title: [Prenatal diagnosis of β-thalassaemia using cell-free fetal DNA in maternal plasma].
abstract: OBJECTIVE
  To investigate the clinical feasibility of cell-free fetal DNA (cffDNA)-based noninvasive prenatal diagnosis of β-thalassemia.
  
  
  METHODS
  Nine samples of amniotic fluid were obtained to detect the 8 common and 9 relatively rare mutation sites of β-thalassaemia in Guangdong Province. The maternal blood samples were also collected for extracting and purification of the cffDNA, and a duplex PCR was performed using 3 pairs of primers and the fetal β-globin genotype was analyzed by reverse dot-blot hybridization.
  
  
  RESULTS
  Among the 9 cases, 5 showed fetal genotypes of β-thalassemia inherited from the father by examination of the amniotic fluid, and 2 fetuses were identified to have β-thalassemia genes inherited from the father determined based on the cffDNA in the maternal blood.
  
  
  CONCLUSIONS
  The cffDNA-based noninvasive prenatal diagnosis is feasible for β-thalassemia, but the contamination of the maternal background DNA results in a low detection rate.
authors.affiliation: Guangdong Academy of Medical Science, Guangzhou 51008, China. guanghua1974@126.com
authors.forename: Guang-hua
authors.initials: GH
authors.lastname: Li
authors.forename: Ka-bin
authors.initials: KB
authors.lastname: Rong
authors.forename: Yan-fei
authors.initials: YF
authors.lastname: Luo
authors.forename: Dong
authors.initials: D
authors.lastname: Chen
authors.forename: Cai-ping
authors.initials: CP
authors.lastname: Gong
authors.forename: Jin
authors.initials: J
authors.lastname: Wu
authors.forename: Yu-wei
authors.initials: YW
authors.lastname: DI
authors.forename: Yan-fen
authors.initials: YF
authors.lastname: Ge
mesh_terms: D000328:Adult; D002474:Cell-Free System; D004247:DNA / Q000097:blood*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005333:Fetus; D005820:Genetic Testing; D006801:Humans; D011247:Pregnancy / Q000097:blood*; D011296:Prenatal Diagnosis / Q000379:methods*; D055815:Young Adult; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics
chemical_list: D004247:DNA