巴西新生儿筛查:现实与挑战。

IF 1.5 Q4 GENETICS & HEREDITY
Carolina Fischinger Moura de Souza, Tássia Tonon, Thiago Oliveira Silva, Tania A S S Bachega
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引用次数: 0

摘要

新生儿筛查是一项重要的公共卫生举措,在世界范围内推行,用于在生命早期发现严重的先天性疾病。本研究提供了巴西公共新生儿筛查的最新概况,强调了从最初的试点项目到强有力的国家规划的过渡。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,全国筛查覆盖率显著提高;然而,不同地区之间仍然存在显著差异。圣保罗、米纳斯吉拉斯州、帕拉纳、圣卡塔琳娜州和巴西利亚(联邦区)等州表现出高效率和高覆盖率,而北部地区则继续面临挑战。本研究讨论了这些差异的含义,并强调需要继续努力,以实现普遍和有效的新生儿筛查在巴西。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及时诊断和干预的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Newborn screening in Brazil: realities and challenges.

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.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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