189例唐氏综合征产前超声表现的临床特征  

Clinical characteristics of prenatal ultrasound in 189 fetus with Down's Syndrome

作　　者：杨苑香 曾敏 何倩云[1] 陈敏[1] 陈菲[1] 李南[1] 翦薇[1] 张慧敏[1] 刘维强[1] 李志华[1] Yang Yuanxiang;Zeng Min;He Qianyun et al(Fetal Medicine Department, The Third Affiliated Hospital of Guangzhou Medical University, Key Laboratory for Reproduction and Heredity of Guangdong Province, Key Laboratory of Major Diseases of Guangdong Province, Guangzhou 510150;Maternal and Children Health Hospital of Ganzhou, Ganzhou 341000)

机构地区：[1]广州医科大学附属第三医院胎儿医学科广东省生殖与遗传重点实验室广东省重大疾病重点实验室,广州510150 [2]赣州市妇幼保健院,赣州341000

出　　处：《现代妇产科进展》2018年第3期182-185,共4页Progress in Obstetrics and Gynecology

基　　金：教育部新教师类基金(No:20134423120004);广州市卫生局(No:20131A011156);广州市科信局(No:2014Y2-00176);广东省科技厅(2015年)

摘　　要：目的:总结189例唐氏胎儿的超声表现,分析结构畸形及软指标发生率。方法:回顾分析2010年至2016年在我院确诊为唐氏胎儿的超声结果。将超声指标分为无异常、孤立性软指标异常、结构畸形合并软指标异常、单纯结构畸形(包括单一系统结构畸形及多系统结构畸形)。结果:157例(83%,157/189)超声结果阳性,其中93例(49.2%,93/189)孤立性软指标异常,39例(20.6%,39/189)结构畸形合并软指标异常,25例(13.2%,25/189)为单纯结构畸形。64例(40.8%,64/157)结构畸形中有49例(76.6%,49/64)为单一系统结构畸形,11例(17.2%,11/64)为多系统结构畸形,4例(6.2%,4/64)为单发其他异常。结构畸形中常见的是心血管系统畸形(35.9%,23/64)。早孕期最常见的超声软指标异常是颈后透明层(NT)增厚(71.7%,43/60),鼻骨发育异常(40%,24/60);中孕期检出的超声软指标主要是颈后皮肤(NF)增厚(14.5%,19/131),鼻骨发育异常(27.5%,36/131)。结论:唐氏综合征胎儿以单系统结构畸形为主;早中孕期软指标分别以NT增厚、鼻骨发育不良和鼻骨缺如、NF增厚为主。Objective：To summarize the sonographic characteristics of Down＇s Syndrome fetus,and analyze the incidence rate of structural anomalies and soft markers. Methods：We studied sonographic information of 189 fetuses diagnosed as Down＇s syndrome from 2010 to 2016 in our unit retrospectively.There were 4 groups：normal ultrasound,isolated ultrasound soft markers,structural anormalities with soft markers,structural anormalities without soft markers（including single system and multi-systems structural malformations）.Results：Sonographic anormalities were detected in 157 fetuses（83%,157/189）,93 cases had isolated ultrasound markers（ 49. 2%,93/189）,39 cases had structural malformations and soft markers（ 20. 6%,39/189）,25 cases had isolated structural malformations（ 13. 2%,25/189）. Sixty-four cases had structural anomalies（40.8%,64/157）,including 59 cases had single system structural malformations（76. 6%,49/64）,11 cases had multi-systems structural malformations（ 17. 2%,11/64） and 4 cases had isolated other abnormalities（ 6. 2%,4/64）. The most common structural malformations was cardiovascular system. Sixty fetuses were detected abnormal in the first-trimester ultrasound screening,71. 7%（ 43/60） with thickened nuchal translucency（ NT） and 40 %（24/60） with nasal bone（ NB） hypoplasia. The most common ultrasound markers in the second trimester screening were nasal bone hypoplasia,which accounted for 36 cases（ 27.5%,36/131）,followed by thickened nuchal fold（ NF）（ 14. 5%,19/131）. Conclusions： Single structural malformations was the main abnormalities of Down＇s syndrome. The most common ultrasound markers were thickened NT in the first trimester and thickened NF and NB hypoplasia in the second trimester.

关 键 词：唐氏综合征 超声表现 产前诊断 结构畸形 软指标 

分 类 号：R715.5[医药卫生—妇产科学]