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发展中国家农村地区扩大新生儿筛查的建立:泰国第7和第8卫生区域的模式

The Establishment of Expanded Newborn Screening in Rural Areas of a Developing Country: A Model from Health Regions 7 and 8 in Thailand.

作者信息

Wichajarn Khunton, Sawatjui Nopporn, Prasongdee Prinya, Panklin Amrin, Sornkayasit Kanda, Chungkanchana Natchita, Tessiri Supharada, Wintachai Preawwalee, Dechyotin Sumalai, Pasomboon Chalanda, Ratanapontee Jilawaporn, Thanakitsuwan Sureerat, Rattanathongkom Aree

机构信息

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen 40002, Thailand.

Center of Excellence in Precision Medicine, Srinagarind Hospital, Faculty of Medicine, Khon Kaen University, Khon Kaen 40002, Thailand.

出版信息

Int J Neonatal Screen. 2025 Apr 12;11(2):26. doi: 10.3390/ijns11020026.

Abstract

Expanded newborn screening (NBS) programs are essential for early detection and treatment. This study highlights the implementation of an expanded NBS program for inborn errors of metabolism (IEMs) and congenital hypothyroidism (CH) in rural Thailand, focusing on Health Regions 7 and 8 as a model for resource-limited settings. Using the KKU-IEM web-based platform, the program streamlined workflows, integrating logistics, real-time sample tracking, and electronic data management. Regular training sessions, continuous feedback, and systematic monitoring improved outcomes. Starting from October 2022, the program covered 98.6% of 123,692 live births, identifying 101 CH cases (1 in 1208 live births) and 20 IEM cases (1 in 6100 live births). The CH incidence was slightly higher than Thailand's national average, while the IEM incidence was double that found in a previous Bangkok pilot study. Six cases highlighted maternal conditions affecting outcomes. Process improvements reduced the average reporting time from 9.13 days in 2023 to 8.4 days in 2024, with a 19% reduction in Bueng Kan Province. Efficiencies were driven by electronic ordering, real-time tracking, and stakeholder collaboration. This program demonstrates a scalable model for rural settings, emphasizing technology integration, collaboration, and quality control. Future efforts should refine diagnostics, expand disease coverage, and enhance long-term outcomes.

摘要

扩大新生儿筛查(NBS)项目对于早期发现和治疗至关重要。本研究重点介绍了泰国农村地区针对先天性代谢缺陷病(IEMs)和先天性甲状腺功能减退症(CH)实施的扩大NBS项目,以第7和第8卫生区域作为资源有限地区的典范。该项目利用孔敬大学IEM网络平台简化了工作流程,整合了物流、实时样本追踪和电子数据管理。定期培训、持续反馈和系统监测改善了项目成果。自2022年10月起,该项目覆盖了123,692例活产儿中的98.6%,共识别出101例CH病例(每1208例活产儿中有1例)和20例IEM病例(每6100例活产儿中有1例)。CH发病率略高于泰国全国平均水平,而IEM发病率是此前曼谷试点研究中发现的两倍。有6例突出显示了影响结果的产妇情况。流程改进使平均报告时间从2023年的9.13天缩短至2024年的8.4天,汶干府缩短了19%。效率提升得益于电子订购、实时追踪和利益相关方合作。该项目展示了一种适用于农村地区的可扩展模式,强调技术整合、合作和质量控制。未来的工作应完善诊断方法、扩大疾病覆盖范围并改善长期结果。

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