摘要
目的探讨孕中期胎儿超声异常对于筛检胎儿染色体异常的产前诊断价值。方法对2011年2月至2016年11月因超声检出异常而行羊水染色体核型分析的148例胎儿进行回顾性分析,分析超声异常指征中异常核型的检出率及类型。结果148例孕妇中检出染色体异常36例,检出率为24.3%(36/148)。其中非整倍体异常27例,占75.0%(27/36)。结构异常9例,占25.0%(9/36)。最主要的超声异常指征主要有心脏畸形、全身水肿、脑室扩张、单脐动脉、肾盂扩张、鼻骨缺失及颈部淋巴水囊瘤。结论超声异常是筛检胎儿羊水染色体异常的关健指征,其中心脏畸形、全身皮肤水肿及鼻骨缺失是染色体异常检出率最高的指征。当超声异常指征同时出现两项或以上时,染色体异常发生率也会明显增加。
Objective：To explore the chromosomal abnormality of fetal ultrasound anomaly in second trimester at prenatal diagnosis. Methods：reviewed and analyzed 148 cases of ultrasound anomalies via chromosomal karyotyping from February 2011 to November 2016. Results：36 cases of chromosomal abnormalities were detected among 148 pregnancies,detect rate was 24.3%（36/148）. Of which aneuploidies were 27 cases,structural abnormal 9 cases. Conclusion：Ultralsound abnormality paly an important role to detect fetal chromosomal abnormality at prenatal diagnosis. The detect rate of Cardiac malformation and Nasal bone absence were highest among ultrasound abnormalities.
出处
《中国优生与遗传杂志》
2017年第9期78-79,共2页
Chinese Journal of Birth Health & Heredity
关键词
超声异常
核型分析
产前诊断
Ultrasound anomaly
Prenatal diagnosis
Karyotyping
