中国出生缺陷监测及其应用

陈志余, 朱军

中国实用妇科与产科杂志 ›› 2026, Vol. 42 ›› Issue (2) : 129-132.

PDF(903 KB)
PDF(903 KB)
中国实用妇科与产科杂志 ›› 2026, Vol. 42 ›› Issue (2) : 129-132. DOI: 10.19538/j.fk2026020101
述评

中国出生缺陷监测及其应用

作者信息 +
文章历史 +

引用本文

导出引用
陈志余, 朱军. 中国出生缺陷监测及其应用[J]. 中国实用妇科与产科杂志. 2026, 42(2): 129-132 https://doi.org/10.19538/j.fk2026020101
中图分类号: R174.5   

参考文献

[1]
卫生部妇幼保健与社区卫生司, 全国妇幼卫生监测办公室, 中国出生缺陷监测中心. 中国出生缺陷地图集(1996-2006)[M]. 北京: 中国地图出版社, 2012.
[2]
Li WY, Chen ZY, Xu WL, et al. Temporal trends in the prevalence of major birth defects in China:a nationwide population-based study from 2007 to 2021[J]. World J Pediatr, 2024, 20(11):1145-1154.DOI:10.1007/s12519-024-00844-9.
Birth defects constitute a significant public health issue worldwide, yet there is a lack of comprehensive population-based data for the Chinese population.
[3]
中华人民共和国卫生部. 中国出生缺陷防治报告2012 [EB/OL]. (2012-09-04)[2026-01-20]. https://www.gov.cn/gzdt/att/att/site1/20120912/1c6f6506c7f811bacf9301.pdf.
[4]
赵一鸣, 史慧静. 出生缺陷监测进展[J]. 实用预防医学, 2019, 26(1):125-127.DOI:10.3969/j.issn.1006-3110.2019.01.036.
[5]
全国妇幼卫生监测办公室/中国出生缺陷监测中心. 全国妇幼健康检测及年报通讯[R/OL]. 成都: 全国妇幼卫生监测办公室,2005:第4期,总第5期.
[6]
朱军. 全国妇幼卫生监测项目管理经验的探讨[J]. 中华医学科研管理杂志, 2002,(3):17-19.DOI:10.3760/cma.j.issn.1006-1924.2002.03.007
[7]
四川大学华西第二医院/华西妇产儿童医院. 全国妇幼卫生监测办公室/中国出生缺陷监测中心部门简介[EB/OL]. [2026-01-20]. https://www.motherchildren.com/depart_qgfyjczxa0_intro/.
[8]
Dai L, Zhu J, Liang J, et al. Birth defects surveillance in China[J]. World J Pediatr, 2011, 7(4):302-310.DOI:10.1007/s12519-011-0326-0.
Birth defects are a global public health problem because of their large contribution to infant mortalities and disabilities. It is estimated that 4%-6% of Chinese newborns are affected by birth defects every year. Surveillance is a basic approach to understanding the occurrence and associated factors of birth defects. The Ministry of Health of China initiated a national hospital-based birth defects monitoring system 20 years ago. Nearly every province in this country has established its own surveillance system in the past. The authors reviewed the result of the monitoring system at different administrative levels in China.Available publications on the surveillance of birth defects and data from national and provincial birth defects surveillance systems were reviewed to evaluate the effectiveness of the surveillance systems.According to the 2009 data, the national hospital-based birth defects surveillance system monitored over 1.3 million births, which accounted for more than 8% of births in China. In addition, 30 provincial hospital-based surveillance programs covered a birth population of more than 3.6 million (22% of births in China). Great achievements have been made in terms of case ascertainment, data quality control, and online reporting. But the surveillance systems in China still have some limitations. A short ascertainment period may miss some internal anomalies, inherited metabolic diseases, and malformed fetus aborted before the 28th gestational week. Discrepancies in antenatal