四川地区先天性心脏病胎儿产前遗传学诊断策略  

Strategy of prenatal genetics diagnosis in fetuses with congenital heart disease in Sichuan area

作　　者：陈林 党彩玲[3] 魏星[1,2] 王婧 CHEN Lin;DANG Cailing;WEI Xing;WANG Jing(Medical Genetics Department/Prenatal Diagnosis Center,West China Second Hospital of Sichuan University,Ministry of Education,Chengdu 610041;Key Laboratory of Birth Defects and Related Diseases of Women and Children,West China Second Hospital of Sichuan University,Ministry of Education,Chengdu 610041;Obstetrics and Gynecology Department,Yibin Second People's Hospital,Yibin 644000,China)

机构地区：[1]四川大学华西第二医院医学遗传科/产前诊断中心,四川成都610041 [2]四川大学华西第二医院出生缺陷与相关妇儿疾病教育部重点实验室,四川成都610041 [3]宜宾市第二人民医院妇产科,四川宜宾644000

出　　处：《临床医学研究与实践》2021年第32期149-151,161,共4页Clinical Research and Practice

基　　金：四川省科学技术厅重点研发项目(NO.2020YFS0095)。

摘　　要：目的初步了解四川地区先天性心脏病(CHD)胎儿产前遗传学病因,探索适合本地区CHD胎儿的产前遗传学诊断策略。方法选取2020年4月至2020年12月因孕期胎儿超声心动图发现胎儿心脏结构异常并于我院行羊膜腔穿刺产前诊断的104例患者,采用染色体微阵列分析(CMA)或低深度全基因组测序(CNVseq)对羊水样本进行拷贝数变异检测,如拷贝数变异检测结果未见明显异常,则进一步采用目标序列捕获高通量测序分析对样本进行与CHD表型相关的基因检测。结果104例CHD胎儿中,4例(3.8%)存在染色体异常,分别是3例21三体及1例18三体。通过对剩余100例染色体正常的羊水样本进行目标序列捕获高通量测序分析,发现6例(6.0%)样本存在具有临床意义的基因变异。结论染色体异常及基因异常均为CHD胎儿重要的致病因素,建议对产前发现的CHD胎儿及时进行全面的遗传学检测,有助于产前管理及优化产后结局。Objective To understand the genetics etiology of fetuses with congenital heart disease(CHD)in Sichuan area and explore the strategy of prenatal genetics diagnosis suitable for CHD fetuses in this area.Methods From April 2020 to December 2020,104 patients with abnormal fetal heart structure found by echocardiography during pregnancy were selected for amniocentesis in our hospital.The copy number variation of amniotic fluid samples was detected by chromosome microarray analysis(CMA)or low-depth whole genome sequencing(CNVseq).If there was no clear pathogenic copy number variation in the amniotic fluid sample,the target sequence capture and high-throughput sequencing analysis was further used to analyze the CHD related genes.Results Among 104 CHD fetuses,4 samples(3.8%)had chromosome abnormalities,including trisomy 21 in 3 cases and trisomy 18 in 1 case.Through the target sequence capture and high-throughput sequencing analysis of the remaining 100 amniotic fluid samples with normal chromosomes,it was found that there were clinically significant variations in 6 samples(6.0%).Conclusion Chromosomal and genetic abnormalities are important causes of CHD.It is suggested that timely and comprehensive genetic testing should be carried out for the fetuses with CHD,which is helpful to the prenatal management and the optimization of postpartum outcome.

关 键 词：先天性心脏病 胎儿 产前诊断 染色体疾病 单基因病 捕获 二代测序 

分 类 号：R714.5[医药卫生—妇产科学]