目的了解海安县出生缺陷发生情况。方法采用描述性流行病学方法,对出生缺陷资料进行分析。结果 2008—2012年海安县共监测围产儿27 074例,其中出生缺陷153例,死亡21例,出生缺陷发生率为56.5/万,死亡率为7.76/万,均呈下降趋势。围产儿缺陷率男性高于女性,差异有统计学意义(P<0.05)。居前5位的出生缺陷疾病依次为:多指并指(趾)、唇腭裂、先天性心脏病、小耳、直肠肛门闭锁或狭窄(包括无肛)。<20岁和≥35岁孕产妇围产儿出生缺陷发生率较高,25~30岁发生率较低,差异有统计学意义(P<0.05)。结论海安县出生缺陷发生率、死亡率均呈下降趋势,未来须加强婚前、孕早期保健,提高产前诊断水平和筛查水平,做好出生缺陷的各级预防工作,减少出生缺陷的发生。 Objective To understand the occurrence of birth defects in Haian County. Methods Descriptive epidemiological methods were used to analyze birth defects data. Results From 2008 to 2012, a total of 27 074 cases of perinatal were detected in Hai’an County. Of them, 153 cases were born defects and 21 died. The incidence of birth defects was 56.5 per thousand and the death rate was 7.76 per thousand, all showing a decreasing trend. The rate of defect in perinatal children was higher than that in women, the difference was statistically significant (P <0.05). The top 5 birth defects were as followed: multiple fingers and fingers, cleft lip and palate, congenital heart disease, small ears, anorectal closure or stenosis of the rectum (including no anus). The incidence of perinatal birth defects in children <20 years old and ≥35 years old was higher, and the incidence was lower in 25-30 years old (P <0.05). Conclusion The incidence of birth defects and death rate in Hai’an County are on the decline. In the future, it is necessary to strengthen premarital and early pregnancy health care, raise the level of prenatal diagnosis and screening, make all levels of prevention of birth defects and reduce the incidence of birth defects.