孕早期流产物的高通量测序研究

Application of high-throughput sequencing technology for analying the abortion of the early pregnancy

目的探讨高通量测序技术在孕早期流产物检测中的应用价值。方法收集2014-02~2016-10在西安交通大学第二附属医院就诊的胚胎停止发育孕妇45例。取流产物组织,进行高通量测序及染色体核型分析。结果共收集到有效样本44例,高通量测序11例(25.00%)在检测范围内未检出已知致病性染色体畸变;19例(43.18%)染色体数目异常或嵌合体;14例(31.82%)染色体部分片段拷贝缺失或呈多态性。核型分析12例(27.27%)染色体数目异常或嵌合体。结论高通量测序技术对流产物的检出阳性率高于核型分析,尤其在染色体微缺失和微重复检出上有明显优势,可用于临床上不明原因流产的病因学检查。

Objective To explore the value of high-throughput sequencing technique in detection of the abortion of the early pregnancy. Methods Forty-five cases of abortion tissue from Second Affiliated Hospital of Xi＇an Jiaotong University from February 2014 to October 2016 were selected. The tissues of abortion were collected to perform high-throughput sequencing technology and chromosomal karyotypes analysis. Results A total of 44 cases of effective samples were collected. The results of high-throughput sequencing technology showed that 11 cases（25. 00%） were not found the known pathogenic chromosome aberration in the test range,and there were 19cases（43. 18%） of abnormal chromosome number or chimera and 14 cases（ 31. 82%） of chromosome fragment copies part missing or polymorphism. Twelve cases（27. 27%） of abnormal chromosome number or chimera were found by chromosomal karyotypes analysis.Conclusion The positive rate of abortion tissue by high-throughput sequencing technology is higher than that of chromosomal karyotype analysis,especially in chromosome micro-deletion and micro-duplication. High-throughput sequencing technology is recommended to be applied to clinical diagnosis of unknown reason abortion.