Chorionic villus sampling for diagnosis of thalassemia in the first trimester of pregnancy

Objective To determine value of chorionic villus sampling(CVS) in early diagnosis of severe thalassemia.Methods 40 pregnant women,which their couples were both the same α or β thalassemia gene carrier,underwent chorionic villus biopsy at 11~13 weeks of gestation for villus α or β gene detection and karyotyping of the fetus.Results 7 fetuses with severe α-thalassemia and 2 fetuses with β thalassemia were identified.1 patient who had a fetus with hydrocephalus was detected by ultrasonography in the second trimester of gestation and received artificial abortion.8 elder pregnant women(their age were more than 35 years old) had normal karyotypes of the fetus in chromosome examination.Other 30 unaffected pregnant women delivered a healthy full-term baby.Conclusion Abdominal chorionic villus sampling in early pregnancy is an rapid,safe and effective method to prenatally identify those fetuses with major thalassemia.