title: A clinical algorithm for efficient, high-resolution cytogenomic analysis of uncultured perinatal tissue samples.
abstract: OBJECTIVE
  Cytogenetic analysis of solid tissue is indispensable in perinatal care, reproductive planning, and detection of gestational trophoblastic disease. Unfortunately, methods in common use suffer from drawbacks including culture artifact, low resolution, and high cost. We propose a new diagnostic algorithm based on direct genetic analysis of tissues (without cell culture) using QF-PCR and array CGH.
  
  
  METHODS
  Study samples consisted of specimens submitted to the cytogenetics laboratory between January and June of 2011 that were split and analyzed in parallel by our traditional algorithm (culture and G-banding, plus an interphase FISH aneuploidy panel for culture failures) and the proposed "no-culture" algorithm (first line QF-PCR, plus array CGH on normal QF-PCRs). Data on clinical impact, cost, and turnaround time were collected.
  
  
  RESULTS
  Forty specimens were included. The algorithms produced results that were fully concordant in 22 cases, partially concordant in 9 cases, and discordant in 9 cases. The no-culture algorithm detected new, clinically-significant abnormalities in 8 of 40 cases (20%), corrected the sex chromosome assortment in 1 case, reduced the analysis failure rate from 10% to 0%, and provided at least one of these three important benefits in 12 of 40 cases (30%). The algorithm also demonstrated a reduced cost per-specimen and per diagnosis, as well as improved turnaround time, with virtually all cases reported per guidelines.
  
  
  CONCLUSIONS
  These striking results favor the "no-culture" algorithm, which may have the potential to replace standard cytogenetic methods in the clinical laboratory.
authors.affiliation: Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Eric K
authors.initials: EK
authors.lastname: Morgen
authors.forename: Georges
authors.initials: G
authors.lastname: Maire
authors.forename: Elena
authors.initials: E
authors.lastname: Kolomietz
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding / Q000191:economics; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000191:economics; D020732:Cytogenetic Analysis; D003951:Diagnostic Errors; D005260:Female; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000191:economics; D008297:Male; D016133:Polymerase Chain Reaction / Q000191:economics / Q000379:methods; D046509:Tissue Culture Techniques / Q000191:economics