18-三体综合征胎儿超声表现分析

Analysis on the sonographic findings of fetuses with trisomy 18 during pregnancy

目的分析18-三体综合征胎儿的超声表现特征，探讨其在产前诊断中的作用。方法对2009年1月～2015年6月在银川市妇幼保健院产前诊断中心，经染色体核型分析确诊为18-三体综合征的2O例胎儿进行回顾性分析。结果20例18-三体综合征胎儿均有一项以上超声异常表现，最常见的结构异常为肢体畸形（70％），其次为心脏畸形（60％）；常见的超声软指标为脉络丛囊肿（40％）及单脐动脉（30％）；非特异性超声异常征象有羊水过多（25％）及宫内生长发育迟缓（30％）。结论20例18-三体胎儿均有超声异常表现，且以多项异常为主，超声检查是产前筛查18-三体综合征的有效手段，有助于提高胎儿染色体异常的产前诊断。

Objective： To analyze the sonographic findings of fetuses with trisomy 18 during pregnancy, to explore its effect in the prenatal diagnosis. Methods： To perform retrospective analyses on 20 cases of fetuses diagnosed to suffer from trisomy 18 during pregnancy. These diagnosis were done in the hospital from January 2009 to June 2015. Results： at least one sonographic abnormal can be observed each of the 20 cases of fetuses suffering from trisomy 18. The structural abnormality most commonly seen is limb deformity （70%） and cardiac defects （60%） . The multiple soft markers often observed are choroid plexus cysts （40%） and intrauterine growth retardation （30%） . The non-specific sonographic abnormalities include intrauterine growth retardation （30%） and polyhydramnios （25%） . Conclusion： All the fetuses with trisomy 18 inspected possesses sonographic abnormalities, and most of them have more than one among the abnormalities mentioned. Ultrasonic inspection is an effective method in the screening of trisomy 18, and can help improve the accuracy of the prenatal diagnosis of fetal chromosomal abnormalities.