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
Related Articles
- EP ID EP207979
- DOI -
- Views 69
- Downloads 0
Vitamin-D Status in metabolic syndrome and its correlation with different parameters of metabolic syndrome
Introduction: Metabolic syndrome refers to cluster of several cardio metabolic risk factors including abdominal obesity, hyperglycemia, dyslipidemia and elevated blood pressure that likely linked to insulin resistance. V...
Cushing’s Syndrome and Adrenal Insufficiency in a Patient Taking LongTerm Alternative Medication for Knee Pain
Cushing’s syndrome and adrenal insufficiency are the polar ends of the spectrum of adrenal disorders. While the former is a result of excess cortisol, the latter is due to its deficiency. The presence of cushingoid featu...
Estimation of CD34+ in Patients with Hypocellular Marrow and Treatment Response in Aplastic Anemia
Introduction: Hypoplastic myelodysplastic syndrome (hMDS) is morphologically difficult to be distinguished from acquired aplastic anaemia (AA). Response to treatment of AA varies based on the treatment used and duration...
Comparison and Evaluation of the Outcome of Fistulotomy Vs Fistulectomy Technique in Treatment of Low Fistula in Ano
Background: Fistula in ano is common surgical condition that is being treated by different surgical modalities. Aim of the study was to compare and evaluate the outcome of fistulotomy and fistulectomy technique in treatm...
Comparison of intravenous ondansetron and palonosetron in prevention of postoperative nausea and vomiting in patients posted for elective laproscopic cholecystectomy
Introduction: PONV is a major complication after anaesthesia, present in 20-30% range1 . We compared efficacy and tolerance of ondansetron and palonosetron for PONV prohylaxis in patients posted for elective laproscopic...