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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20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 ultrasonographic features of fetus with 18-trisomy syndrome and to explore its role in prenatal diagnosis. Methods From January 2009 to June 2015 in Yinchuan City Maternal and Child Health Hospital Prenatal Diagnosis Center, the karyotype analysis of 20 cases of trisomy 18 cases were retrospectively analyzed. Results Twenty cases of 18-trisomy syndrome had more than one sonographic abnormalities. The most common structural abnormalities were limb deformities (70%), followed by heart malformations (60%). The common ultrasonographic indexes were choroid plexus 40%) and single umbilical artery (30%). The abnormal signs of nonspecific ultrasound were polyhydramnios (25%) and intrauterine growth retardation (30%). Conclusion Twenty cases of 18-trisomy have abnormalities of ultrasound, and many abnormalities are the main ones. Ultrasonography is an effective prenatal screening method for 18-trisomy syndrome, which can help to improve prenatal diagnosis of fetal chromosomal abnormalities .