植入前胚胎非整倍体筛查的临床应用研究进展  

Advances in study on clinical application of pre-implantation genetic screening

作　　者：隋宜伦[1] 孙晓溪[1,2,3] 

机构地区：[1]复旦大学附属妇产科医院,上海200011 [2]上海集爱遗传与不育诊疗中心,上海200011 [3]上海市女性生殖内分泌相关疾病重点实验室,上海200011

出　　处：《生殖与避孕》2015年第2期114-120,共7页Reproduction and Contraception

摘　　要：研究证明基于囊胚期活检和全基因组分析技术的"第二代植入前遗传学筛查(PGS)"可以显著提高IVF治疗的临床结局。目前认为囊胚期活检是PGS活检的最佳时间,也是第二代PGS采用的活检方法。具体为通过单细胞全基因组扩增技术使样本达到可检测的量,再利用微阵列技术、高通量测序技术完成全基因组检测。除了技术方面的改进,第二代PGS还应在适用人群的选择方面综合考虑不孕者胚胎非整倍体的发生率和可用于移植的囊胚数2个方面,PGS的最适宜人群应该是排除了内膜因素的影响后其染色体异常发生率较高、同时可移植胚胎数较多者。A series of studies have shown that the new generation of PGS（PGS#2）, based on blastocyst biopsy followed by whole genome analysis, significantly improves the clinical outcome of IVF treatment. At present the blastocyst stage is the optimal time to perform biopsies for preimplantation genetic testing, and is adopted by PGS#2. Whole genome amplification of single cell is performed to obtain adequate embryo DNA, after which either array or next generation sequencing is employed for genetic screening. Besides the technical advances, the prevalence of aneuploidy and the number of transplantable blastocysts should also be taken into consideration when applying PGS#2. The most suitable population for PGS#2 should be women with endometrium factor ruled out,meanwhile with chromosome abnormalities in high prevalence and blastocyst transplantable in plenty.

关 键 词：植入前遗传学筛查(PGS) 第二代PGS 胚胎活检 全基因组检测 

分 类 号：R714.8[医药卫生—妇产科学]