21-三体综合征胎儿产前超声诊断价值(附152例分析)  

The diagnostic value of Fetal prenatal ultrasonography in 21 trisomy syndrome: analyses of 152 cases

作　　者：吴斯瑶 陈秋妍[1] 谢润桂[2] 林洋洋[2] 郭红梅[1] 徐秋红[1] 朱荷香 WU Siyao;CHEN Qiuyan;XIE Rungui;LIN Yangyang;GUO Hongmei;XU Qiuhong;ZHU Hexiang(Department of Ultrasound,Dongguan Maternal and Child Health Hospital,Guangdong 523000,P.R.China;Prenatal Diagnosis Center,Dongduan Maternal and Child Health Hospital,Dongduan 523000,P.R.China)

机构地区：[1]广东省东莞市妇幼保健院超声科,广东东莞523000 [2]广东省东莞市妇幼保健院产前诊断中心,广东东莞523000

出　　处：《医学影像学杂志》2018年第3期459-463,467,共6页Journal of Medical Imaging

基　　金：2014年广东省东莞市社会科技发展项目(编号:2014108101016);2016年广东省东莞市科技计划立项课题(编号:2016105101069)

摘　　要：目的通过对152例21-三体综合征胎儿产前超声征像分析,探讨超声诊断胎儿21-三体综合征的临床价值。方法回顾性分析152例经本院产前诊断中心确诊的21-三体综合征胎儿,分析其不同孕期及不同级别产前超声特点。结果本文早孕超声筛查49例,超声异常45例(91.84%,45/49),主要征像是颈项透明层增厚35例(71.43%,35/49),鼻骨发育异常28例(57.14%,28/49);中孕胎儿畸形筛查61例(包括15例同时接受早、中孕两次筛查),超声异常47例(77.05%,47/61),主要征像包括鼻骨发育异常21例(34.43%,21/61),颈项软组织厚度增厚20例(32.79%,20/61),左心室强光斑18例(29.51%,18/61),小指第二指节发育不良12例(19.67%,12/61),股骨及肱骨短小11例(18.03%,11/61),上述超声软指标可合并以下结构畸形,包括心脏畸形8例(13.11%,8/61),十二指肠梗阻4例(6.56%,6/61),颈部淋巴水囊瘤1例(1.64%,1/61)。Ⅰ级一般产前超声检查57例,超声异常6例(10.53%,6/57)。早孕筛查组超声阳性率与中孕筛查组差别有统计学意义,P<0.05,早孕筛查组、中孕筛查组超声阳性率分别与Ⅰ级一般超声组比较,差别有统计学意义,P<0.001。结论 21-三体综合征产前超声表现以发现多发软指标为主,部分病例可合并结构畸形,规范化产前超声筛查可提高21-三体胎儿诊断率,降低21-三体出生率。Objective Via the analyses of the signs of prenatal ultrasonography of 152 cases of 21 trisomy syndrome,to investigate the clinical value of ultrasonography in the prenatal diagnosis of this disorder.Methods We retrospectively analyzed the manifestations of fetal prenatal ultrasonography of 152 fetuses cases with 21 trisomy syndrome,who were confirmed in the prenatal diagnostic center of our hospital.Also,we analyzed the prenatal ultrasonographic characteristics at different pregnant periods and levels.Results In this work,45 cases(91.84%,45/49)presented with ultrasonic anomalies among 49 cases in the first-trimester ultrasound screening.Their main manifestations were the thickened nuchal translucency in 35 cases(71.43%,35/49),nasal bone hypoplasia in 28 cases(57.14%,28/49).47 cases(77.05%,47/61)presented with ultrasonic anomalies among 61 cases in the second-trimester ultrasound screening,including 15 who were accepted the first and second trimester ultrasound screening.Their main manifestations were the nasal bone hypoplasia in 21cases(34.43%,21/61),thickened nuchal fold in 20 cases(32.79%,20/61),echogenic intracardiac focus in 18 cases(29.51%,18/61),dysplasia with middle phalanx of the little finger in 12 cases(19.67%,12/61),short femur and humerus in 11 cases(18.03%,11/61).The aforementioned ultrasound parameters can combined with the following structural deformity,including cardiac malformation in 8 cases(13.11%,8/61),duodenal obstruction in 4 cases(6.56%,4/61),cystic hygroma of the neck in 1 case(1.64%,1/61).6 cases(10.53%,6/57)presented with ultrasonic anomalies in 57 cases in the general ultrasound examination.The positive rate was different between the first-trimester and the second-trimester screening(P<0.05).The positive rate was significantly different between the first-trimester,the second-trimester screening,and the general ultrasound examination(P<0.001).Conclusion Multiple ultrasound parameters can be detected by prenatal ultrasound diagnosis for screening 21 trisomy syndrome.In some cases,these

关 键 词：21-三体综合征 超声诊断 早孕筛查 

分 类 号：R445.1[医药卫生—影像医学与核医学] R814.43[医药卫生—诊断学]