拷贝数变异测序在染色体易位夫妇植入前遗传学诊断中的临床应用

Clinical application of high-throughput sequencing technology in pre-implantation genetic diagnosis for chromosomal translocations

目的探讨拷贝数变异测序(copy number variation sequencing,CNV-seq)用于染色体易位夫妇胚胎植入前诊断的应用价值。方法回顾性分析2017年1月至2018年12月,在广东省妇幼保健院生殖健康与不孕症科进行植入前遗传学诊断(preimplantation genetic diagnosis,PGD)的211对染色体易位夫妇患者的临床病例。使用CNV-seq对胚胎染色体进行检测,并对患者一般信息和PGD结果进行分析。结果1210个胚胎中,被检出837个(79.2%)胚胎存在染色体异常,373个(30.8%)胚胎为整倍体。在241个PGD周期中,68个(27.6%)周期所有胚胎均存在染色体异常,178个(72.4%)周期至少含有一个整倍体胚胎。在176个移植周期中,130个(73.9%)确定临床妊娠,已出生46个健康婴儿,12例发生早期流产。结论CNV-seq可准确地区分胚胎染色体是否存在异常,避免因胚胎含有染色体异常而被移植,是一种可靠而准确的PGD技术。

Objective To explore the application value of copy number variation sequencing(CNV-seq)in preimplantation diagnosis(PGD)of chromosomal translocation couples.Methods The clinical cases of 211 pairs of chromosomal translocation couples presented for PGD were analyzed retrospectively,from January 2017 to December 2018.CNV-seq was used to detect the chromosome of embryo,and the general information of patients and PGD results were analyzed.Results Among the 1210 embryos,837 cases(79.2%)were found to have chromosomal abnormalities,and 373 cases(30.8%)were aneuploid.In 241 PGD cycles,68 cycles(27.6%)had chromosomal abnormalities,178 cycles(72.4%)had at least one aneuploid embryo.In 176 transplantation cycles,130 pregnant women(73.9%)confirmed clinical pregnancy,46 healthy infants had been born,and 12 cases had early abortion.Conclusion CNV-seq is a reliable and accurate PGD technology,which can distinguish the chromosomal abnormalities of embryos clearly and avoid the transplantation of embryos containing chromosomal abnormalities.