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目的采用第三代测序技术(NGS),对辅助生殖种植前的胚胎进行染色体非整倍性筛查,以提高移植胚胎的质量和试管婴儿的成功率。方法首先采用接受试管婴儿技术治疗不孕症的夫妇多余的正常囊胚进行方法学研究。采用多重置换扩增法扩增细胞基因组DNA。在此基础上对一对不孕症夫妇的囊胚进行检测,并指导囊胚选择。结果正常囊胚DNA抽提后,琼脂糖凝胶电泳显示扩增的DNA产物质量符合要求。文库构建后进行测序,数据结果显示为正常样本。在成功建立方法的基础上,选择的囊胚发育良好,成功孕育健康胎儿并导致健康婴儿出生。结论 NGS是一个可靠的胚胎染色体非整倍性筛查技术。该方法具有通量高、可自动化等优点,可以提高异常染色体的诊断水平。
Objective To use the third generation sequencing technology (NGS) to screen aneuploidy embryos before assisted reproduction to improve the quality of embryos transferred and the success rate of IVF. Methods Firstly, methodological studies were conducted on excess normal blastocysts of couples who had undergone IVF treatment of infertility. Multiplex amplification was used to amplify cellular genomic DNA. On this basis, a pair of infertile couples blastocysts were detected and guide blastocyst selection. Results After normal blastocyst DNA extraction, agarose gel electrophoresis showed that the quality of the amplified DNA was satisfactory. The library was sequenced after construction and the data showed normal samples. On the basis of the successful establishment of the method, the selected blastocysts develop well and successfully produce healthy fetuses and lead to the birth of healthy babies. Conclusion NGS is a reliable screening technique for embryonic chromosome aneuploidy. The method has the advantages of high flux, automation and the like, and can improve the diagnosis level of abnormal chromosomes.