经宫颈绒毛取材用于地中海贫血产前诊断883例分析  

Application of Transcervical Chorionic Villus Sampling in the Prenatal Diagnosis of Thalassemia

作　　者：李敏清[1] 庞丽红[1] 石凌[1] 陈萍[1] 李树全[1] 林伟雄[1] 蒙春兰[1] 

机构地区：[1]广西医科大学第一附属医院,广西南宁530021

出　　处：《实用妇产科杂志》2008年第3期160-162,共3页Journal of Practical Obstetrics and Gynecology

摘　　要：目的：对有可能生育地中海贫血（地贫）高危胎儿的孕妇，在早孕期经宫颈绒毛活检（TC-CVS）．用于地贫产前诊断，评价TC-CVS在产前诊断中的应用价值。方法：对883例孕9～11周行地贫产前诊断的孕妇进行经宫颈绒毛活检，抽取绒毛行地贫基因分析产前诊断。随访观察孕妇的取材成功率、流产率、感染率。结果：取材成功率95.36％，自然流产率4.3％，宫内感染率1.13％。地贫基因分析共检出重型地贫儿143例，HbH病26例，α和β地贫杂合子共373例。结论：经宫颈绒毛活检是一项安全可行的介入性产前诊断方法，用于早孕期地中海贫血产前诊断，可有效地检出重型地贫儿及各种地贫杂合子。Objective： To evaluate the feasibility and safety of prenatal diagnosis of Thalassemia in first trimester of gestation by Transcervical chorionic villus sampling （TC-CVS）. Methods： 883 cases singleton pregnancies at 9 - 11 gestation weeks with Thalassemia high risk were performed in TC-CVS. After obtaining fetal DNA by chorionic villus sampling, PCR method was used to detect genotypes of Thalassemia, All the women were followed-up until completion of pregnancy. Results：The success rate of TC-CVS was 95.36%. The incidence of operation-associated fetal loss and intrauterine infection was 4,3%. and 1,13 %, separately, The a and 13 globin ganotypes of 842 fetuses were as follows： Severe Thai 143, Hb H disease were 26, Conclusions： TC-CVS appears safe and feasible, and might to be offered in the prenatal diagnosis of Thalassemia in first trimester of gestation.

关 键 词：绒毛膜绒毛取样 妊娠初期 地中海贫血 产前诊断 

分 类 号：R714.254[医药卫生—妇产科学]