摘要
目的探讨中晚孕期超声筛查唐氏综合征(Down syndrome,DS)的价值。方法回顾分析经羊水或脐血染色体分析确诊为唐氏综合征的32例胎儿的产前系统超声表现。结果 32例唐氏综合征中,超声检出鼻骨发育不良29例,持续伸舌28例,小指中节指骨缺如3例,脐动脉S/D升高13例,肱骨股骨短小9例,颈后皮肤皱褶(NF)增厚9例,胃十二指肠扩张7例,先天性心脏病6例;每例唐氏综合征均有2项以上的不同超声软指标异常表现,尤其以鼻骨异常及持续伸舌阳性率最高,分别为90.63%、87.50%。系统超声筛查唐氏综合征敏感性为96.88%。结论唐氏综合征胎儿中晚孕期可有多项超声改变,其中鼻骨异常及持续伸舌是最常见的表现。
Objective To identify the value of ultrasonographic screening for Down syndrome of fetuses during the second and third trimesters of gestation.Methods We retrospectively analyzed the prenatal ultrasound performance of 32 fetuses,in our department during June 2006 to March 2010 who were diagnosed as Down syndrome by amniotic fluid or umbilical cord chromosome examination.Results There were sonographic markers in the 32 cases of Down syndrome,including nasal bone abnormalities in 29 cases,stretch tongue in 28 cases,increased umbilical artery S/D in 13 cases,increased nuchal fold in 9 cases,shorter femur and humerus in 9 cases and dilated stomach and duodenum in 7 cases,congenital heart disease in 6 cases,and hypoplasia of the middle phalanx of the fifth digit in 3 cases.Everyone of the 32 cases had at least two or more ultrasonographic abnormalities above mentioned.Particularly,the ratios of nasal bone abnormalities and stretch tongue were the highest two,accounting for 90.63% and 87.50% respectively.Systematic ultrasonographic screening,with a sensitivity of 96.88%,is of great value in the diagnosis of Down syndrome for fetuses.Conclusion There were several ultrasound abnormalities in the Down syndrome fetuses during the second and third trimesters of gestation.Nasal bone abnormalities and strech tongue are the most frequently presentations.
出处
《第三军医大学学报》
CAS
CSCD
北大核心
2012年第2期116-118,共3页
Journal of Third Military Medical University
基金
"十一五"国家科技支撑计划(2006BAI05A04)
重庆市人口与计划生育科研课题(2007-1-4)~~
关键词
超声检查
产前
胎儿
唐氏综合征
ultrasonography
prenatal
fetus
Down syndrome
