RESUMO
OBJECTIVE: To investigate the clinical feasibility of cell-free fetal DNA (cffDNA)-based noninvasive prenatal diagnosis of ß-thalassemia. METHODS: Nine samples of amniotic fluid were obtained to detect the 8 common and 9 relatively rare mutation sites of ß-thalassaemia in Guangdong Province. The maternal blood samples were also collected for extracting and purification of the cffDNA, and a duplex PCR was performed using 3 pairs of primers and the fetal ß-globin genotype was analyzed by reverse dot-blot hybridization. RESULTS: Among the 9 cases, 5 showed fetal genotypes of ß-thalassemia inherited from the father by examination of the amniotic fluid, and 2 fetuses were identified to have ß-thalassemia genes inherited from the father determined based on the cffDNA in the maternal blood. CONCLUSIONS: The cffDNA-based noninvasive prenatal diagnosis is feasible for ß-thalassemia, but the contamination of the maternal background DNA results in a low detection rate.