Genome-wide detection of additional fetal chromosomal abnormalities by cell-free DNA testing of 15,626 consecutive pregnant women.

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作者： Hong,Yao ^[1] ; Ya,Gao ^[2] ; Jia,Zhao ^[3] ; Rong,Zhang ^[4] ; Huixin,Xu ^[2] ; Huamei,Hu ^[3] ; Yanmei,Luo ^[1] ; Yuying,Yuan ^[2] ; Meili,Fu ^[1] ; Hongyun,Zhang ^[1] ; Hui,Jiang ^[5] ; Wei,Wang ^[5] ; Huanming,Yang ^[5] ; Jian,Wang ^[2] ; Zhiqing,Liang ^[3] ; Fang,Chen ^[2]

作者单位： Department of Gynecology & Obstetrics, Southwest Hospital, the Third Military Medical University, Chongqing, 400038, China. ^[1] BGI-Shenzhen, Shenzhen, 518083, China. ^[2] China National GeneBank, BGI-Shenzhen, Shenzhen, 518120, China. ^[3] Birth Defect Screening Project Lab, BGI-Shenzhen, Shenzhen, 518083, China. ^[4] Clinical laboratories of BGI Health, BGI-Shenzhen, Shenzhen, 518083, China. ^[5] James D. Watson Institute of Genome Sciences, Hangzhou, 310058, China. ^[6] Department of Gynecology & Obstetrics, Southwest Hospital, the Third Military Medical University, Chongqing, 400038, China. zhi.lzliang@gmail.com. ^[7] BGI-Shenzhen, Shenzhen, 518083, China. fangchen@genomics.cn. ^[8] China National GeneBank, BGI-Shenzhen, Shenzhen, 518120, China. fangchen@genomics.cn. ^[9] Laboratory of Genomics and Molecular Biomedicine, Department of Biology, University of Copenhagen, Copenhagen, DK-2100, Denmark. fangchen@genomics.cn. ^[10]

关键词 PPV cell-free DNA chromosomal abnormalities genome-wide sensitivity specificity

主题词青少年(Adolescent);成年人(Adult);染色体畸变(Chromosome Aberrations);染色体障碍(Chromosome Disorders);女(雌)性(Female);胎儿疾病(Fetal Diseases);基因组, 人(Genome, Human);孕龄(Gestational Age);人类(Humans);母亲年龄(Maternal Age);中年人(Middle Aged);妊娠(Pregnancy);产前诊断(Prenatal Diagnosis);前瞻性研究(Prospective Studies);敏感性与特异性(Sensitivity and Specificity);青年人(Young Adult)

DOI 10.1007/s11427-017-9344-7

PMID 30076564

发布时间 2020-03-05

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Science China. Life sciences

2019年62卷2期

215-224页

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Genome-wide detection of additional fetal chromosomal abnormalities by cell-free DNA testing of 15,626 consecutive pregnant women.

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Genome-wide detection of additional fetal chromosomal abnormalities by cell-free DNA testing of 15,626 consecutive pregnant women.

Science China. Life sciences

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Science China. Life sciences

相关期刊

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