title: [Significance of detecting free DNA from maternal plasma for the diagnosis of fetal chromosomal aneuploidies].
abstract: OBJECTIVE
  To determine the feasibility and accuracy of detecting numerical chromosomal abnormalities by high-flux sequencing analysis of free fetal DNA from maternal plasma.
  
  
  METHODS
  High-flux sequencing was applied to analyze fetal chromosome sequence copy numbers in 153 pregnant women. Fetal karyotyping was also carried out on amniocentesis samples.
  
  
  RESULTS
  Six cases were detected with fetal chromosomal abnormalities by high-flux sequencing analysis, among which five were confirmed by karyotyping to be chromosomal aneuploidies (47,XYY; 45,X; 47,XY,+18; 47,XY,+21 and 47,XY,+13), 1 case was confirmed to be structural rearrangement, i.e., 46,XY,der(13;21)(q10;q10),+21. Furthermore, 3 chromosomal polymorphisms (one 46,XY,21p+ and two 46,XY,Yqh-) were identified. The two methods yielded similar results on fetal chromosome copy number detection.
  
  
  CONCLUSIONS
  High-flux sequencing analysis of free DNA derived from maternal plasma is efficient for detecting fetal chromosomal aneuploidies, and is non-invasive, highly sensitive and specific. It therefore has a broad application in antenatal diagnosis.
authors.affiliation: People's Hospital of Zhengzhou University, Zhengzhou, Henan, People's Republic of China. liuhongyan2009@yahoo.com.cn
authors.forename: Hong-yan
authors.initials: HY
authors.lastname: Liu
authors.forename: Dong
authors.initials: D
authors.lastname: Wu
authors.forename: Hui
authors.initials: H
authors.lastname: Li
authors.forename: She-ke
authors.initials: SK
authors.lastname: Guo
authors.forename: Chao-yang
authors.initials: CY
authors.lastname: Zhang
authors.forename: Shi-xiu
authors.initials: SX
authors.lastname: Liao
authors.forename: Ying-tai
authors.initials: YT
authors.lastname: Wang
mesh_terms: D000328:Adult; D000649:Amniocentesis / Q000379:methods; D000782:Aneuploidy; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D004247:DNA / Q000737:chemistry* / Q000235:genetics*; D005260:Female; D005333:Fetus; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D055815:Young Adult
chemical_list: D004247:DNA