摘要
目的 探讨基于下一代测序的基因组拷贝数分析(copy number variation sequencing,CNV-seq)技术在高龄孕妇产前诊断中的应用价值.方法 前瞻性分析我院自2017年2月至2017年10月单纯因高龄行羊水CNV-seq检测的样本的染色体检查结果.结果 共纳入1461例高龄孕妇羊水样本,致病性染色体异常样本检出率为2.3%(34/1461),其中<5 Mb者占所有致病性染色体异常样本的44.12%(15/34).结论 针对高龄孕妇,除染色体非整倍体外,医师有必要告知胎儿患所有染色体异常、包括亚显微结构异常的风险.同时,CNV-seq是一种分辨率高、准确、通量高而成本相对较低的染色体拷贝数变异检测手段.
Objective To assess the value of copy number variation analysis based on next generation sequencing(CNV-seq)in prenatal diagnosis for women at advanced maternal age.Methods A prospective analysis was carried out for women who underwent amniocentesis at 18~36 weeks of gestation for fetal CNV-seq for advanced maternal age.Results For 1461 unrelated Chinese women with a singleton pregnancy,CNV-seq was performed for all samples successfully.The proportion of chromosomal abnormalities was 2.3%(34/1461),of which 44.12%were submicroscopic copy number variations(<5 Mb).Conclusion Pregnant women at an advanced maternal age should be informed for not only common trisomies but all pathogenic chromosomal aberrations.NGS was a sensitive and accurate approach for detecting CNVs.
作者
王婧
陈林
周聪
王莉
谢寒冰
肖园园
朱红梅
胡婷
张竹
祝茜
陈新莲
刘之英
刘珊玲
王和
刘洪倩
Wang Jing;Chen Lin;Zhou Cong;Wang Li;Xie Hanbing;Xiao Yuanyuan;Zhu Hongmei;Hu Ting;Zhang Zhu;Zhu Qian;Chen Xinlian;Liu Zhiying;Liu Shanlin;Wang He;Liu Hongqian(Department of Obstetrics and Gynecology,Key Laboratory of Birth Defects and Related Diseases of Women and Children,Ministry of Education,West China Second Hospital of Sichuan University,Chengdu,Sichuan 610041,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第6期533-537,共5页
Chinese Journal of Medical Genetics
基金
四川省科技厅科技支撑项目(2016FZ0116)
四川省卫计委科研课题(16ZD018)
四川省科技厅重点项目(2017JY0272).
关键词
下一代测序
拷贝数变异
高龄
产前诊断
Next generation sequencing
Copy number variation
Advanced maternal age
Prenatal diagnosis
作者简介
通信作者:刘洪倩,Email:hongqian.1iu@163.com
