摘要
目的:通过分析地中海贫血(简称地贫)产前基因诊断及随访结果,探讨预防重型地贫的有效手段及意义。方法:对夫妇为同型地贫携带者的孕妇257例进行地中海贫血产前基因诊断,并进行产后追踪随防。结果:257例共检出重型地贫胎儿24例(Bart's水肿10例、重型β-地贫14例),HbH病20例,中度β-地贫2例,α-地贫基因携带者109例,β-地贫基因携带者30例,αβ复合型地贫12例(其中1例为重型),正常胎儿60例。产后随访均与产前诊断结果相符。结论:通过开展地贫的免费产前筛查及产前诊断,联合B超排畸检查,做好随访及进一步的跟踪指导,可最大程度避免重型地贫患儿的出生。
Objective： To explore the applicable scheme and the clinical significance for prevention of thalassemia by analyzing results of the screening and prenatal diagnosis on thalassemia with doubtful fetal in Guangzhou. Methods： A total of 257 pregnant women who were α- or β- thalassemia gene carrier were performed amniocentesis to test the fetus＇ thalassemia gene from 2010 to 2012. Fetus of all respondents were followed up after delivery. Results： In 257 cases, there were 10 Hb Bart＇s hydrops fetus, 20 HbH cases, 14 severe β-thalassemia cases, 2 intermeditate β-thalassemia cases, 109 α-thalassemia carriers, 30 β-thalassemia carriers, 12 co-inheritance of α- and β-thalassemia eases （including 1 severe α compound thalassemia fetus）, and 60 normal fetuses. Results of postpartum follow-up were consistent with those of prenatal diagnosis. Conclusion： The birth of children with severe thalassemia could be prevented effectively and the quality of population could be increased by prenatal diagnosis.
出处
《中国计划生育学杂志》
2015年第5期324-327,共4页
Chinese Journal of Family Planning
基金
国家科技支撑计划(2006BAI05A02
2012BAI09B01)
广东省计生委基金(2012208
20132031)
广东省科技厅科技基础条件建设项目(2010B060100014)
广州市医药卫生科技项目(20131A011156)
关键词
地中海贫血
基因诊断
产前诊断
随访
Thalassemia
Gene diagnosis
Prenatal diagnosis
Follow-up
作者简介
通讯作者：zuold@163．com
