18-三体综合征胎儿孕中期超声特征分析

Analysis of sonographic characteristics of fetus with trisomy 18 syndrome in the second trimester

目的:评估孕中期超声检查对18-三体胎儿的诊断价值。方法:回顾分析本院13年间57例经染色体核型分析确诊为18-三体综合征胎儿的声像图资料,探讨对诊断该病有意义的声像图指标。结果:声像图异常包括室间隔缺损、脉络丛囊肿、宫内生长受限、重叠指、草莓头、单脐动脉、足畸形、羊水过多、小脑发育不良、耳位低置、小下颌和鼻骨发育不良,分别占46%、44%、42%、40%、33%、33%、26%、23%、21%、16%、12%、11%。声像图异常占89%,82%的胎儿均表现为2种及2种以上异常指标。结论:孕中期超声检查对诊断18-三体综合征具有一定的意义,结合染色体核型分析可提高18-三体综合征的产前诊断率,并能降低出生率。

Objective： To evaluate the value of ultrasonography in diagnosis of the fetus with trisomy 18 in the second trimester. Methods： Reviewing the data of the prenatal uhrasonography of 57 fetuses with trisomy 18 syndrome, which were finally diagnosed by karyotype analysis at our hospital in the past thirteen years, exploring the sonographic indicators which were helpful for the diagnosis of this disease. Results： Abnormal uhrasonographic findings included ventricular septal defect, choroid plexus cyst, intrauterine growth retardation, overlapping fingers, strawberry-shaped head, single umbilical artery, abnormal foot, polyhydramnios, cerebellar hypoplasia, low-set ears, nose abnormality, the rate of which is 46%, 44%, 42%, 40%, 33%, 33%, 26%, 23%, 21%, 16%, 12% and 11% respectively. About 89% of fetuses have abnormal ultrasonographic findings, 82% of fetuses showed two or more anomalies. Conclusions： Ultrasonography is effective at detection of fetuses with trisomy 18 syndrome in the second trimester, which can improve the prenatal diagnosis of fetus with trisomy 18 syndrome and de- crease the birth rate of fetus with trisomy 18 syndrome in combination with karyotype analysis.