重庆医学2016，Vol.45Issue(27)：3780-3782,3.DOI:10.3969/j.issn.1671-8348.2016.27.011
高通量基因测序对血清学筛查临界风险孕妇的应用价值
Application of high-throughput sequencing in pregnant women with critical risk of serological screening
摘要
Abstract
Objective To evaluate the clinical value of the application high‐throughput sequencing for the detection of fetal chromosome in pregnant women with critical risk .Methods A total of 1 066 pregnant women with critical risk of serological screening were collected from May 2012 to May 2015 at our center .The peripheral venous blood from the pregnant women was drawn ,plasma DNA was extracted ,and the sequencing library was prepared .High‐throughput sequencing procedure was carried out on Illumina NextSeq500 platform .The cases of sex chromosomal abnormalities were advised to accept prenatal fetal chromosomal karyotype analysis of amniotic fluid cells using G‐banding technique .Results High‐throughput sequencing revealed 15 cases of sex chromosomal aneuploidies in 1 066 pregnant women .After receiving informed consent ,13 cases of pregnant women voluntarily re‐ceived amniotic fluid prenatal diagnosis ,of which 7 cases were consistent with the sequencing results ,including four cases of Triso‐my21 ,one cases of Trisomy18 ,one cases of 47 ,XXX and one cases of 47 ,XXY ,while the other six cases were confirmed to be nor‐mal karyotype .Conclusion High‐throughput sequencing can be used as an effective method for the detection of critical pregnant women with critical risk .关键词
产前诊断/DNA/高通量测序/临界风险/无创产前筛查Key words
prenatal diagnosis/DNA/high-throughput sequencing/critical risk/non-invasive prenatal testing分类
医药卫生引用本文复制引用
周琴,虞斌,郑芳秀,陈英苹,张晓青,张玢,黄瑞萍,陆蓓亦,缪婷婷,袁珮..高通量基因测序对血清学筛查临界风险孕妇的应用价值[J].重庆医学,2016,45(27):3780-3782,3.基金项目
江苏省常州市科技支撑计划（社会发展）项目（CE20155055）。 （）
