北京市严重先天性肾脏畸形二级预防效果分析

目的：回顾分析北京市2008-2013年先天性肾脏畸形监测资料，了解北京市先天性肾脏畸形的发生与产前诊断情况，为先天性肾脏畸形的防控提供相关信息及依据。方法采用描述性统计学分析方法回顾性分析近6年北京市出生缺陷监测及超声诊断资料。结果近6年北京市先天性肾脏畸形发病率为1.17‰，产前诊断率为87.50%；其中，严重肾脏畸形（婴儿型多囊肾、双侧肾缺如、双侧多囊肾、双侧肾发育不良）在肾脏畸形构成比为7.79%，发病率为0.09‰，产前诊断率为97.17%；肾脏畸形合并染色体异常构成比为1.32%、发病率为0.02‰、产前诊断率为100%，染色体异常以三体型为主（构成比为66.67%）。肾脏畸形超声检出孕周以孕20~24周最多（构成比为70.21%），其次为孕28~34周（构成比为12.87%）。严重肾脏畸形中92.23%于孕28周前被检出。结论北京市产前超声诊断对肾脏畸形、尤其严重肾脏畸形的二级预防效果显著，应加强对先天性肾脏畸形患儿的遗传学诊断。

Prenatal diagnosis of severe congenital renal malformation in Beijing

Objective To understand the occurrence and prenatal diagnosis of congenital renal malformation in Beijing through the analysis of the congenital renal malformation monitoring data during 2008-2013. Methods The data of the birth defects monitoring and diagnosis were retrospectively analyzed. Results The incidence of congenital re-nal malformations was 1.17‰, the prenatal diagnosis rate was 87.50%. The incidence of severe congenital re-nal malformations （infantile polycystic kidney, bilateral renal agenesis, bilateral polycystic kidney, renal dysplasia） was 0.09‰, prenatal diagnosis rate was 97.17%, constituent ratio was 7.79%. The incidence of renal malformations associated with chromosomal abnormalities was 0.02‰, prenatal diagnosis rate was 100%, constituent ratio was 1.32%. Among con-genital renal malformations, the premier weeks detected by ultrasound were 20~24 weeks gestational age （70.21%）, the second were 28~34 weeks gestational age （12.87%）. Among severe congenital renal malformation, 92.23% were detected before 28 weeks. Conclusion The effect of secondary prevention for renal malformations, especially severe re-nal malformations, is significant in Beijing. Prenatal ultrasonography plays an important role in secondary prevention. Ge-netic diagnosis should be enhanced.