北京市严重先天性肾脏畸形二级预防效果分析  

Prenatal diagnosis of severe congenital renal malformation in Beijing

作　　者：张雯[1] 刘凯波[1] 龚泉[1] 徐宏燕[1] 张璐[1] 潘迎[1] 

机构地区：[1]首都医科大学附属北京妇产医院北京妇幼保健院围产保健科,100026

出　　处：《北京医学》2014年第11期923-926,共4页Beijing Medical Journal

摘　　要：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。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.

关 键 词：严重先天性肾脏畸形 产前诊断 超声检出孕周 

分 类 号：R714.5[医药卫生—妇产科学]