ABSTRACT
Objective To evaluate the necessity and feasibility by using two different PCR-based techniques for prenatal diagnosis of thalassemia. Methods 509 specimens for prenatal diagnosis of thalassemia were detected respectively by single tube multiplex PCR(STMP),reverse dot blot(RDB)or probe melting curve assay(PMCA)for commonα-thalassemia orβ-thalassemia mutations in double-blind tests. Samples with different detection results were confirmed with DNA sequencing analysis. Prenatal diagnosis of thalassemia results were verified or followed up after birth. Results In detectingα-thalassemia andβ-thalassemia,there was one case in STMP + RDB and another case PMCA indicating differentiating results. The detection sensitivity of STMP + RDB was higher than that of PMCA,and its difference can be used as an indication for maternal blood contamination. Conclusion The two PCR methods with different principles were necessary and feasible for the prenatal diagnosis of thalassemia. The two methods were complementary to each other ,which can ensure the reliability of the prenatal diagnosis results and reduce the defects of single technique. It is worthy to be popularized in clinical application.