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中华产科急救电子杂志 ›› 2019, Vol. 08 ›› Issue (03) : 161 -164. doi: 10.3877/cma.j.issn.2095-3259.2019.03.008

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胚胎植入前基因检测的研究进展
黄荣业1, 郑剑兰2,()   
  1. 1. Gleneagles Medini Hospital IVF CENTER. No. 2, Jalan Medini Utara 4, Medini Iskandar 79250 Iskandar Puteri, Johor Darul Takzim, Malaysia
    2. 361003 厦门大学附属成功医院,解放军陆军第七十三集团军医院妇产科
  • 收稿日期:2019-06-04 出版日期:2019-08-18
  • 通信作者: 郑剑兰

Research progress of pre-implantation genetic testing

Rongye Huang1, Jianlan Zheng2()   

  • Received:2019-06-04 Published:2019-08-18
  • Corresponding author: Jianlan Zheng
引用本文:

黄荣业, 郑剑兰. 胚胎植入前基因检测的研究进展[J/OL]. 中华产科急救电子杂志, 2019, 08(03): 161-164.

Rongye Huang, Jianlan Zheng. Research progress of pre-implantation genetic testing[J/OL]. Chinese Journal of Obstetric Emergency(Electronic Edition), 2019, 08(03): 161-164.

胚胎植入前基因检测(pre-implantation genetic testing, PGT)是辅助生殖领域的一种新方法,从染色体的单细胞筛查,发展到分子水平与特定基因序列检测(基因变异),实现了全染色体筛查(非整倍体)和分子水平筛查(从特定基因变异到整体筛查)。胚胎学研究发现嵌合体是普遍存在的,影响了胚胎的异常程度和决定胚胎是否移植。最新研究提出的使用人类胚胎培养液中游离DNA进行诊断的方法,对临床具有指导和参考价值。

Pre-implantation genetic testing (PGT) is a new method in the field of assisted reproduction. The evolution started with technology that enabled single-cell screening of chromosomes, and developed in resolution with molecular approaches, to the extent that specific genetic sequences (gene mutations) can be identified in such samples. Hence screening for whole chromosomes (aneuploidy) developed into molecular definitions (from specific mutations to entire screens) in embryos. However, embryology and its understanding, revealed that mosaicism of abnormal lineages is relatively common; this impacted on how abnormal these embryos are, and whether these embryos should be transferred. An even newer possibility is the use of cell-free DNA from human embryo spent culture media for diagnosis, and it will be a guiding and reference value for clinic practice.

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