or postnatal diagnosis of birth defects between surveillance institutes may affect the detection rate and introduce biases. Absence of baseline data and lack of integrated database systems limit the application of surveillance data to etiological studies and affect the process of decision-making.The surveillance system for birth defects is prerequisite to propose, conduct and assess any interventions for the disease. To meet the need of study and prevention of birth defects, measures should be taken to improve the national and provincial birth defects surveillance systems in China.
[9]
中华人民共和国卫生部. 2007国家卫生统计调查制度[M]. 北京: 中国协和医科大学出版社, 2007.
[10]
中央广播电视总台央视新闻. 我国已建立出生缺陷三级防治体系重大出生缺陷发生率显著下降[N]. 央视新闻(在线),2024-09-12.
[11]
朱军, 李胜利. 中国出生缺陷图谱[M]. 北京: 人民卫生出版社, 2008.
[12]
代礼, 朱军, 周光萱, 等. 1996-2000 年全国神经管缺陷的动态监测[J]. 中华预防医学杂志, 2002, 36(6):43-46.
[13]
肖坤则, 张芝燕, 高健, 等. 中国神经管缺陷的流行病学[J]. 中华医学杂志, 1989, 69(4):189-191.
[14]
中华人民共和国中央人民政府. 出生缺陷防治把好我国人口健康“第一关”[EB/OL]. (2024-07-11)[2026-01-20]. https://www.gov.cn/yaowen/liebiao/202407/content_6962438.htm.
[15]
Bakker MK, Loane M, Garne E, et al. Accuracy of congenital anomaly coding in live birth children recorded in European health care databases,a EUROlinkCAT study[J]. Eur J Epidemiol, 2023, 38(3):325-334.DOI:10.1007/s10654-023-00971-z.
[16]
Richard MA, Patel J, Benjamin RH, et al. Prevalence and clustering of congenital heart defects among boys with hypospadias[J]. JAMA network open, 2022, 5(7):e2224152.DOI:10.1001/jamanetworkopen.2022.24152.
[17]
Allred RP, Yantz C, Jeon H, et al. Utility of electronic case reporting for case identification in Texas birth defects surveillance[J]. Birth Defects Res, 2025, 117(12):e70004.DOI:10.1002/bdr2.70004.
The utility of electronic case reporting (eCR) in birth defects surveillance is unknown. This evaluation assessed whether electronic initial case reports (eICRs) can serve as a potential case identification source and how eICRs compare to electronic health records (EHRs) in capturing demographic and diagnostic information.
[18]
Farr SL, Riley C, van Zutphen AR, et al. Prevention and awareness of birth defects across the lifespan using examples from congenital heart defects and Spina bifida[J]. Birth Defects Res, 2022, 114(2):35-44.DOI: 10.1002/bdr2.1972.
[19]
陆健, 岳鲁鹏, 宗畅. 浙科大一重点实验室赋能全国首个出生健康管理大模型[N]. 光明日报,2025-02-26.
[20]
田亚平, 张蔓丽, 周红辉. 我国出生缺陷防控领域的进展、机遇与挑战[J]. 解放军医学院学报, 2025, 46(1):16-21.DOI:10.12435/j.issn.2095-5227.24071601.
[21]
温慧莹, 李笑天. 人工智能及机器学习深度算法在产科母胎疾病中的应用[J]. 中国实用妇科与产科杂志, 2024, 40(8):804-809.
[22]
唐雷, 钟世镇. 人工智能及其在医学领域中的应用[J]. 中国实用妇科与产科杂志, 2024, 40(9):876-878.DOI:10.19538/j.fk2024090104.
[23]
陈艳红, 陈敦金. 人工智能——助力产科服务提升[J]. 中国实用妇科与产科杂志, 2024, 40(10):964-968.DOI:10.19538/j.fk2024100102.
[24]
狄文, 金明珠. 人工智能技术在妇产科应用中的思考与挑战[J]. 中国实用妇科与产科杂志, 2025, 41(1):11-14.DOI:10.19538/j.fk2025010104.
[25]
陆尧胜, 李致远, 白杰云, 等. 人工智能在产科全孕程管理中的应用与展望[J]. 中国实用妇科与产科杂志, 2026, 42(1):124-128.DOI:10.19538/j.fk2026010126.

脚注

利益冲突 所有作者均声明不存在利益冲突

基金

四川省卫生健康委员会科技项目(23LCYJ012)

PDF(903 KB)

Accesses

Citation

Detail

段落导航
相关文章

/