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巴西的新生儿筛查:现实情况与挑战。

Newborn screening in Brazil: realities and challenges.

作者信息

de Souza Carolina Fischinger Moura, Tonon Tássia, Silva Thiago Oliveira, Bachega Tania A S S

机构信息

Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

Casa dos Raros, Porto Alegre, Brazil.

出版信息

J Community Genet. 2025 Jan 10. doi: 10.1007/s12687-024-00762-3.

Abstract

Neonatal screening is a critical public health initiative introduced worldwide to detect severe congenital disorders early in life. This study provides an updated overview of public neonatal screening in Brazil, highlighting the transition from initial pilot projects to a robust national program. Through the analysis of recent data up to 2023, we discuss the coverage and regional efficiencies of the program. Our findings indicate significant improvements in national screening coverage; however, notable disparities persist among different regions. States such as São Paulo, Minas Gerais, Paraná, Santa Catarina, and Brasilia (Federal District) demonstrate high efficiency and coverage rates, while Northern regions continue to face challenges. This study discusses the implications of these disparities and emphasizes the need for continuous efforts to achieve universal and effective neonatal screening across Brazil. The findings underscore the importance of enhancing health policies and resource allocation to ensure timely diagnosis and intervention for all newborns nationwide.

摘要

新生儿筛查是一项在全球范围内推行的关键公共卫生举措,旨在早期发现严重先天性疾病。本研究提供了巴西公共新生儿筛查的最新概况,突出了从最初的试点项目到强大的国家计划的转变。通过分析截至2023年的最新数据,我们讨论了该计划的覆盖范围和区域效率。我们的研究结果表明,全国筛查覆盖率有显著提高;然而,不同地区之间仍存在明显差距。圣保罗、米纳斯吉拉斯、巴拉那、圣卡塔琳娜和巴西利亚(联邦区)等州表现出高效率和覆盖率,而北部地区仍面临挑战。本研究讨论了这些差距的影响,并强调需要持续努力在巴西实现普遍且有效的新生儿筛查。研究结果强调了加强卫生政策和资源分配以确保全国所有新生儿得到及时诊断和干预的重要性。

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