【摘要】 目的加强地中海贫血高危孕妇产前诊断,以减少重症地中海贫血患儿的出生。方法通过婚育地中海贫血高危夫妇行地贫基因检测,对同型有出生重型地贫患儿风险的孕妇进行产前基因诊断。结果 480例高危孕妇中,重型或中间型β地贫29例,重型α地贫56例,中间型α地贫41例。结论通过对地中海贫血高危孕妇产前基因诊断,快速准确检测出重型地贫胎儿,为临床诊断提供重要的依据,防止重型胎儿的出生。更多还原

【Abstract】 Objective:To strengthen the prenatal diagnosis of high risk gravida with thalassemia,reduce the children birth with severe thalassemia. Methods:The thalassemia gene samples were examined and analyst from the high risk couples with thalassemia. For the couples which have same thalassemia gene types,the prenatal gene diagnosis is requested for the gravidas whose fetuses have severe thalassemia risk. Result:In 480 specimens,there are 29 cases of β thalassemia major and medium,56 cases of αthalassemia major,and 41 cases of αthalassemia medium. Conclusion:The prenatal gene diagnosis for high risk gravidas with thalassemia is rapid and accurate for screening fetuses with sever thalassemia,and provide an important basis for clinical diagnosis to prevent fetal birth with severe thalassemia.更多还原