Large-Scale Population Prenatal Screening and Diagnosis of Thalassemia

Objective To investigate the application values of prenatal screening and diagnosis of thalassemia by retrospective study of the result of prenatal screening and diagnosis of thalassemia(88 739 people) in Guangzhou maternal and neonatal hospital during 1994～2003. Methods Regular screening for α- or β-thalassemia were carried out in couples performing prenatal check up, including quantification analysis of hemoglobin(HB), microscopic inspection of small Henzi bodies and red blood cells (RBC). For both of the couples were thalassemia carries prenatal diagnosis were performed including genotype detecting by extracting villus or amniotic fluid in first trimester pregnancy, or by extracting umbilical cord blood in second or third trimester pregnancy. Results 5026 people were α-thalassemia carriers (5.7%) and 3157 were β-thalassemia carriers (3.5%). 185 couples were α-thalassemia carriers and 75 couples were b β-thalassemia carriers. Among 250 couples received prenatal diagnosis, 73 fetuses were found as thalassemia traits or severe thalassemia. Conclusions With prenatal screening and diagnosis in thalassemia, severe thalassemia fetuses could be found early and terminate the pregnancy instantly. This extensive retrospective study suggested the strategy of prenatal screening and diagnosis should be an effective way in the control of severe thalassemia, thus would help improve the quality of birth and advance the diathesis of the population, especially in high prevalence areas such as Guangdong province.