QF-PCR as a molecular-based method for autosomal aneuploidies detection

Abstract

Objectives: The currently available methods for rapid prenatal diagnosis of common chromoso-mal aneuploidies are either Inter-phase-Fluore-scence in Situ Hybridisation (I-FISH) or Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR). QF-PCR represents a rapid, high throughput, cost-effective alternative for Inter-phase-FISH. The objective of the study was to evaluate the performance of QF-PCR, as a molecular based technique for the detection of chromosome 21, 18 and 13 copy numbers. Study design: A retrospective cohort of 163 samples referred for screening of common chromosomal aneuploidies was blindly tested for chromosome 21, 18 and 13 copy numbers using QF-PCR and the results were compared with those of conventional cytogenetic analysis. Results: QF-PCR demonstrated optimal sensitivity and specificity (100%) for non mosaic trisomies. QF-PCR was able to consistently detect maternal cell contamination and mosaic trisomies when the triso-mic cell line was present at an adequate level (23% or more). However, QF-PCR was unable to detect chro-mosomal rearrangements for which the primers were not designed. Conclusion: QF-PCR proved its superior performance as a molecular based method for autosomal aneuploidy detection concerning both sensitivity and speci-ficity.