Prenatal screening and fetal diagnosis of thalassemia.

Objective:In order to prevent and control the birthrates of thalassemia in Baise area,Guangxi province,this paper aims to investigate the incidence of the disease among the pregnant and to perform diagnosis in high risk fetus.Methods:Use MCV,RCOF and Hb to screen the thalassemia with 1840 pregnant women.Results: 334 thalassemia(18.16%) were identified among the total cases.210 cases were with a-thalassemia(11.41%) and 124 cases were with β-thalassemia(6.75%).270 positive DNA samples were genotyped.22 carrier couples were detected for thalassemia and the fetuses were subjected prenatal diagnosis: 6 were normal,4 a-thalassemia with heterozygotes,2 HbH,3 Bart′ s edema,1β-thalassemia homozygote,4β-thalassemia double with heterozygotes and 3β-thalasse mia with heterozygotes.Conclusion: Neonates with major thalassemia can be clarified and even avoided by screening the incidence and types of genic mutations.Thus the usage of this method is effective to avoid the birth of neonates and is vital to improve the quality of human being