Application of Transcervical Chorionic Villus Sampling in the Prenatal Diagnosis of Thalassemia

Objective: To evaluate the feasibility and safety of prenatal diagnosis of Thalassemia in first trimester of gestation by Transcervical chorionic villus sampling (TC-CVS). Methods: 883 cases singleton pregnancies at 9～11 gestation weeks with Thalassemia high risk were performed in TC-CVS. After obtaining fetal DNA by chorionic villus sampling, PCR method was used to detect genotypes of Thalassemia. All the women were followed-up until completion of pregnancy. Results: The success rate of TC-CVS was 95.36%. The incidence of operation-associated fetal loss and intrauterine infection was 4.3%. and 1.13 %, separately. The α and β globin genotypes of 842 fetuses were as follows: Severe Thal 143, Hb H disease were 26. Conclusions: TC-CVS appears safe and feasible, and might to be offered in the prenatal diagnosis of Thalassemia in first trimester of gestation.