高通量测序技术在流产物遗传学检测中的应用 [中文引用][英文引用]

目的 探讨自然妊娠流产组织染色体异常情况，以及高通量测序技术胚胎停育中的应用价值。方法 采用高通量测序技术对97例胚胎停育样本进行染色体拷贝数变异（copy number variations，CNV）的检测，用相应软件对测序结果进行分析，并将检测数据与基因变异数据库( database of genomic variants，DGV) 、人类染色体变异数据库( database of chromosomal imbalance and phenotype in humans using ensembl resources，DECIPHER) 和在线人类孟德尔遗传数据库( online Mendelian inheritance in man，OMIM)进行比对，确定CNVs类型及临床意义。结果 97 例标本93例成功检测获得高通量测序结果，测序检出率95.88%，检测出染色体数目异常47例，拷贝数变异23 例，其中5例为致病性变异，18例为多态或致病意义不明。结论 染色体异常是胚胎停育的最重要原因，高通量测序技术可以快速准确的检测出常规染色体异常，同时能够检测出常规染色体核型分析无法发现的致病性微失衡，推荐临床上使用对流产物进行测序技术检测查找流产原因。

Objective To investigate the application of NGS in spontaneous abortion. Methods NGS were performed to detect for genome-wide copy number variations(CNVs) in 97 fetuses with spontaneous abortion .All identified CNVs were analyzed with the references from database of Genomic of variant(DGV), database of DECIPHER、ISCA and OMIM. Results 93 of 97specimens could be successfully detected. We identified clinically significant chromosomal aberrations in 54.73% of tested fetuses(52/95).Among them,47 aneuploids and 5 abnormal CNVs were identified. Conclusions The main causes of spontaneous abortion are chromosome aberrations. NGS is a fast and effective method to detect the samples from spontaneous abortion. This technology is recommended to be applied to clinical.