title: Detection of common deafness mutation by maternal plasma cell-free DNA.
abstract: OBJECTIVE
  The aim is to investigate the use of the ligase detection reaction (LDR) microarray to examine the difference of the single nucleotide between the pregnant woman and the fetus by cell-free DNA in the maternal plasma in congenital deafness.
  
  
  METHODS
  The proband and the couples' venous blood samples and the amniotic fluid/ chorionic villi collected from seven deafness families for prenatal diagnosis were analyzed. The cell-free DNA from maternal plasma was examined to determine if they carried the mutations of GJB2 235delC.
  
  
  RESULTS
  Three samples were found to carry the mutation of GJB2 235delC. It is in agreement with the sequencing results. The affected fetuses were suggested to take invasive procedure for confirmation.
  
  
  CONCLUSIONS
  The chip may be a potential method to screen for congenital deafness based on maternal plasma DNA.
authors.affiliation: Department of Obstetrics, First Maternity and Infant Hospital affiliated Tongji University, Shanghai, China. tduan@yahoo.com.
authors.forename: M
authors.initials: M
authors.lastname: Meng
authors.forename: R
authors.initials: R
authors.lastname: Huo
authors.forename: M-Y
authors.initials: MY
authors.lastname: Han
authors.forename: F-L
authors.initials: FL
authors.lastname: Chi
authors.forename: P
authors.initials: P
authors.lastname: Dai
authors.forename: L
authors.initials: L
authors.lastname: He
authors.forename: S-Y
authors.initials: SY
authors.lastname: Qin
authors.forename: T
authors.initials: T
authors.lastname: Duan
mesh_terms: D000072259:Connexin 26; D017630:Connexins; D004247:DNA / Q000235:genetics*; D003638:Deafness / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005333:Fetus; D006801:Humans; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D004247:DNA