国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2014, Vol. 33 ›› Issue (3): 197-200.

• 综述 • 上一篇    下一篇

胚胎植入前遗传学筛查的临床应用

张倩，郑叶，颜军昊   

  1. 250021山东大学附属省立医院生殖医学中心
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2014-05-15 发布日期:2014-05-15
  • 通讯作者: 颜军昊

Clinical Application of Preimplantation Genetic Screening

ZHANG Qian, ZHENG Ye, YAN Jun-hao.   

  1. Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan 250021, China
  • Received:1900-01-01 Revised:1900-01-01 Published:2014-05-15 Online:2014-05-15
  • Contact: YAN Jun-hao

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摘要： 随着辅助生殖技术和遗传学分析技术的发展，胚胎植入前遗传学筛查应用于胚胎染色体数目异常（非整倍体）检测，以期改善体外受精-胚胎移植的妊娠结局。新方法、新技术不断出现并应用于胚胎植入前遗传学筛查中，如囊胚期活检、比较基因组杂交技术、微阵列技术、第二代测序技术等，显著增加了诊断准确性，减少误诊风险。同时，胚胎植入前遗传学筛查的广泛应用也面临许多挑战。综述该领域的应用进展和面临的挑战。

关键词: 植入前诊断, 生殖技术, 辅助, 受精, 体外, 胚胎移植, 非整倍性, 囊胚, 核酸杂交, 微阵列分析, 序列分析, DNA, 嵌合体

Abstract: With the development of assisted reproductive technology and genetic analysis technology, the preimplantation genetic screening （PGS） is used to detect the numerical chromosomal abnormalities （aneuploid） in embryos, so as to improve pregnancy outcomes of in vitro fertilization-embryo transfer（IVF-ET）. New methods and technologies have been used in PGS, such as blastocyst stage biopsy, comparative genomic hybridization, microarrays and next generation sequencing, which increase the diagnose accuracy and decrease the risk of misdiagnosis. At the same time, PGS is also facing many challenges. The clinical application of PGS was reviewed in this article.

Key words: Preimplantation diagnosis, Reproductive techniques, assisted, Fertilization in vitro, Embryo transfer, Aneuploidy, Blastula, Nucleic acid hybridization, Microarray analysis, Sequence analysis, DNA, Chimera