摘要
探讨基于高通量测序技术的基因组拷贝数变异测序(CNV-Seq)在高龄孕妇产前诊断中的应用价值。对80例高龄孕妇行羊水穿刺,在对胎儿羊水细胞进行G显带染色体核型分析的同时利用高通量测序技术检测胎儿细胞基因组DNA,测序结果与人类参考基因组(GRCh37,UCSC release hg19)进行比对分析,然后通过ISCA、Decipher、Clinvar等数据库评估检测到的CNV致病性,进而比较G显带染色体核型分析与CNV-Seq结果间的差异。送检的80例羊水样本中CNV-Seq检测出21三体6例,18三体3例,性染色体非整倍体异常2例(1例是47,XXX,1例是47,XXY),这些结果与G显带染色体核型分析结果一致,CNV-Seq额外检出明确致病染色体微缺失2例,可能致病染色体微缺失1例,临床意义未明的染色体微缺失、微重复39例,染色体未发现微缺失、微重复例数27例,染色体异常检出率为17.5%,在染色体G显带核型分析结果基础上,致病性异常检出率额外增加了3.75%。CNV-Seq在高龄孕妇产前诊断中有良好的应用价值,该技术与G显带染色体核型分析联合应用能明显提高高龄孕妇染色体异常检出率。
To evaluate CNV-Seq based on high-throughput sequencing in prenatal diagnosis of elderly pregnant women.The genomic DNA of fetal amniotic fluid cells of 80 elderly pregnant women was detected by high-throughput sequencing technique while G-banding chromosome karyotype analysis was performed.The sequencing reads were precisely mapped using the human genome(GRCh37,UCSC release hg19)as a reference.Then,the pathogenicity of CNVs were interrogated in ISCA,Decipher,Clinvar and other databases.The differences between G-banded chromosome karyotype analysis and CNV-Seq results were compared.Of 80 amniotic fluid samples,6 cases of trisomy 21,3 cases of trisomy 18,2 cases with sex chromosomal numerical abnormality(47,XXX,47,XXY)were detected by CNV-Seq.The result was consistent with that of G-banding karyotype analysis.In addition,2 clearly pathogenic chromosome microdeletion,1 suspected pathogenic chromosome microdeletion,and 39 chromosome microdeletion and microduplication with unknown clinical significance were detected by CNV-Seq.There were 27 cases without chromosome microdeletion or microduplication.The detection rate of chromosomal abnormalities was 17.5%by CNV-Seq.On the basis of the results of G banding karyotype analysis,the detection rate of abnormalities increased by 3.75%.CNV-Seq has a good application value in prenatal diagnosis of elderly pregnant women.The combined application of CNV-Seq and G-banding chromosome karyotype analysis can significantly improve the detection rate of chromosome abnormalities in elderly pregnant women.
作者
汪菁
徐晶晶
陈玲
刘文
宋雅娴
胡月
彭亚琴
吴丽敏
公颜平
于婷
Wang Jing;Xu Jingjing;Chen Ling(Dept of Gynaecology and Obstetrics,The First Affiliated Hospital of USTC(Anhui Provincial Hospital),Hefei 230001)
出处
《安徽医科大学学报》
CAS
北大核心
2019年第10期1659-1662,共4页
Acta Universitatis Medicinalis Anhui
基金
“科大新医学”联合基金项目(编号:WK9110000051)
中华国际科学交流基金会(编号:Z2019LAH003)
