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《Journal of Third Military Medical University》 2013-16
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Non-invasive screening for chromosome abnormality in fetal free DNAs by massively parallel sequencing: report of 5 997 pregnant mothers

Zhang Rong,Xu Juchun,Xu Huanhuan,Hu Bin,Dong Yanling,Hu Hua,Li Junnan,Yao Hong(Center of Prenatal Diagnostics,Department of Gynecology and Obstetrics,Southwest Hospital,Third Military Medical University,Chongqing,400038,China)  
Objective To evaluate the detection rate of massively parallel sequencing(MPS)-based screening for chromosome abnormality of fetus free DNAs in their mother’s plasma,and provide clinical data for this non-invasive prenatal screening.Methods A total of 5 997 pregnant women with an age from 18 to 46 and a gestational age from 12 to 36 weeks who receiving prenatal examination in our center from June 2011 to November 2012 were recruited in this study.Five milliliters of peripheral blood were collected,and then the fetus DNAs were extracted from mother plasma and barcoded.The libraries of each sample were pooled and subjected to Illumina GAⅡx analyzer.Short reads were analyzed by binary hypothesized t tests and L-score analysis.Positive results of MPS were validated by cordocentesis based karyotyping.Results A total of 113 patients were found to be abnormal by MPS.Among them,89 mothers accepted cordocentesis based karyotyping,and the obtained sensitivity for trisomy 21 and trisomy 18 were 100%(28 /28) and 87.5%(7 /8),respectively.However,the sensitivity for sex chromosome abnormality was 33.3%(14 /42).Routine screening for Down’s syndrome showed a false negative ratio of 11.8%(2 /17),while MPS had no false ratio.The age(P = 0.261) and gestational weeks(P = 0.309) had no significant effect on the detection rates of MPS.Conclusion Noninvasive MPS screening is a more reliable detection for trisomy 21 than conventional routine screening for Down’s syndrome,and is suitable for large-scale screening for trisomy 21 to reduce the ratio of invasive cordocentesis based karyotyping.
【CateGory Index】: R714.5
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1 WU Qing-ming1,ZHOU Jin2.(1.Medical College of Shihezi University,Shihezi,Xinjiang 832000 China;2.Department of Obstetrics & Gynecology,Urumuqi General Hospital of Lanzhou Military Region,Urumuqi 830000,China);Advances in prenatal screening and prenatal diagnosis for birth defect[J];Chinese Journal of Birth Health & Heredity;2011-01
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1 ZHOU Dan1, YANG Xian-ling2, YIN Hai-jun2, ZHANG Xin1, JIANG Ying1 (1. Mineral General Hospital of Fuxin, Fuxin Liaoning 123000, China; 2. Fuxin City Maternity and Child Care Hospital, Fuxin Liaoning 123000, China);Screening diagnosis of prenatal abnormality by ultrasound[J];Journal of China Clinic Medical Imaging;2008-05
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