围生儿出生缺陷诊疗现状和相关影响因素多中心调查研究  

A multi-center study on the current status of perinatal birth defects diagnosis and treatment and related influencing factors

作　　者：李桂华 包晓玲 赵智[1] LI Guihua;BAO Xiaoling;ZHAO Zhi(Department of Neonatology,Shaanxi Provincial People’s Hospital,Xi’an,Shaanxi 710068,China;Graduate School of Xi’an Medical University,Xi’an,Shaanxi 710021,China;Department of Neonatology,Weinan Maternal and Child Health Hospital,Weinan,Shaanxi 715600,China)

机构地区：[1]陕西省人民医院新生儿科,陕西西安710068 [2]西安医学院研究生院,陕西西安710021 [3]渭南市妇幼保健院新生儿科,陕西渭南715600

出　　处：《中国优生与遗传杂志》2024年第12期2621-2625,共5页Chinese Journal of Birth Health & Heredity

基　　金：陕西省人民医院科技人才支持计划拔尖人才项目(2022BJ-10)。

摘　　要：目的本研究旨在了解陕西省部分地区围生儿出生缺陷的发生情况及近年变化趋势,为出生缺陷的科学防控提供理论依据。方法回顾性收集2018—2022年陕西省不同层级医疗机构近5年的出生缺陷数据进行多中心分析,明确出生缺陷发生率、出生缺陷疾病谱及相关影响因素。结果本研究结果显示3个中心近5年出生缺陷发生率总体呈下降趋势,从2018年的226.32/万下降到2022年的213.26/万;协作中心出生缺陷顺位前五名为先天性心脏病、多/并指(趾)、唇(腭)裂、鞘膜积液及尿道下裂;孕次、胎龄、性别、母亲年龄可能是影响出生缺陷的主要原因。结论陕西省部分地区出生缺陷防控形势仍严峻,应加强宣传教育,完善产前筛查体系、提升医务人员技能,并加强病因学研究,以期降低出生缺陷发生率,提高人口素质。Objective To learn the occurrence of perinatal birth defects in Shaanxi Province and the trend of change in recent years,so as to provide a theoretical basis for the scientific prevention and control of birth defects.Methods Retrospective collection of birth defects data from different levels of medical institutions in Shaanxi Province in the past five years from 2018 to 2022 for multicenter analysis,and to clarify the incidence of birth defects,the disease spectrum of birth defects,and related influencing factors.Results The results of this study show an overall decreasing trend in the incidence of birth defects in the last 5 years in the three centers,from 226.32 per 10000 in 2018 to 213.26 per 10000 in 2022.The top five birth defects in the collaborating center are congenital heart disease,multiple/unionized fingers(toes),cleft lip(palate),syringomyelia and hypospadias.The number of pregnancies,gestational age,sex,and age of the mother may be the main causes of birth defects.Conclusion The situation of birth defects prevention and control in Shaanxi Province is still serious,and publicity and education should be strengthened,the prenatal screening system should be improved,the skills of medical personnel should be upgraded,and the etiological research should be strengthened in order to reduce the incidence of birth defects and improve the quality of the population.

关 键 词：围生儿 出生缺陷 发生率 多中心研究 

分 类 号：R174[医药卫生—妇幼卫生保健]