摘要
目的探讨应用二代测序技术在羊水检测21、18、13等常见染色体异常外,检出微缺失/微重复拷贝数变异,并对病例进行追踪随访,为产前诊断的应用提供参考数据及遗传咨询资料。方法对2020年1月至2021年12月在南宁市妇幼保健院进行羊水穿刺检测的高危孕妇2817例孕妇的羊水样本进行细胞染色体核型及二代测序技术CNV-seq检测分析,比较两者结果,并对病例进行跟踪随访。结果染色体核型分析异常核型检出率为4.86%,CNV-seq检出率为8.34%。对2548例孕妇进行妊娠结局随访,妊娠中后期超声提示胎儿畸形13例(其中CNV-seq异常结果9例),早产16例(CNV-seq异常结果1例)。CNV-seq异常结果检测率明显高于染色体核型分析。结论二代测序技术检测在胎儿羊水检测中具有高通量、高准确、速度快、敏感性高、精准等优点,在羊水检测诊断临床应用中,与染色体核型分析互补,并通过随访记录,为产前诊断的临床应用提供有效数据支持。
Objective To investigate the use of the second generation sequencing technology to detect microdeletions/microduplications copy number variation in amniotic fluid beyond the detection of 21,18,13 common chromosome abnormality,and to follow up the cases,to provide reference data and genetic counseling for the application of prenatal diagnosis.Methods The karyotype and the second generation sequencing CNV-seq of amniotic fluid from 2817 cases of high risk pregnant women who underwent amniocentesis in Nanning Maternity and Health Hospital from January 2020 to December 2021 were analyzed,and the results were compared,the cases were followed up.Results The detection rate of abnormal karyotype was 4.86%,and that of CNV-seq was 8.34%.All the 2548 cases of pregnant women were followed up,13 cases of fetal malformation(including 9 cases of abnormal results of CNV-seq),and 16 cases of premature delivery(1 case of abnormal results of CNV-seq)detected by ultrasonography during the second and third trimester of pregnancy.The detection rate of abnormal results of CNV-seq was higher than that of chromosome.Conclusion The second generation sequencing technology has the advantages of high throughput,high accuracy,high speed,high sensitivity and precision in the detection of fetal amniotic fluid,which provides effective data support for clinical application of prenatal diagnosis.
作者
蒙燕
黄永全
卢秀华
曾革
李红
刘开敏
沈寅琛
MENG Yan;HUANG Yongquan;LU Xiuhua;ZENG Ge;LI Hong;LIU Kaimin;SHEN Yinchen(Department of Maternal and Child Health Care,Nanning Maternity and Health Hospital,Guangxi Zhuang AutonomousRegion,Nanning 530012,China)
出处
《妇儿健康导刊》
2022年第10期84-87,共4页
JOURNAL OF WOMEN AND CHILDREN'S HEALTH GUIDE
基金
广西壮族自治区卫生健康委员会自筹经费科研课题(Z20201220)。
关键词
羊水检测诊断
二代测序技术
染色体核型分析
随访
Detection and diagnosis of amniotic fluid
The second generation sequencing technology
Chromosome karyotype analysis
Follow-up
