新生儿先天性心脏病筛查技术的应用现状与实施效果研究

Neonatal Congenital Heart Disease Screening: A Review of Technology Application and Implementation Effectiveness

摘要: 目的：系统综述先天性心脏病(CHD)新生儿筛查的核心技术方法、国内外实施现状与成效，为基层医疗机构优化筛查策略提供参考。方法：检索国内外CHD筛查相关文献，重点分析双指标法(心脏听诊 + 经皮血氧饱和度测定)的技术原理、敏感性特异性数据，以及上海、海南、银川等地的筛查实践模式。同时，收集克拉玛依市中心医院2023~2024年筛查数据进行案例验证。结果：双指标联合筛查敏感度达93.35%、特异度97.30%，显著优于单一指标。上海2017~2021年筛查801,831名新生儿，筛查率99.48%；海南全省筛查率98.88%；银川建立了三级筛查闭环管理体系。克拉玛依市中心医院2023~2024年累计筛查3686例，两年总筛查率98.58%，确诊CHD 63例，无死亡病例，验证了该技术在西部地市级医院的可行性。结论：新生儿CHD筛查是最具成本效益的公共卫生干预之一。双指标法技术成熟、操作简便，适合在全国推广实施。未来需进一步推动筛查技术智能化、完善阳性病例转诊路径，并建立全生命周期健康管理模型。

Abstract: Objective: To systematically review the core technical methods, implementation status, and effectiveness of neonatal screening for congenital heart disease (CHD), and to provide references for optimizing screening strategies in primary healthcare institutions. Methods: Literature on CHD screening was retrieved and analyzed, focusing on the dual-index method (cardiac auscultation + pulse oximetry), and screening practices in Shanghai, Hainan, and Yinchuan. Screening data from Karamay Central Hospital (2023~2024) were collected as a case validation. Results: The dual-index method has a sensitivity of 93.35% and specificity of 97.30%, significantly better than single indicators. From 2017 to 2021, Shanghai screened 801,831 newborns with a coverage of 99.48%; Hainan achieved a provincial coverage of 98.88%; Yinchuan established a three-tier closed-loop management system. Karamay Central Hospital screened 3,686 cases during 2023-2024 with an overall coverage of 98.58%, confirming 63 CHD cases with zero mortality, validating the feasibility of this technology in western municipal hospitals. Conclusion: Neonatal CHD screening is a highly cost-effective public health intervention. The dual-index method is mature, simple to operate, and suitable for nationwide promotion. Future efforts should focus on intelligent screening technologies, improved referral pathways, and full-life-cycle health management models.