中、晚孕期超声筛查21-三体综合征的价值和局限性  

Value and limits of ultrasonographic screening for trisomy 21 syndrome during the second and third trimesters of gestation

作　　者：潘玉萍[1] 蔡爱露[1] 关洪波[2] 乔宠[2] 王丽芝[2] 王岳平[3] 赵一理[1] 刘雨函[1] 解丽梅[1] 王晓光[1] 王冰[1] 

机构地区：[1]中国医科大学附属盛京医院超声科,辽宁沈阳110004 [2]中国医科大学附属盛京医院妇产科,辽宁沈阳110004 [3]中国医科大学附属盛京医院遗传室,辽宁沈阳110004

出　　处：《中国医学影像技术》2010年第12期2338-2341,共4页Chinese Journal of Medical Imaging Technology

基　　金：国家科技支撑计划(2006BAI05A04)

摘　　要：目的探讨中、晚孕期超声筛查21-三体综合征的价值和局限性。方法在妊娠中期和中晚期分别对有产前诊断指征的3110和187名孕妇行羊膜腔和脐带穿刺术,检查染色体核型,比较不同穿刺指征孕妇的21-三体检出率,并分析21-三体与超声异常的关系。结果接受羊膜腔穿刺的3110名孕妇中,检出21-三体41名,检出率1.32%,3110名孕妇中超声异常98名,检出21-三体6名,检出率6.12%。超声异常者21-三体检出率(6.12%)明显高于唐氏综合征高危者(0.98%)、单纯高龄孕妇(0.58%,P<0.05)。187名脐血染色体核型分析,检出21-三体9胎,检出率4.81%,187名孕妇中超声异常128名,检出21-三体5胎,检出率3.91%。结论中、晚孕期超声筛查21-三体综合征既有很大的价值,也存在局限性。Objective To investigate the value and limits of ultrasonographic screening for trisomy 21 syndrome during the second and third trimesters. Methods Amniocentesis and cordocentesis were performed on 3110 and 187 pregnant women respectively with indications for prenatal diagnosis,in order to detect karyotype of the fetus during second trimester and late pregnancy. The detection rate of trisomy 21 syndrome was compared in pregnant women of different indications. Relationship between the ultrasonographic abnormalities and trisomy 21 syndrome was analyzed. Results In chromosomal karyotypes analysis of 3110 pregnant women with amniocentesis,41 （1.32%） trisomy 21 syndrome were detected. There were 98 in 3110 pregnant women with ultrasonographic abnormalities,6 （6.12%） trisomy 21 syndrome were found within them,with a detection rate higher than that of the Down syndrome high risk group （0.98%） and advanced age group （0.58%,P0.05）. Within 187 pregnant women of chromosomal karyotypes analysis by cordocentesis,9（4.81%） trisomy 21 syndrome were detected. Among 128 in 187 pregnant women with ultrasonographic abnormalities,5 trisomy 21 syndrome were found and the detection rate was 3.91% （P0.05）. Conclusion During the second and third trimesters,ultrasonography has great value,but still has limits in screening for trisomy 21 syndrome.

关 键 词：羊膜腔穿刺术 脐带穿刺术 核型分析 超声检查 产前 三体性 

分 类 号：R715.5[医药卫生—妇产科学] R445.1[医药卫生—临床医学]