植入前胚胎非整倍体筛查的临床应用研究进展

发布时间：2018-05-26 07:32

本文选题：植入前遗传学筛查(PGS) + 第二代PGS　；参考：《生殖与避孕》2015年02期

【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。
[Abstract]:It has been proved that the second generation preimplantation genetic screening based on blastocyst biopsy and whole genome analysis can significantly improve the clinical outcome of IVF therapy. Currently, blastocyst stage biopsy is considered to be the best time for PGS biopsy and the second generation PGS biopsy method. In particular, the whole genome can be detected by single-cell whole genome amplification technology, and then complete the whole genome detection by using microarray technology and high-throughput sequencing technology. In addition to technical improvements, The second generation of PGS should also take into account the incidence of aneuploidy in infertile embryos and the number of blastocysts available for transplantation. The most suitable population for PGS should be to exclude the influence of endometrial factors. The incidence of chromophore abnormality was higher, More embryos could be transferred at the same time.
【作者单位】：复旦大学附属妇产科医院;上海集爱遗传与不育诊疗中心;上海市女性生殖内分泌相关疾病重点实验室;
【分类号】：R714.8

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