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规划路线:迈向印度全面的新生儿筛查项目

Charting the Course: Towards a Comprehensive Newborn Screening Program in India.

作者信息

Kapoor Seema, Gupta Amit Kumar, Thelma B K

机构信息

Genetic & Metabolic Lab, Division of Genetics, Department of Pediatrics, Lok Nayak Hospital & Maulana Azad Medical College, New Delhi 110002, India.

Department of Genetics, University of Delhi South Campus, New Delhi 110021, India.

出版信息

Int J Neonatal Screen. 2024 Jun 24;10(3):43. doi: 10.3390/ijns10030043.

DOI:10.3390/ijns10030043
PMID:39051399
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11270161/
Abstract

Integrating health interventions in a growing economy like India, with a birth cohort of 27 million/year, one-fifth of all childbirths, and approximately one-third of neonatal deaths globally, is a challenge. While mortality statistics are vital, intact survival and early preventive healthcare, such as newborn screening (NBS), are paramount. The appalling lack of information about the precise burden of metabolic errors at the state/national level or a mandated program encouraged a feasibility study of NBS in a prospective newborn cohort recruited in Delhi State (November 2014-April 2017) using a public-private partnership mode. The major determinants for effective implementation of universal NBS at the national level and limitations encountered are discussed in this report. Data to generate the 'core' panel for screening, sustained training of healthcare personnel, dissemination of the power of NBS to ensure neonatal/societal health to the public, and a 'national policy' emerge as priorities in a developing country.

摘要

在印度这样一个经济不断增长的国家整合卫生干预措施是一项挑战,印度每年有2700万的出生人口,占全球分娩总数的五分之一,新生儿死亡数约占全球的三分之一。虽然死亡率统计至关重要,但完整的生存以及早期预防性医疗保健,如新生儿筛查(NBS),才是重中之重。在国家/州层面,关于代谢性疾病确切负担的信息严重匮乏,也没有强制性项目,这促使我们在德里邦(2014年11月 - 2017年4月)采用公私合作模式招募的前瞻性新生儿队列中开展新生儿筛查的可行性研究。本报告讨论了在国家层面有效实施普遍新生儿筛查的主要决定因素以及遇到的限制。在发展中国家,生成用于筛查的“核心”检测项目的数据、对医护人员进行持续培训、向公众宣传新生儿筛查对确保新生儿/社会健康的作用以及制定“国家政策”成为了优先事项。

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BMC Res Notes. 2024 Jan 4;17(1):16. doi: 10.1186/s13104-023-06584-9.
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Int J Neonatal Screen. 2022 Mar 29;8(2):26. doi: 10.3390/ijns8020026.
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Glob Health Action. 2021 Jan 1;14(1):2001145. doi: 10.1080/16549716.2021.2001145.
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An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use.儿童低血糖概述,包括临床使用的综合实用诊断流程图。
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