Prenatal Diagnosis of Thalassemia in 2 171 Cases

Objective:To make a retrospective analysis about 1 506 prenatal diagnosis cases of α-thalassemia and 665 cases of β-thalassemia in the prenatal diagnosis center of women and children hospital of Guangdong Province.Methods:Gap-PCR and polymerase chain reaction-reverse dot blot(PCR-RDB)assay.DNA sequencing was used in the case when unusual mutation was identified in at least one parent.Results:262 cases of Bart′s fetuses and 72 cases of Hb H were detected in 1 506 cases of α-thalassemia prenatal diagnosis.Meanwhile,174 fetuses with complex mutation were final diagnosed from 665 cases of β-thalassemia prenatal diagnosis.Conclusions:Prenatal diagnosis of thalassemia can effectively reduce the birth of Bart′s fetuses and seriously β-thalassemia,and it has the vital significance for eugenic birth and decrease of the perinatal complication.