Noninvasive prenatal testing for trisomies 21,18 and13 in twin pregnancies
WANG Jiayan
CHEN Min
WU Li
SU Fengxia
LI Nan
JIANG Fuman
CHEN Fang
GUO Xiaoling
CHEN Dunjin
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.
Keywords：twinsnoninvasive prenatal testingchromosome aneuploidinvasive prenatal diagnosis
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 497-501 )