title: Prenatal diagnosis of common aneuploidies using multiplex quantitative fluorescent polymerase chain reaction.
abstract: OBJECTIVE
  Prenatal diagnosis of foetal trisomies is usually performed by cytogenetic analysis. This requires lengthy laboratory procedures and it is expensive. Here, we report a retrospective study of quantitative fluorescent polymerase chain reaction (QF-PCR) for prenatal detection of trisomies 13, 18 and 21.
  
  
  METHODS
  QF-PCR was performed on a total of 447 amniotic fluids blindly analysed without any knowledge of the cytogenetic results and 43 samples with known karyotype. All samples were tested with at least 4 small tandem repeat markers specific for each chromosome 13, 18 or 21.
  
  
  RESULTS
  QF-PCR results on amniotic fluid were consistent with conventional cytogenetic data. QF-PCR detected 5 cases of trisomy 21, 2 cases of trisomy 18, 1 case of trisomy 13 and 1 case with Klinefelter's syndrome.
  
  
  CONCLUSIONS
  QF-PCR has proved to be very useful in clinical settings, since it allows the detection of major numerical disorders in a few hours after sampling and thus reduces parental anxiety.
authors.affiliation: Laboratoire Marcel Mérieux, Service de Génétique Moléculaire, Lyon, France. smouatassim@lab-merieux.com
authors.forename: S
authors.initials: S
authors.lastname: El Mouatassim
authors.forename: M
authors.initials: M
authors.lastname: Becker
authors.forename: S
authors.initials: S
authors.lastname: Kuzio
authors.forename: C
authors.initials: C
authors.lastname: Ronsin
authors.forename: S
authors.initials: S
authors.lastname: Gil
authors.forename: M
authors.initials: M
authors.lastname: Nouchy
authors.forename: L
authors.initials: L
authors.lastname: Druard
authors.forename: F
authors.initials: F
authors.lastname: Forestier
mesh_terms: D000782:Aneuploidy; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*