Author(s)

Reham Moftah, Salah Marzouk, Dalal El-Kaffash, Raymonda Varon, Christiane Bommer, Mohsen Karbasiyan, Heidemarie Neitzel

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Clinical Pathology Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Institut für Medizinische Genetik und Humangenetik, Charité-Universit?tsmedizin Berlin, Campus Virchow Klinikum, Augusten- burger Platz 1, Berlin, Germany.

Objectives: The currently available methods for rapid prenatal diagnosis of common chromosomal aneuploidies are either Interphase-Fluorescence in Situ Hybridisation (I-FISH) or Quanti- tative Fluorescent Polymerase Chain Reaction (QF-PCR). QF-PCR represents a rapid, high throughput, cost-effective alternative for Interphase-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 trisomic cell line was present at an adequate level (23% or more). However, QF-PCR was unable to detect chromosomal 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 specificity.

Rapid Prenatal Diagnosis; Autosomal Aneuploidies; QF-PCR

Moftah, R. , Marzouk, S. , El-Kaffash, D. , Varon, R. , Bommer, C. , Karbasiyan, M. and Neitzel, H. (2013) QF-PCR as a molecular-based method for autosomal aneuploidies detection. Advances in Reproductive Sciences, 1, 21-28. doi: 10.4236/arsci.2013.13004.