title: Quantitative fluorescence PCR analysis of >40,000 prenatal samples for the rapid diagnosis of trisomies 13, 18 and 21 and monosomy X.
abstract: OBJECTIVE
  To present the results of 10 years of quantitative fluorescence PCR (QF-PCR) analysis of prenatal samples for the rapid diagnosis of the common aneuploidies. This represents the largest QF-PCR data set from a single testing centre.
  
  
  METHODS
  QF-PCR analysis using a single assay containing 17 microsatellite markers was applied to all prenatal samples for the identification of trisomies 13, 18 and 21 and triploidy. A separate assay containing 14 sex chromosome markers was targeted to prenatal samples at increased risk of monosomy X.
  
  
  RESULTS
  Results from 40,624 prenatal samples comprising 14,144 chorionic villus and 26,480 amniotic fluid samples are summarised. A QF-PCR result was not possible for 2.24% amniotic fluid and 0.25% chorionic villus samples because of the presence of an additional genotype consistent with maternal cell contamination. Just 0.08% samples were uninformative for one or more chromosomes and 0.05% of samples failed to produce a genotype. Ninety-eight percent of samples were reported the following working day from sample receipt. Consumable costs were £ 5/sample.
  
  
  CONCLUSIONS
  QF-PCR analysis is proven to be an accurate, robust and efficient method for the rapid diagnosis of common aneuploidies in prenatal samples. It has the advantage of detecting triploidy and mosaicism and benefits from considerable economy of scale.
authors.affiliation: Cytogenetics Department, GSTS Pathology, Guy's Hospital, London, SE1 9RT, UK. Kathy.Mann@gsts.com
authors.forename: Kathy
authors.initials: K
authors.lastname: Mann
authors.forename: Alison
authors.initials: A
authors.lastname: Hills
authors.forename: Celia
authors.initials: C
authors.lastname: Donaghue
authors.forename: Helen
authors.initials: H
authors.lastname: Thomas
authors.forename: Caroline Mackie
authors.initials: CM
authors.lastname: Ogilvie
mesh_terms: D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D041321:Chromosomes, Human, X; D005260:Female; D005453:Fluorescence; D006801:Humans; D009006:Monosomy / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D012729:Sex Chromosome Aberrations; D013997:Time Factors; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics