Non-invasive prenatal diagnosis of beta-Thalassemia

Background and Aim: The Taq-Man techniques is fast, effective, and successful methods for mutation detection. The aim of this study was compare the sensitivity and specificity of Taq-Man real time PCR for detection paternally inherited IVS II-I (G A) mutation in fetus as a non invasive prenatal diagnosis of β-Thalassemia.Methods: Genomic DNA from ۵۰ β-Thalassemia minor couples whose pregnancy was at risk for homozygous β- Thalassemia was used. Ten milliliters of maternal blood from each pregnant woman were collected, plasma was separated, and it stored at – ۸۰ ۰ c until analysis. Extracted DNA analyzed by Taq-Man Real time PCR for detection of paternally inherited mutation. The result of routine prenatal diagnosis compared with Taq-Man technique. The gold standard of this study was the result of chorionic vilus sampling.Results: The sensitivity and specificity of Taq-Man method were ۷۱.۴۳%, ۶۶.۶۷% respectively. And, the positive and negative predict values were ۸۳.۴% and ۶۶.۶۷% respectively. Conclusion: The Taq-Man technique is fast and successful methods for detection of inherited paternal mutation for noninvasive prenatal diagnose of beta thalassemia.

Keywords:

Non invasive prenatal diagnosis , Taq-Man real time PCR , IVS II-I , β Thalassemia major.