title: Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors.
abstract: OBJECTIVE
  To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell-free DNA sequencing from maternal plasma in a routine clinical setting in China.
  
  
  METHODS
  The MPS-based test was offered as a prenatal screening test for trisomies 21 and 18 to pregnant women in 49 medical centers over 2 years. A total of 11,263 participants were recruited and the MPS-based test was performed in 11,105 pregnancies. Fetal outcome data were obtained after the expected date of confinement.
  
  
  RESULTS
  One hundred ninety cases were classified as positive, including 143 cases of trisomy 21 and 47 cases of trisomy 18. With the karyotyping results and the feedback of fetal outcome data, we observed one false positive case of trisomy 21, one false positive case of trisomy 18 and no false negative cases, indicating 100% sensitivity and 99.96% specificity for the detection of trisomies 21 and 18.
  
  
  CONCLUSIONS
  Our large-scale multicenter study proved that the MPS-based test is of high sensitivity and specificity in detecting fetal trisomies 21 and 18. The introduction of this screening test into a routine clinical setting could avoid about 98% of invasive prenatal diagnostic procedures.
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Shan
authors.initials: S
authors.lastname: Dan
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Jinghui
authors.initials: J
authors.lastname: Ren
authors.forename: Yali
authors.initials: Y
authors.lastname: Li
authors.forename: Hua
authors.initials: H
authors.lastname: Hu
authors.forename: Zhengfeng
authors.initials: Z
authors.lastname: Xu
authors.forename: Tze Kin
authors.initials: TK
authors.lastname: Lau
authors.forename: Jianhong
authors.initials: J
authors.lastname: Xie
authors.forename: Weihua
authors.initials: W
authors.lastname: Zhao
authors.forename: Hefeng
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authors.lastname: Huang
authors.forename: Jiansheng
authors.initials: J
authors.lastname: Xie
authors.forename: Luming
authors.initials: L
authors.lastname: Sun
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Zhang
authors.forename: Weipeng
authors.initials: W
authors.lastname: Wang
authors.forename: Shixiu
authors.initials: S
authors.lastname: Liao
authors.forename: Rong
authors.initials: R
authors.lastname: Qiang
authors.forename: Jiangxia
authors.initials: J
authors.lastname: Cao
authors.forename: Qiufang
authors.initials: Q
authors.lastname: Zhang
authors.forename: Yulin
authors.initials: Y
authors.lastname: Zhou
authors.forename: Haiyan
authors.initials: H
authors.lastname: Zhu
authors.forename: Mei
authors.initials: M
authors.lastname: Zhong
authors.forename: Yi
authors.initials: Y
authors.lastname: Guo
authors.forename: Linhua
authors.initials: L
authors.lastname: Lin
authors.forename: Zhiying
authors.initials: Z
authors.lastname: Gao
authors.forename: Hong
authors.initials: H
authors.lastname: Yao
authors.forename: Hongyun
authors.initials: H
authors.lastname: Zhang
authors.forename: Lijian
authors.initials: L
authors.lastname: Zhao
authors.forename: Fuman
authors.initials: F
authors.lastname: Jiang
authors.forename: Fang
authors.initials: F
authors.lastname: Chen
authors.forename: Hui
authors.initials: H
authors.lastname: Jiang
authors.forename: Songgang
authors.initials: S
authors.lastname: Li
authors.forename: Yingrui
authors.initials: Y
authors.lastname: Li
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.forename: Tao
authors.initials: T
authors.lastname: Duan
authors.forename: Yue
authors.initials: Y
authors.lastname: Su
authors.forename: Xiuqing
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D002681:China / Q000453:epidemiology; D002887:Chromosomes, Human, Pair 18; D004314:Down Syndrome / Q000175:diagnosis* / Q000453:epidemiology; D005189:False Positive Reactions; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D062145:Maternal Serum Screening Tests; D008875:Middle Aged; D011247:Pregnancy; D011446:Prospective Studies; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA; D014314:Trisomy / Q000175:diagnosis*; D057188:Workflow; D055815:Young Adult