杨临 吕海荣 张欣文

【摘要】 目的：分析西安市某三甲綜合医院围生儿出生缺陷的发生率、构成、顺位、变化趋势及相关影响因素，为我国制定出生缺陷的防控措施提供依据。方法：本研究采取描述性研究方法，选取陕西省西安市某三甲综合医院2014-2019年分娩的围生儿的记录以及出生缺陷儿登记的资料，进行回顾性分析。结果：2014-2019年间共监测围生儿68 939例，统计出生缺陷2 093例，出生缺陷发生率为303.6。出生缺陷构成的顺位前五位：先天性心脏病1 360例（197.28）、总唇腭裂108例（15.67）、多指（趾）60例（8.70）、唐氏综合征55例（7.98）、神经管畸形39例（5.66），共占出生缺陷构成的76.21%。其中，先天性心脏病逐年皆位于出生缺陷监测顺位第一。乡村围生儿出生缺陷总发生率高于城镇（字2=619.351，P<0.01）。出生缺陷的影响因素：早产、过期产出生缺陷发生风险高于足月产[OR=12.861，95%CI（11.601，14.258）;OR=4.152，95%CI（2.358，7.311）]。出生缺陷顺位出现一项非前23项主要缺陷类型的缺陷：鞘膜积液。结论：2014-2019年西安市某三甲综合医院围产儿出生缺陷总体发生率高于全国平均水平，先天性心脏病是发病率最高的出生缺陷类型，唇腭裂、多指（趾）、唐氏综合征均整体呈上升趋势。需持续监测出生缺陷，加强三级预防措施，降低出生缺陷的发生，提高我国出生人口素质。

【关键词】 出生缺陷 患病率 监测

Analysis of 2 093 Cases of Birth Defects/YANG Lin， LYU Hairong， ZHANG Xinwen. //Medical Innovation of China， 2021， 18（28）： -178

[Abstract] Objective： To analyze the incidence， composition， order， change trend and related factors of perinatal birth defects in a 3A general hospital in Xi’an， so as to provide basis for the prevention and control of birth defects in China. Method： The descriptive research method was adopted in this study， and the records of perinatal babies delivered in a 3A general hospital in Xi’an， Shanxi Province from 2014 to 2019 and the related data of birth defects registration were selected for retrospective analysis. Result： From 2014 to 2019， a total of 68 939 perinatal infants were monitored， and 2 093 cases of birth defects were counted. The incidence of birth defects was 303.6. The top five birth defects were 1 360 cases （197.28） of congenital heart disease， 108 cases （15.67） of total cleft lip and palate， 60 cases （8.70） of multiple fingers， 55 cases （7.98） of Down syndrome， and 39 cases （5.66） of neural tube malformation， accounting for 76.21% of birth defects. Among them， congenital heart disease ranks first in birth defect monitoring every year. The total incidence of birth defects in rural areas was higher than that in urban areas （字2=619.351， P<0.01）. The influencing factors of birth defects： the risk of birth defects of preterm and overdue delivery was higher than that of full-term delivery [OR=12.861， 95%CI （11.601， 14.258）; OR=4.152， 95%CI （2.358， 7.311）]. There was a defect that was not the first 23 major defect types in the birth defect sequence： hydrocele. Conclusion： The overall incidence of perinatal birth defects in a 3A general hospital in Xi’an from 2014 to 2019 is higher than the national average， congenital heart disease is the highest incidence of birth defects. Cleft lip and palate， polydactyly and Down syndrome are all on the rise. It is necessary to continuously monitor birth defects， strengthen three-level preventive measures， reduce the occurrence of birth defects and improve the quality of our birth population.

[Key words] Birth defects Prevalence Surveillance

First-author’s address： School of Nursing， Xi’an Medical College， Xi’an 710021， China

doi：10.3969/j.issn.1674-4985.2021.28.043

出生缺陷（birth defect）指婴儿出生前发生的身体结构、功能或代谢异常。出生缺陷可以由染色体异常、基因突变等遗传因素或环境因素引起，也可以由这两种因素交互作用或其他不明原因所致[1]。出生缺陷严重影响出生人口的质量，给家庭和社会带来沉重的负担，已成为全世界共同关注的重大公共卫生问题之一。……