染色体拷贝数变异测序（CNV-seq）对稽留流产绒毛组织的病因学检查分析 [中文引用][英文引用]

目的 探讨染色体拷贝数变异测序（copy number varaition sequencing,CNV-seq）在稽留流产绒毛组织检测染色体畸变的价值，明确流产病因。方法 选取哈尔滨市红十字中心医院妇产科门诊诊断早期稽留流产 224例患者自愿接受流产病因学检测，进行检测前咨询，告知CNV-seq技术检测目的及意义，行人工流产时留取绒毛组织送检行CNV-seq。结果 224例流产组织CNV-seq检测成功率100%，检出染色体畸变114例，阳性检出率为51%，其中数目异常71例，包括特纳综合征20例、16-三体19例、22-三体7例、21-三体6例、3-三体3例、14-三体2例、4-三体2例、20-三体1例、18-三体1例、15-三体1例、8-三体1例、三倍体8例，其他染色体畸变包括嵌合体、微缺失/微重复（多态性和致病性不明确）43例。结论 CNV-seq诊断稽留流产病因染色体畸变，其特异性较高，胚胎染色体非整倍体是导致早期胚胎停止发育流产的重要原因，CNV-seq在稽留流产染色体异常和拷贝数变异具有较好的临床应用价值，明确流产的遗传学病因，为再次妊娠提供指导有重要意义。

Objective To investigate the value of chromosome copy number variation sequencing (CNV-seq) in detecting chromosomal aberrations in the villus tissue and to clarify the cause of missed abortion. Methods Collect 224 patients with early missed chromosomal aberrations abortion and accepted voluntarily to detect the etiology. Before the test, the purpose and significance of CNV-seq were informed. The aborted villus tissues were taken and were performed by CNV-seq. Results The success rate of CNV-seq detection in 224 abortion tissues was 100%, and 114 cases of chromosome aberrations were detected. The positive rate was 51%, including 71 cases with abnormal chromosome number, including 20 cases of Turner syndrome, 19 cases of trisomy 16, 7 cases of trisomy 22, 6 cases of trisomy 21, 3 cases of trisomy 3, 2 cases of trisomy 14, 2 cases of trisomy 4, 1 case of trisomy 20, 1 case of trisomy 18, 1 case of trisomy 15, 1 case of trisomy 8, 8 cases of triploid, and 43 cases of other chromosome aberrations including chimera, micro-deletion / micro-repetition (polymorphism and pathogenicity is not clear). Conclusions Diagnosis of missed abortion for the chromosomal aberrations by CNV-seq is high specificity. Embryonic chromosome aneuploidy is an important cause of early embryonic abortion. CNV-seq has better clinical application value in detecting abnormal chromosomal and copy number variation in missed abortion, and it is significant to identify the etiology of abortion, and provide guidance for re-pregnancy.