Prenatal Gene Diagnosis for High Risk Infant of Thalassemia

Objective To evaluate the value of prenatal gene diagnosis for thalassemia. Methods 128 fetuses suspected with thalassemia were performed amniocentesis or cordocentesis for gene diagnosis. Results No severe complications occurred during all procedures. 32 fetuses had normal genotype. 38 were heterozygous and 27 were homozygous of α- thalassemia; 18 were heterozygous, 4 were homozygous and 9 were double heterozygous of β-thalassemia. The types and frequencis of β-thalassemia mutation were CD 41-42(47.5%), IVS-Ⅱ-654(42.5%), 17(A-T)(7.5%) and -28 (A-G)(2.5%) in turn. Pregnancies of 40 fetuses with severe thalassemia were terminated in time. Conclusions The screening and prenatal diagnosis of high risk fetus for thalassemia is safe, effective and accurate. It should be used as an obstetrical routine examination at the region with high thalassemia occurrence.