羊膜腔穿刺术在产前诊断α珠蛋白生成障碍性贫血中的应用——附102例分析  

Clinical application of amniocentesis in prenatal diagnosis of α-thalassemia.

作　　者：侯红瑛[1] 李小毛[1] 尹玉竹[1] 滕奔琦[1] 

机构地区：[1]中山大学附属第三医院妇产科,510630

出　　处：《新医学》2006年第9期579-581,共3页Journal of New Medicine

基　　金：广东省科技计划项目(编号2003C3419);广东省卫生厅基金资助(编号A2003221)

摘　　要：目的：探讨羊膜腔穿刺术在产前诊断旺珠蛋白生成障碍性贫血（珠贫）中的应用价值。方法：选择102对夫妇双方均为旺珠贫基因携带者的孕16～34周的孕妇，在B超引导下行羊膜腔穿刺术，取羊水细胞用PCR方法进行旺珠蛋白基因分析。结果：羊膜腔穿刺术一针成功率为100％，标本送检成功率99％，1例因羊水标本有母血污染，未能送检.101例孕妇的胎儿共检出血红蛋白Bart胎儿水肿综合征6例，血红蛋白H病2例，东南亚缺失型α珠1杂合子16例，α珠2杂合子13例.结论：B超引导下羊膜腔穿刺术适用于妊娠中、晚期孕妇的胎儿α珠贫的产前诊断，操作简便、安全，标本送检成功率高。Objective： To investigate the clinical application of amniocentesis （AC） in the prenatal diagnosis of α-thalassemia. Methods： One hundred and two pregnant women that they and their husbands both carrying MA gene were enrolled in this study. Amniocentesis was performed under ultrasonic guidance and amniotic fluid was analyzed for α-globin gene by PCR. Results： The success rate of first puncture was 100%, Contamination by maternal blood occurred in 1%, The α-globin gene types of 102 fetuses were as follows： Hb Bart＇s hydrops fetalis syndrome in 6, Hb H disease in 2, heterozygous α-thal-1 of the Southeast Asian （ SEA ） deletion type in 16 and heterozygous α-thal-2 in 13 of SEA, Conclusion： Amniocentesis is suitable for prenatal diagnosis of α-thalassemia in mid and late pregnancy. It is simple and safe with high success rate.

关 键 词：羊膜腔穿刺术 产前诊断 α珠蛋白生成障碍性贫血 超声检查 羊水聚合酶链反应 

分 类 号：R714.5[医药卫生—妇产科学]