似于活检TE样品的方式处理来自囊胚腔液（BF）和囊胚用过的培养基（SCM）的胚胎无细胞DNA（cfDNA）的能力的最新进展提供了一种潜在的替代方案，该替代方案具有很大的希望，可用于获得胚胎的细胞遗传学信息，而无需传统的基于活检的植入前遗传学检测（PGT）的侵入性活检。几项研究已经报道了非侵入性PGT（ni-PGT）的诊断准确性甚至高于常规PGT。然而，在ni-PGT可以被接受为可靠的胚胎基因组信息源之前，仍有一些技术挑战需要克服。本文综述了镍-PGT的产生和研究现状，并对其局限性和未来的前景提出了自己的看法。要真正实现ni-PGT的广泛临床应用还有很长的路要走。中国科学院遗传与发育生物学研究所版权所有（C）2021由爱思唯尔有限公司和科学出版社出版。All rights reserved.
Invasive genetic screening of pre-implantation embryos via biopsied trophectoderm (TE) cells has been in use for more than 20 years, while its benefits in selecting euploid embryos remain controversial. Recent advances in the ability to process embryonic cell-free DNA (cfDNA) from blastocoel fluid (BF) and spent culture media (SCM) of blastocysts in a manner similar to that of a biopsied TE sample provide a potential alternative holding great promise for obtaining cytogenetic information of the embryos without intrusive biopsy of traditional biopsy-based pre-implantation genetic testing (PGT). Several studies have reported even higher diagnostic accuracy in non-invasive PGT (ni-PGT) than conventional PGT. However, there are still several technical challenges to be overcome before ni-PGT can be accepted as a reliable genomic information source of embryo. In this review, we have summarized the emergence and current state of ni-PGT, and discussed our own perspectives on their limitations and future prospect. There is still a long way to go before truly wide clinical application of ni-PGT. Copyright (C) 2021, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Limited and Science Press. All rights reserved.