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.%目的:评估两种不同技术原理的PCR方法用于地中海贫血(下称"地贫")产前诊断的必要性和可行性.方法:采用双盲法,对509份产前诊断标本分别采用单管多重PCR法(single-tube multiplex PCR,STMP)+反向点杂交法(reverse dot blot,RDB)、探针熔解曲线法(probe melting curve assay,PMCA)检测常见α-地贫和β-地贫基因突变.两种方法所得结果不一致或少见类型地贫突变时,采用DNA测序分析法确诊.所有产前诊断结果均进行验证或随访.结果:经STMP+RDB、PMCA检测突变谱不同,α-地贫和β-地贫各有1例结果不同.另STMP+RDB检测灵敏度高于PMCA,其差异性在标本受母血污染时有提示作用.结论:两种不同技术原理的PCR方法进行地贫产前诊断,是必要和可行的,两者具有互补性,可确保结果的可靠性和减少单一技术的缺陷.
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