Analysis of Chorionic Villus Sampling Applied to Prenatal Diagnosis of 10 72 Cases of Thalassemia in First Trimester

Objective To control the birth of children with thalassemia by applying prenatal diagnosis to high risk pregnancy. Methods Chorionic villi samplings were performed in 1 072 pregnancies of gestational age of 10 to 15 weeks for the gene detection of α- or β-thalassemia. Results Out of 1 072 chorionic villi samples,727 were given gene analysis of α-thalassemia,568( 78. 13%) were carriers with α-thalassemia; 336 were given gene analysis ofβ-thalassemia,256( 76. 19%) were carriers with β-thalassemia; 9 were given gene analysis of α- and β-thalassemia,all of which were carriers with thalassemia. There were 142 cases of Hb Bart's disease and 75 cases of homozygous or double heterozygous β-thalassemia,they all received termination of pregnancy within one week after prenatal diagnosis.Conclusion Chorionic villi sampling is a feasible and effective technique for prenatal diagnosis of thalassemia,which might effectively control the birth of children with thalassemia.