目的 了解北京市通州区2006~2012 年出生缺陷患病率的变化趋势和流行特征,为出生缺陷预防提供参考依据.方法 依据2006~2012 年北京市通州区出生缺陷监测系统资料,对出生缺陷的患病率及变化趋势等进行统计学分析,同时计算出生缺陷产前检出比例.结果 7 年间共监测到活产儿92 340 例,出生缺陷儿1 165 例,患病率为12.62‰,呈上升趋势(χ²= 6.77,P<0.01).户籍人口的出生缺陷患病率(11.55‰)低于流动人口(13.27‰),前者无趋势性变化,后者呈上升趋势(χ²= 25.02,P<0.01).出生缺陷患病率前5位分别是先天性心脏病、多指(趾)、唇腭裂、神经管缺陷、外耳畸形.先天性心脏病和“其他”类别的出生缺陷患病率呈上升趋势,而神经管缺陷患病率呈下降趋势.先天性心脏病产前检出比例逐年上升(χ²= 14.80,P<0.01).结论 2006~2012 年北京通州区出生缺陷患病率呈上升趋势,主要与流动人口出生缺陷率上升,监测出生缺陷类型不断扩展以及先天性心脏病诊断水平提高有关.

Objective To study the dynamic prevalence and epidemiological characteristics of birth defectsdistribution in the Tongzhou District of Beijing between 2006 and 2012. Methods Data collected from the birthdefects surveillance system in the Tongzhou District of Beijing between 2006 and 2012 were used. The prevalenceand trends of birth defects were analyzed, also the proportion of birth defects in prenatal diagnosis was calculated.Results Between 2006 and 2012, 1 165 cases of birth defects were identified among 92 340 births, with a prevalenceof 12.62‰. The prevalence of birth defects showed an increased trend during the seven years (χ²=6.77, P<0.01). Theprevalence in the flowing population (13.27‰) was higher than that in the permanent residents (11.55‰), and the formershowed an upward trend during the seven years (χ²=25.02, P<0.01). The top five birth defects were congenital heartdefects, polydactyly, cleft lip and/or palate, neural tube defects, and external ear malformation in turn. The prevalenceof congenital heart defects and the unspecified congenital malformation increased while that of neural tube defectsdecreased. There was also an upward trend of the prenatal diagnosis for congenital heart defects (χ²=14.80, P<0.01).Conclusions The prevalence of birth defects increased in the Tongzhou District of Beijing from 2006 to 2012, andit was mainly caused by the increased prevalence of birth defects in the flowing population, the increased number ofunspecified birth defects and the improvement of diagnosis technology for congenital heart defects.