超声在18-三体综合征产前诊断中的意义

目的 探讨超声在18-三体综合征产前诊断中的意义。方法 对我院1年来经羊水细胞或脐血细胞染色体核型分析确诊为18-三体综合征的5例胎儿超声影像资料进行回顾性分析，评估超声在产前对18-三体综合征胎儿检出的临床价值。结果 5例18-三体综合征患儿至少存在1种以上的超声异常声像。结论 妊娠期超声可检测到18-三体胎儿在形态结构上发生的异常，结合羊水或脐血染色体核型诊断，对于提高18-三体综合征胎儿的产前诊断率，降低严重染色体病缺陷患儿的出生率具有重要意义。

Significance of prenatal ultrasonography in diagnosis of trisomy 18 syndrome

Objective To evaluate significance of prenatal ultrasonography in diagnosis of trisomy 18. Methods The characters of prenatal ultrasonography of five fetuses with trisomy 18 were reviewed, which were finally diagnosed by karyotype analysis at our hospital in the past year. Results At least one abnormal sonographic finding were observed with each of the five fetuses. Conclusions Prenatal ultrasound is effective at detection of fetuses with trisomy 18 and find out those who need further genetic testing. As a non - invasive method, ultrasonography is valuable in increasing the prenatal diagnosis rate of fetus with trisomy 18 and decreasing the delivery rate of fetus with severe chromosomal diseases.