孕中期羊水产前诊断地中海贫血2275例分析  

Analysis on prenatal diagnosis of thalassemia by amniocentesis in 2275 cases during the second trimester of pregnancy

作　　者：何升[1] 郑陈光[1] 张强[1] 陈碧艳[1] 黄朋[1] 唐燕青[1] 韦媛[1] 陈秋莉[1] 

机构地区：[1]广西壮族自治区妇幼保健院,广西南宁530003

出　　处：《中国妇幼保健》2015年第14期2245-2247,共3页Maternal and Child Health Care of China

基　　金：广西科技厅攻关项目〔桂科攻14124004-1-5〕;广西卫生厅自筹课题〔Z2014146〕;广西卫生厅重点课题〔重2012020〕;广西医疗卫生适宜技术研究与开发课题〔S201309-04〕

摘　　要：目的：通过对孕妇羊水细胞进行地中海贫血基因检测,以期预防重型α-地中海贫血和中间型、重型β-地中海贫血患儿的出生。方法：选取2006年1月~2014年10月在该院进行产前检查并确诊或外院转诊的高风险地中海贫血妊娠孕妇2 275例,对夫妇为同型珠蛋白生成障碍性贫血的妊娠孕妇在孕15~28周取羊水细胞进行地中海贫血基因检测。结果：2 275例羊水细胞中,检出Hb Bart＇s症329例,β-地中海贫血纯合子或双重杂合子302例,包括Hb Bart＇s症合并CD41-42纯合子1例,Hb H病38例,地中海贫血基因携带1 121例。所有Hb Bart＇s症和β-地中海贫血纯合子或双重杂合子胎儿均终止妊娠。结论：采用孕中期羊水进行产前诊断地中海贫血能有效地控制该类患儿的出生。Objective： To prevent the biith of children with severe α-thalassemia, β-thalassemia intermedia, and severe β- thalassemia by detecting thalassemia genes with amniocentesis in pregnant women. Methods： A total of 2 275 pregnant women diagnosed as thalassemia by prenatal examination in the hospital or pregnant women with high risk thalassemia transferred from the other hospitals from Janufiry 2006 to October 2014 were selected, thalassemia genes detection by amniocentesis in pregnant women were performed during 15-28 gestational weeks for all the couples with thalassemia of the same type. Results： Among 2 275 cases, 329 cases were diagnosed as Hb Bart＇s disease, 302 cases were diagnosed as homozygous or double-heterozygous β-thalassemia, including one case with Hh Ban＇s disease combined with CD41 -42 homozygote, 38 eases were diagnosed as HbH disease, 1 121 cases were carriers of thalasse.4nia genes. All pregnancies with affected fetuses were terminated voluntarily. Conclusion： Prenatal diagnosis of thalassemia by amniocentesis during the second trimester of pregnancy can effectively control birth of the children with thalassemia.

关 键 词：地中海贫血 羊水 产前诊断 

分 类 号：R714.14[医药卫生—妇产科学]