CAJ | 학술논문

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。
목적：회고분석북경시2008-2013년선천성신장기형감측자료，료해북경시선천성신장기형적발생여산전진단정황，위선천성신장기형적방공제공상관신식급의거。방법채용묘술성통계학분석방법회고성분석근6년북경시출생결함감측급초성진단자료。결과근6년북경시선천성신장기형발병솔위1.17‰，산전진단솔위87.50%；기중，엄중신장기형（영인형다낭신、쌍측신결여、쌍측다낭신、쌍측신발육불량）재신장기형구성비위7.79%，발병솔위0.09‰，산전진단솔위97.17%；신장기형합병염색체이상구성비위1.32%、발병솔위0.02‰、산전진단솔위100%，염색체이상이삼체형위주（구성비위66.67%）。신장기형초성검출잉주이잉20~24주최다（구성비위70.21%），기차위잉28~34주（구성비위12.87%）。엄중신장기형중92.23%우잉28주전피검출。결론북경시산전초성진단대신장기형、우기엄중신장기형적이급예방효과현저，응가강대선천성신장기형환인적유전학진단。
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.