CNV-seq联合染色体G显带核型分析在唐氏综合征产前诊断中的应用价值  

Application value of CNV-seq combined with chromosome G-banding karyotype analysis in prenatal screening of Down syndrome

作　　者：蒋丽[1] 汪菁 江蓓蕾 JIANG Li;WANG Jing;JIANG Bei-lei(Department of Gynecology and Obstetrics,the People's Hospital of Bozhou,Bozhou Anhui 236800,China;Department of Obstetrics,the First Affiliated Hospital of University of Science and Technology of China(Anhui Provincial Hospital),Hefei Anhui 230001,China;Prenatal Diagnosis Center,Hefei Binhu Hospital,Hefei Anhui 230001,China)

机构地区：[1]亳州市人民医院妇产科,安徽亳州236800 [2]中国科学技术大学附属第一医院(安徽省立医院)产科,安徽合肥230001 [3]合肥市滨湖医院产前诊断中心,安徽合肥230001

出　　处：《临床和实验医学杂志》2023年第1期62-66,共5页Journal of Clinical and Experimental Medicine

基　　金：安徽省卫生厅科研课题(编号:17HA01286)。

摘　　要：目的 通过联合使用低深度全基因组测序(CNV-seq)技术与染色体G显带核型分析技术检测孕妇羊水中胎儿脱落细胞,评估2种检测技术在唐氏综合征产前诊断中联合应用的意义。方法 以2018年7月至2022年7月在亳州市人民医院经无创产前基因检测显示为高风险的60例孕妇为研究对象,通过抽取羊水获得胎儿样本60份,同时对胎儿样本进行CNV-seq检测和染色体G显带核型分析,统计检测结果,比较分析CNV-seq检测、染色体G显带核型分析、CNV-seq联合染色体G显带核型分析检测结果。结果 60份羊水样本CNV-seq检测和染色体G显带核型分析成功率均为100%。(1)CNV-seq检测、染色体G显带核型分析、CNV-seq联合染色体G显带核型分析检测出21三体、18三体及13三体的异常检出率一致,分别为70.6%、60.0%、25.0%。(2)其他类型染色体的异常检出率排序为染色体G显带核型分析(41.9%)<CNV-seq检测(51.6%)<CNV-seq+染色体G显带核型分析(58.1%)。(3)染色体G显带核型分析(50.0%)<CNV-seq检测(55.0%)<CNV-seq+染色体G显带核型分析(58.3%)。结论 染色体G显带核型分析为细胞遗传学诊断的金标准,CNV-seq检测可以很好的弥补染色体G显带核型分析的不足,二者各有优势,互为补充,联合应用可有效提高唐氏综合征产前诊断阳性检出率。Objective To evaluate the significance of combined application of low depth whole genome sequencing(CNV SEQ)and chromosome G-banding karyotype analysis in prenatal diagnosis,fetal exfoliated cells in amniotic fluid of pregnant women were detected.Methods Sixty pregnant women who were found to be at high risk by non-invasive prenatal testing in the People’s Hospital of Bozhou from July 2018 to July 2022 were studied.Sixty fetal samples were obtained by extracting amniotic fluid.At the same time,the fetal samples were tested by CNV SEQ and G-banding karyotype analysis.The results of CNV seq,G-banding karyotype analysis and CNV SEQ combined with G-banding karyotype analysis were compared and analyzed.Results The success rates of CNV-seq detection and chromosome G-banding karyotype analysis of 60 amniotic fluid samples were both 100%.(1)The abnormal detection rates of trisomy 21,trisomy 18 and trisomy 13 detected by CNV-seq detection,chromosome G-banding karyotype analysis,and CNV-seq combined with chromosome G-banding karyotype analysis were consistent,respectively 70.6%,60.0%,25.0%.(2)The abnormal detection rate of other types of chromosomes was ranked as chromosome G-banding karyotype analysis(41.9%)<CNV-seq detection(51.6%)<CNV-seq+chromosome G-banding ka/otype analysis(58.1%)-(3)Chromosome G-banded ka/otype analysis(50.0%)<CNV-seq detection(55.0%)<CNV-seq+chromosome G-banded ka/otype analysis(58.3%)-Conclusion G-banding ka/otype analysis R the gold standard for cytogenetic diagnosis.CNV SEQ can make up for the deficiency of G-banding ka/otype analysis.The Co complement each oEer-The combined application can efectively improve the positive detection rate of penawl diagnosis of Down syndrome.

关 键 词：唐氏综合征 CNV-seq 染色体G显带核型分析 应用价值 

分 类 号：R714.5[医药卫生—妇产科学]