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 50 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 – 80 0 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 71.43%, 66.67% respectively. and, the positive and negative predict values were 83.4% and 66.67% respectively.conclusion: the taq-man technique is fast and successful methods for detection of inherited paternal mutation for noninvasive prenatal diagnose of beta thalassemia.