广西南宁农村育龄地中海贫血高危孕妇产前诊断分析

Prenatal Diagnosis for Pregnant Women with High Risk of Thalassemia in Village of Nanning Guangxi

目的探索适用于在农村推广的地中海贫血(地贫)干预模式。方法依托计划生育系统,跟踪高危地贫夫妇,176对前期筛查出的高危夫妇已经妊娠者纳入研究。结果 176例孕妇中,25例孕妇失去联系,2例拒绝行产前诊断。其余149例,重型或中间型β地贫6例,重型α地贫4例,中间型α地贫(HbH病)15例,HbH病复合轻型β地贫1例;轻型(或静止型)α或β地贫或轻型(或静止型)α合并β地贫86例,正常37例。HbH病胎儿中,非缺失型(HbH-CS)5例,其余为缺失型HbH病。26例确诊重型或中间型α或β地贫者均终止妊娠。结论依托计划生育部门主动服务,是在农村开展地贫干预的适宜措施。

Objective To investigate the thalassemia intervention mode suitable for application in the village. Methods Based on the family planning system,couples with high risk of thalassemia were followed,and 176 couples were studied. Results In 176 pregnant women,25 were lost touch,and 2 refused the prenatal diagnosis.For the remained 149 cases,6 were diagnosed with β thalassemia major or intermedia,4 with α thalassemia major,15 with α thalassemia intermedia（HbH disease）,1 with HbH disease accompanied by β thalassemia,86 with α or/and β thalassemia minor or silent gene,and 37 were normal cases.Among the fetuses with HbH disease,5 were diagnosed with HbH-CS.All the 26 pregnant women with fetuses with α or β thalassemia major or intermedia underwent pregnancy termination. Conclusion Thalassemia prevention based on family planning system is suitable for village regions.