Comparison of the Performance of QF-PCR with QPCR as A Rapid Molecular-Based Method for Sex Chromosome Aneuploidies Detection
Journal Title: Journal of Medical Science And clinical Research - Year 2014, Vol 2, Issue 11
Abstract
Objective: The high prevalence and variable phenotype of sex chromosome aneuploidies, necessitated the development of a robust method allowing their rapid prenatal diagnosis. Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) has emerged as a rapid and cost-efficient prenatal diagnostic test for autosomal & sex chromosome aneuploidies. Quantitative real-time PCR (qPCR), an accurate and precise tool for determination of template copy number, represents a potential cost-effective option for sex chromosome copy number detection in laboratories lacking sequencing facilities. Methods: The performance of QF-PCR and qPCR-ΔΔCT methods for the detection of sex chromosome copy numbers, was evaluated in a retrospective cohort of 56 archival samples; 43 control samples from normal male [n = 19] and female [n = 24] fetuses and 13 sex chromosome aneuploidies. All samples were blindly tested and the results of QF-PCR and qPCR were compared with the original Karyotyping results. Results: qPCR showed 100% sensitivity. Using our QF-PCR sex chromosome primer mix, a case of Turner syndrome was misdiagnosed as normal female. Both methods showed 100% specificity. Conclusion: qPCR is a promising, low cost, rapid tool for sex chromosome copy number detection for further evaluation on a large scale to validate its performance.The introduction of an X/auto some paralagous marker and SRY primers to our QF-PCR sex chromosome primer mix will be considered for future studies.
Authors and Affiliations
Dr. Reham Moftah
Keywords
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