应用高通量基因测序技术测定稽留流产胚胎染色体异常及临床意义

The application of batch gene sequencing technology on determining missed abortion embryonic chromosomal abnormalities and its clinical significance

目的:通过检测稽留流产绒毛组织染色体,判定流产与遗传因素的关系,为指导下一次妊娠提供依据。方法:应用高通量基因测序技术,对44例因稽留流产行清宫术的绒毛组织进行染色体检测,并以传统的染色体核型分析作为"金标准"进行对照评估,统计染色体异常的类型及所占比例。结果:44例稽留流产绒毛样本中,染色体异常28例,三体型23例,其中常染色体数目异常20例;性染色体数目异常3例;染色体缺失/重复3例;45X 2例。10例样本同时进行了绒毛组织培养染色体核型分析,有效样本9例,1例样本培养失败,其中染色体异常4例,1例检测为正常的样本经高通量基因测序技术检测为染色体18号重复10号长臂0.5 Mbp缺失。培养失败样本经高通量基因测序技术检测为23三体。结论:染色体异常是早期稽留流产的主要原因,高通量基因测序技术检测绒毛染色体具有高通量、快速、准确、全面的优点。有望成为稽留流产绒毛染色体检测的主要手段,有助于指导再次妊娠。

Objective To determine the relationship between abortion and genetic factors by detecting chromosomal missed abortion villi ,and to provide evidence to guide the next pregnancy. Method The high -throughput gene sequencing technology was used to detect 44 eases of missed abortion villi chromosome. The traditional karyotype analysis was adopted as the ＂golden standard＂ for the control assess- ment, to gather statistics of the types of chromosomal abnormalities and their proportions. Results Among the 44 cases of missed abortion villi chromosome, there were 28 cases of chromosomal abnormalities ,23 cases of trisomy. Among them there were 20 cases of abnormal num- ber of autosomes,3 cases of abnormal number of sex chromosomes,3 cases of missing/duplicate chromosomes ,2 cases of45X. Meanwhile, 10 eases were conducted villus tissue culture and karyotype analysis. There were 9 effective samples and 1 failure sample. Among them, there were 4 cases of chromosomal abnormalities, and 1 normal sample was determined as duplication of chromosome 18 and missing 10 long arm 0. 5Mbp by the high - throughput gene sequencing technology. The failure sample was determined as trisomy 23 by the high - through- put gene sequencing technology. Conclusion Chromosomal abnormalities are the main reasons of early missed abortion. The high - through- put gene sequencing technology on detection of villi chromosome is high - throughput, quick, accurate and comprehensive. It will become the main method on the detection of missed abortion villi chromosome, and to guide the next pregnancy.