妊娠中、晚期超声筛查18-三体综合征  

Ultrasound screening on trisomy 18 syndrome during the second and third trimesters of gestation

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

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11期2137-2140,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18-三体综合征的临床意义。方法在妊娠中期和中晚期对有产前诊断指征的3128名孕妇行羊膜腔或脐带穿刺术检查染色体核型,计算18-三体胎儿的检出率,并分析18-三体与超声异常的关系。结果接受羊膜腔和脐带穿刺的3128名孕妇中,检出18-三体胎儿14胎,检出率0.45%。3128名孕妇中超声异常211名,检出18-三体6胎,检出率2.84%,明显高于唐氏综合征高危者(0)、单纯高龄孕妇者(0)及不良孕产史(0)(P<0.05);超声异常者18-三体检出率(2.84%)与18-三体高风险者18-三体检出率(1.78%)间差异无统计学意义(P>0.05)。结论中、晚孕期超声对筛查18-三体综合征有重要意义。Objective To investigate the clinical significance of ultrasound screening on trisomy 18 syndrome during the second and third trimesters.Methods Amniocentesis and cordocentesis were performed to detect karyotype of the fetus on 3128 pregnant women with indications for prenatal diagnosis during second trimester and late pregnancy.The detection rate of trisomy 18 syndrome was calculated.The relationship between the ultrasonography abnormalities and trisomy 18 syndrome was analyzed.Results In chromosomal karyotypes analysis of 3128 pregnant women by amniocentesis and cordocentesis,14 fetus with trisomy 18 syndrome were detected,the detection rate of trisomy 18 syndrome was 0.45%.There were 211 in 3128 pregnant women with ultrasound abnormality,6 fetus with trisomy 18 syndrome were found and the detection rate（2.84%）was higher than that of Down syndrome high risk group（0）,advanced age group（0）and the history of abnormal deliveries group（0）（all P0.05）.No significant statistical difference of detection rate of trisomy 18 syndrome was found between ultrasound abnormality group（2.84%）and trisomy 18 syndrome high risk group（1.78%,P0.05）.Conclusion During the second and third trimesters of gestation,ultrasonography has great significance in screening trisomy 18 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]