摘要
目的应用拷贝数变异测序(CNV-Seq)技术分析先天性心脏病胎儿基因组拷贝数变异(CNV),初步探讨CNV-Seq技术在胎儿先天性心脏病产前遗传学诊断中的应用价值。方法选取2017年1月至2017年12月在广西柳州市妇幼保健院的87例经产前超声诊断为胎儿先天性心脏病的孕妇,行介入性产前诊断,同时进行传统染色体核型分析及CNV-Seq技术分析,相关的CNV到相应的数据库查找,分析CNV表型与基因型的关系。结果两种检查方法共检出染色体畸变18例,检出率为20.7%;其中传统染色体核型分析检出率为12.6%,CNV-Seq技术检出率为17.2%,传统染色体核型分析正常但CNV异常有8例,占9.2%,CNV-Seq技术额外检出了9.2%的染色体畸变。结论染色体畸变是导致胎儿先天性心脏病重要的遗传因素,应用CNV-Seq技术可检测与识别胎儿先天性心脏病亚显微结构的染色体畸变,能发现新的潜在的致病CNV,可作为传统染色体核型分析有效的补充手段。
Objective To analyze the copy number variation(CNV)of fetal genome in congenital heart disease(CHD)by using copy number variation sequencing(CNV Seq),and to explore the application value of CNV SEQ in prenatal genetic diagnosis of CHD.Methods A total of 87 pregnant women with fetal congenital heart disease diagnosed by prenatal ultrasound in Liuzhou Maternal and Child Health Care Hospital of Guangxi Province from January 2017 to December 2017 were selected for interventional prenatal diagnosis.At the same time,traditional karyotype analysis and CNV SEQ technology analysis were carried out.The related CNV was searched in the corresponding database to analyze the relationship between CNV phenotype and genotype.Results 18 cases of the chromosomal aberrations were detected,the detection rate was 20.7%,among which 12.6%(11/87)were detected by traditional karyotype analysis,17.2%(15/87)by CNV SEQ technology,8 cases(9.2%)showed normal by traditional karyotype analysis while,it showed abnormal by CNV-seq.Conclusion CNV-seq technology can be used to detect and recognize the chromosomal aberration of fetal CHD submicroscopic structure,find new potential pathogenic CNV,and can be used as an effective complementary means of traditional karyotype analysis.
作者
邓新娥
黄杏玲
王远流
刘百灵
唐宁
黄际卫
DENG Xin′e;HUANG Xingling;WANG Yuanliu;LIU Bailing;TANG Ning;HUANG Jiwei(Department of perinatal health care,Liuzhou Maternal and Child Health-Care Hospital,Guangxi 545001,China)
出处
《中国生育健康杂志》
2020年第2期137-142,共6页
Chinese Journal of Reproductive Health
基金
广西壮族自治区卫生与计划生育委员会自筹课题(Z20170545)
广西科学研究与技术开发计划项目(1598011-8)
柳州市科学研究与技术开发计划项目(2016G020219)。
关键词
产前诊断
先天性心脏病
二代测序
拷贝数变异
prenatal diagnosis
congenital heart disease
next generation sequencing
copy number variation
作者简介
通讯作者:王远流,lzwyl2006@163.com。
