中国实用妇科与产科杂志2017，Vol.33Issue(5)：497-501,5.DOI:10.19538/j.fk2017050115
无创产前基因检测双胎21、18和13-三体综合征的应用研究
Noninvasive prenatal testing for trisomies 21,18 and13 in twin pregnancies
摘要
Abstract
Objective To discuss the feasibility of noninvasive prenatal testing for fetal trisomies 21,18 and 13 by using cell-free DNA from maternal plasma in twin pregnancies.Methods A total of 215 twin-pregnancy women with gestational age between 12-28 weeks were recruited from the Third Affiliated Hospital of Guangzhou Medical University and the Maternal and Child Healthcare Hospital of Foshan from August 2012 to November 2014.Maternal plasma was sampled and processed to access the risk for trisomies 21,18 and 13.Karyotyping was the standard to evaluate the accuracy of noninvasive prenatal testing,and newborns' physical examinations were the auxiliary standard.Results There were three cases of trisomy 21 correctly identified by plasma DNA sequencing and confirmed by fetal karyotyping,and the other 212 cases turned out to be low-risk,which were also confirmed by karyotyping or physical examinations after birth.The detection accuracy was 100％ by using noninvasive prenatal testing to detect the common trisomies in twin pregnancies and the invasive rate was dramatically reduced.Conclusion Noninvasive prenatal testing in twin pregnancies is a new choice for prenatal screening of trisomies 21,18 and 13,which is suitable for clinical use.关键词
双胎/无创产前基因检测/染色体非整倍体/侵入性产前诊断Key words
twins/noninvasive prenatal testing/chromosome aneuploid/invasive prenatal diagnosis分类
医药卫生引用本文复制引用
王佳燕,陈敏,吴莉,苏凤侠,李南,蒋馥蔓,陈芳,郭晓玲,陈敦金..无创产前基因检测双胎21、18和13-三体综合征的应用研究[J].中国实用妇科与产科杂志,2017,33(5):497-501,5.基金项目
广州市科技计划项目(穗科信字[2014]234号) （穗科信字[2014]234号）
国家自然科学基金(81671470) （81671470）
国家公益性行业科研专项(201402006) （201402006）
广东省自然科学基金(2016A030313610) （2016A030313610）
广东省科技计划项目(2013B022000005) （2013B022000005）
广州市科技计划项目(201604020078) （201604020078）
