孕中晚期脐带血产前诊断地中海贫血1088例分析  

Analysis of thalassemia results by prenatal diagnosis in second and third trimester from 1088 cord blood samples

作　　者：李东明[1] 张硕[1] 黄小敏[1] 

机构地区：[1]广西壮族自治区妇幼保健院,南宁530003

出　　处：《中国优生与遗传杂志》2016年第5期72-73,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的控制地中海贫血患儿的出生。方法在孕17~38w取脐带血1088例进行α和β地中海贫血基因检测。结果602例脐带血进行α地中海贫血基因检测,检出Hb Bart′s症180例、Hb H病21例和基因携带者268例;479例脐带血进行β地中海贫血检测,检出纯合子或双重杂合子124例和杂合子237例;7例脐带血进行α和β地中海贫血检测,均检出地中海贫血,包括CD41-42/CD26合并α地中海贫血携带2例。所有Hb Bart′s症和β地中海贫血纯合子和双重杂合子胎儿均终止妊娠。结论采用脐带血进行地中海贫血产前诊断能有效地减少该类患儿的出生。Objective：To control the birth of thalassemia disease children. Methods：A total of 1088 pregnancies were enrolled in this study. Cordocentesis were performed at 17 to 38 weeks′ gestation for all couples at risk for either α-or β-thalassemia. Results：Out of 602 Samplings,268 were carriers with α-thalassemia,68 were Hb H disease,whereas 142 were Hb Bart′s disease. Out of 479 Samplings,124 were homozygous or double heterozygous β-thalassemia,237 were heterozygous β-thalassemia. Out of 7 Samplings,all were α-or/and β-thalassemia,including 2 were CD41-42/CD26 with α-thalassemia. All pregnancies with affected fetuses were voluntarily terminated. Conclusion：Cordocentesis is a feasible and effectice technique for prenatal diagnosis of thalassemia.

关 键 词：地中海贫血 脐带血 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]