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目的:分析浙江省鄞州区近5年出生缺陷情况及干预措施,为下一步决策提供依据。方法:根据《主要畸形手册》中制定的24类主要出生缺陷的诊断标准,由区妇幼保健所审核全区近5年《出生缺陷报告卡》、产前筛查资料和围产保健册。全部数据录入EXCEL数据库,组间用χ2检验。结果:5年共发现出生缺陷612例,总出生缺陷发生率23.5‰;前4位出生缺陷依次为先天性心脏病、指(趾)畸形、总唇裂和生殖道畸形;男性发生率高于女性(χ2=19.92,P<0.05);出生缺陷儿死亡占全部围产儿死亡53.8%;产前筛查中血生化筛查覆盖率达90%,每年发现的高风险孕妇约在7.2%～10.5%,其出生缺陷发生率显著高于群体发生率(χ2=19.34,P<0.001);产前超声筛查覆盖率已达98.5%,诊断缺陷137例,诊断率为22.4%;最易发现的缺陷类型和诊断率依次为:神经管畸形(包括脑积水)70.6%、泌尿系统疾病57.1%、总唇裂30.3%、先天性心脏病14.0%。治疗性引产前4年一直徘徊在10%～12%之间,2009年有所上升,达16.5%。结论:鄞州区近5年出生缺陷发生率高并上升明显;产前筛查覆盖率高而诊断率低,应加强以提高产前诊断水平为重点的一二级干预措施。
Objective: To analyze the birth defects and intervention measures in recent five years in Yinzhou District of Zhejiang Province, and provide the basis for the next decision-making. Methods: According to the diagnostic criteria of 24 major birth defects stipulated in “Manual of Major Deformities”, the district MCHR reviewed the “Birth Defects Report Card”, prenatal screening data and perinatal care book for nearly 5 years in the district. All data entry EXCEL database, between groups using χ2 test. Results: A total of 612 birth defects were found in 5 years, the total incidence of birth defects was 23.5 ‰. The first 4 birth defects were congenital heart disease, digital deformity, total cleft lip and genital tract deformity. The incidence of male was higher than that of female (χ2 = 19.92, P <0.05). The deaths of birth defects accounted for 53.8% of all perinatal deaths. The coverage of blood biochemistry screening in prenatal screening reached 90%, and the high risk pregnant women found in each year ranged from 7.2% to 10.5% , The incidence of birth defects was significantly higher than the incidence of the group (χ2 = 19.34, P <0.001); prenatal ultrasound screening coverage has reached 98.5%, 137 cases of diagnostic defects, the diagnostic rate was 22.4%; the most easily found defects The types and diagnostic rates were as follows: 70.6% of neural tube defects (including hydrocephalus), 57.1% of urinary system diseases, 30.3% of total cleft lip and 14.0% of congenital heart disease. In the first 4 years of therapeutic induced abortion, it has been hovering between 10% and 12%, with an increase of 16.5% in 2009. Conclusions: Yinzhou District has a high incidence of birth defects in the recent 5 years and increases significantly. The prenatal screening coverage is high and the diagnosis rate is low. The first and second interventions that focus on improving the prenatal diagnosis should be strengthened.