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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 retrospectively analyze the monitoring data of congenital kidney malformations in Beijing from 2008 to 2013 to understand the occurrence and prenatal diagnosis of congenital renal malformations in Beijing and to provide relevant information and evidences for the prevention and control of congenital renal malformations. Methods Descriptive statistics were used to retrospectively analyze the data of birth defects monitoring and ultrasonic diagnosis in Beijing in recent 6 years. Results The incidence of congenital renal malformations in Beijing in the recent 6 years was 1.17 ‰, with a prenatal diagnosis rate of 87.50%. Among them, severe renal malformations (infantile polycystic kidney disease, bilateral renal insufficiency, bilateral polycystic kidney disease, bilateral Renal dysplasia) in the proportion of renal malformations was 7.79%, the incidence was 0.09 ‰, the prenatal diagnosis rate was 97.17%; renal malformations combined chromosomal abnormalities constitute ratio of 1.32%, the incidence was 0.02 ‰, the prenatal diagnosis rate was 100 %, Chromosomal abnormalities dominated the trisomy (composition ratio of 66.67%). Kidney abnormalities were detected by gestational week 20 to 24 weeks pregnant gestational age (constituent ratio was 70.21%), followed by 28 to 34 weeks pregnant (constituent ratio of 12.87%). 92.23% of severe kidney malformations were detected 28 weeks before pregnancy. Conclusion Prenatal ultrasound diagnosis of renal secondary to renal deformity, especially severe secondary prevention effect is significant, should strengthen the genetic diagnosis of children with congenital renal abnormalities.