18-三体综合征胎儿的产前超声筛查

Prenatal ultrasonic screening of fetuses with trisomy 18

目的:评价18三体综合征胎儿的超声表现特征和产前超声筛查的价值。方法:对羊膜腔穿刺或脐血管穿刺确诊为18-三体综合征的27例胎儿超声声像图进行分析。结果:27例18-三体胎儿均表现为胎儿结构异常,每例胎儿可检出四项及四项以上超声异常,最常见的超声改变是心脏畸形,共25例;其它常见的异常包括重叠指17例,单脐动脉11例,小下颌10例,上消化道梗阻9例,脉络丛囊肿及桡骨发育不良或缺如各8例,草莓头7例,小脑发育不良、小脑延髓池扩大、脐膨出及腕关节异常各6例,宫内生长受限11例,羊水过多19例。结论:超声检查是产前筛查18-三体综合征胎儿的有效手段。

Objective ： To evaluate the characteristics of ultrasonic manifestations and value of prenatal ultrasonic screening for fetuses with trisomy 18. Methods： The ultrasonic images of 27 fetuses diagnosed as trisomy 18 definitely by amniocentesis and needle puncture of umbilical blood vessels were analyzed. Results： All the fetuses with trisomy 18 were found with fetal structural abnormality, each fetus was found with four kinds or more than four kinds of ultrasonic abnormalities, the most common ultrasonic abnormalities were cardiac abnormalities, which were found in 25 fetuses; the other common abnormalities included abnormal fingers overlap （17 fetuses） , single umbilical artery （ 11 fetuses）, mierognathia （10 fetuses）, upper gastrointestinal obstruction （9 fetuses）, choroid plexus cyst （8 fetuses）, dysplasia or absence of radius （8 fetuses）, strawberry head （7 fetuses）, cerebellar hypoplasia （6 fetuses） , dilatation of cisterua magna （6 fetuses） , omphalocele （6 fetuses ）, wrist abnormalities （6 fetuses ）, intrauterine growth restriction （11 fetuses ）, and polyhydramnios （19 fetuses ）. Conclusion： Ultrasonographyis an effective method for prenatal screening of fetuses with trisomy 18.