title: Toward optimal detection of the common prenatal aneuploidies by quantitative fluorescent-polymerase chain reaction: comparison of two commercial assays.
abstract: OBJECTIVE
  To evaluate and compare the performance of the recently released Aneufast™ v2 (MolgentixSL) and QST*RplusV2 commercial assays (Gen-Probe), both designed for the quantitative fluorescent-polymerase chain reaction (PCR) detection of the common aneuploidies during pregnancy.
  
  
  METHODS
  A series of 160 consecutive fetal samples referred for rapid aneuploidy detection testing and an additional 25 samples enriched for the presence of an abnormality were selected for comparison.
  
  
  RESULTS
  To confidently rule out a chromosome abnormality, a second round of short tandem repeat typing was required for 14.1% (26) and 9.7% (18) of the specimens analyzed with Aneufast v2 and QST*RplusV2, respectively. Reflex testing was required for 7.6% (14) and 5.9% (11) of the specimens analyzed with respective assays to confidently rule out an autosomal trisomy. For the sex chromosomes, the difference in the amount of follow-up testing is greater between the assays, as a result of the inclusion in the initial PCR of the TAF9L paralogous marker in the QST*RplusV2 assay.
  
  
  CONCLUSIONS
  Overall, both assays performed similarly in the detection of aneuploidies. In this sample set, the QST*RplusV2 kit required less frequent reflex testing, which translates into shorter turnaround time and cost savings. The incorporation of the TAF9L paralogous sequence in the initial PCR is advantageous for diagnostic use.
authors: Molecular Diagnostic Laboratory, University of Alberta Hospitals, Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. patrick.scott@ualberta.ca
authors: Patrick
authors: P
authors: Scott
authors: Lynn
authors: L
authors: Podemski
authors: Kelly
authors: K
authors: Baptista Wyatt
authors: Christine
authors: C
authors: Walker
authors: Shelagh M
authors: SM
authors: Haase
authors: Basil G
authors: BG
authors: Elyas
authors: Kathleen A
authors: KA
authors: Sprysak
authors: Margaret
authors: M
authors: Lilley
authors: Susan
authors: S
authors: Christian
authors: Mark
authors: M
authors: Hicks
authors: Martin J
authors: MJ
authors: Somerville
authors: Stacey L
authors: SL
authors: Hume
mesh_terms: D000782:Aneuploidy; D019075:Electrophoresis, Capillary; D005453:Fluorescence; D006801:Humans; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction / Q000379:methods*; D011296:Prenatal Diagnosis