摘要
目的探讨高通量测序技术在孕早期自然流产绒毛染色体检测中的应用。方法运用高通量测序技术对520例孕早期自然流产绒毛进行分析。结果检出异常绒毛染色体319例,包括295例染色体非整倍体和24例致病性染色体拷贝数变异,异常率为61.3%。常见的异常类型为常染色体三体(包括嵌合型)(64.6%),三倍体(10.7%),X单体(8.8%),致病性染色体拷贝数变异(7.5%)。结论绒毛染色体异常是导致孕早期自然流产的主要原因,异常率高达61.3%。高通量测序法检出率高,可检出染色体拷贝数变异,是检测孕早期自然流产绒毛染色体的有效方法。应重视流产绒毛染色体检测,以明确流产原因,指导下次妊娠。
【Objective】To explore the application of high throughput sequencing in detecting villus chromosomes in early spontaneous abortion.【Methods】Villus chromosomes were analyzed by high throughput sequencing in 520 early spontaneous abortion cases.【Results】A total of 319 cases(61.3%)with chromosomal abnormalities were identified,including 295 cases of aneuploidy and 24 cases of pathogenic chromosome copy number variations.The common types of abnormalities were autosomal trisomy(64.6%),triploid(10.7%),X monosomy(8.8%)and pathogenic chromosome copy number variations(7.5%).【Conclusion】Villus chromosome abnormality is the main cause of spontaneous abortion in early pregnancy,and the abnormal rate is as high as 61.3%.High throughput sequencing is an effective method to detect villus chromosome abnormality in early spontaneous abortion as it has a high detection rate and can detect chromosome copy number variations.More attention should be paid to the analysis of villus chromosomes in order to identify the genetic cause of spontaneous abortion,as well as genetic counseling for next pregnancy.
作者
张华
杨黎明
袁路
刘敏
张富青
ZHANG Hua;YANG Liming;YUAN Lu;LIU Min;ZHANG Fuqing(Reproductive Genetics,Women&Infants Hospital of Zhengzhou,Zhengzhou,Henan 450012,China)
出处
《中国医学工程》
2020年第10期10-14,共5页
China Medical Engineering
关键词
高通量测序
绒毛染色体
自然流产
high throughput sequencing
villus chromosome
spontaneous abortion
作者简介
通信作者:张富青,E-mail:ffsh@163.com,Tel:13838399088。
