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。 Studies have demonstrated that the “Second Generation Pre-implantation Genetic Screening” (PGS) based on blastocyst biopsy and genome-wide analysis can significantly improve the clinical outcomes of IVF treatment. Currently considered blastocyst biopsy is the best time for PGS biopsy, but also the biopsy method used in the second generation of PGS. Specifically through the single-cell genome-wide amplification of the sample to achieve a detectable amount, then the use of microarray technology, high-throughput sequencing technology to complete genome-wide detection. In addition to technical improvements, the second generation of PGS should consider the incidence of embryo aneuploidy and the number of blastocysts available for transplantation in terms of the choice of population. The most suitable population for PGS should be Excluding the impact of endometrial factors, the higher the incidence of chromosomal abnormalities, while the number of transplanted embryos are more.