摘要
目的探讨基于下一代测序(NGS)技术的全基因组拷贝数变异测序(CNV-seq)在孕妇产前诊断中的应用价值。方法选取384例因血清唐氏筛查高风险、无创结果高风险、高龄等选择羊水穿刺的孕妇羊水标本作为研究对象,进行全基因组拷贝数变异测序结果分析。结果全基因组拷贝数变异测序检出染色体数目异常72例,占18.75%;致病性CNV9例,占2.34%;临床意义不明CNV13例,占3.39%;多态性CNV22例,占5.73%。致病性染色体异常检出率21.09%。结论全基因组拷贝数变异测序能检测出100Kb以上已知的、明确致病的基因组拷贝数变异,提高孕妇产前诊断染色体异常检出率,减少新生儿出生缺陷。
Objective:To explore the clinical application of copy number variation sequencing(CNV-seq)in prenatal diagnosis.Methods:Copy number variation sequencing were performed in 384 invasive fetus samples due to high risk of Down’s screening,abnormal non-invasive results and elderly pregnancy.Results:Of them,the numerical chromosome abnormalities were detected in 72(18.75%),following by 9 cases of chromosome pathogenic CNV(2.34%),13 cases of various clinical unambiguous significances CNV(3.39%),and 22 cases of polymorphic changes CNV(5.73%).The pathological CNV were detected in 81 cases(21.09%).Conclusions:Copy number variation sequencing could detect the CNV that was larger than 100kb and known pathogenic,and could enhance the detection rate of chromosomal abnormalities and reduce neonatal birth defects.
作者
张池
胡晞江
刘翎
向萍霞
宁丽芳
余宏盛
黄会
ZHANG Chi;HU Xijiang;LIU Ling;XIANG Ping-xia;NING Li-fang;YU Hong-sheng;HUANG Hui(Eugenic Genetic Laboratory,Wuhan Children's Hospital(Wuhan Maternal and Child Healthcare Hospital),Tongji Medical College,Huazhong University of Science&Technology,Wuhan 430016,China)
出处
《中国优生与遗传杂志》
2020年第11期1307-1308,共2页
Chinese Journal of Birth Health & Heredity
关键词
产前诊断
全基因组拷贝数变异测序
染色体异常
Prenatal diagnosis
Copy number variation sequencing
Chromosomal abnormality
