高通量测序技术与传统染色体核型分析技术在胎儿畸形染色体分析中的比较

The comparison of the high-throughput sequencing technology and the conventional karyotyping technology in chromosome analysis of fetal malformation

目的比较高通量测序技术与传统染色体核型分析技术在胎儿畸形染色体诊断中的应用价值。方法回顾性分析28例产前诊断胎儿畸形病例,经腹胎儿脐带穿刺取样同时进行传统染色体核型分析及高通量测序技术分析。结果高通量测序技术异常核型检出率为82.1%(23/28),传统染色体核型分析技术异常核型检出率为7.2%(2/28),高通量测序技术检测出的染色体微缺失及微重复样本解读与畸形一致性较低。结论在胎儿畸形染色体诊断中传统染色体核型分析技术有局限性,高通量测序技术分析结果中异常片段样本解读与胎儿畸形相关性不强。

Objective：Comparison of the high-throughput sequencing technology and conventional karyotyping technology analysis application value in chromosome analysis of fetal malformation. Methods：A retrospective analysis of 28 cases of prenatal diagnosis of fetal malformation. Transabdominal fetal umbilical cord puncture sampling at the same time carry out an analysis of the high-throughput sequencing technology and conventional karyotyping technology.Results：The abnormal karyotyping detection rate of the high-throughput sequencing technology was 82.1%（23/28）,the abnormal karyotyping detection rate of conventional karyotyping technology was 7.2%（2/28）. Detection of high-throughput sequecing technology chromosome microdeletion and microrepeated sample interpretation and malformation of lower consistency. Conclusions：The abnormal fetal chromosomal karyotyping analysis in the traditional diagnostic techniques had limitations,The correlation of abnormal fragments of highthroughput sequencing analysis results of sample interpretation with fetal malformation was not strong.