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Newborn screening in Latin America: A brief overview of the state of the art
American Journal of Medical Genetics Seminars in Medical Genetics, Part C ( IF 2.8 ) Pub Date : 2021-03-22 , DOI: 10.1002/ajmg.c.31899
Gustavo J. C. Borrajo 1
Affiliation  

Latin America is a region consisting of 20 countries that present a wide diversity in terms of a geographic area as well as demographics, ethnicity, economy, social, and healthcare systems. This diversity also applies to the newborn screening (NBS) activities, as demonstrated by the start dates and modalities of implementation as organized programs, the panel of diseases screened for, the available technologies for testing, the coverage, the legislation in force, and the degree of development and success reached. Based on these characteristics, Latin American countries can currently be classified into five groups ranging from fully established national programs to no program at all. Sixteen countries have national or regional NBS programs, but up to date only 14 are actively working. The other 2 have organized programs conducted by different health services providers, but without any unified national coordination. Only six countries have coverage ≥ 90% and 12 ≥ 70%. Thirteen countries have legislation in force defining NBS as mandatory. The 16 countries that have active NBS programs screen for congenital hypothyroidism, 14 for phenylketonuria, 12 for congenital adrenal hyperplasia and cystic fibrosis, and 8 for galactosemia. NBS by tandem mass spectrometry is implemented at a national level only in two countries. Despite these disparities, sustained and significant growth has become evident in the last decade, highlighted by the implementation of new programs, the increase in coverage, the expansion of the panel diseases, the enactment of new NBS laws, and the increasing involvement of government and public health authorities.

中文翻译:

拉丁美洲的新生儿筛查:最新技术的简要概述

拉丁美洲是一个由 20 个国家组成的地区,在地理区域以及人口统计、种族、经济、社会和医疗保健系统方面呈现出广泛的多样性。这种多样性也适用于新生儿筛查 (NBS) 活动,正如作为有组织的计划的开始日期和实施方式、筛查的疾病小组、可用的检测技术、覆盖范围、现行立法以及达到了发展和成功的程度。根据这些特点,拉美国家目前可以分为五组,从完全建立的国家计划到根本没有计划。16 个国家拥有国家或地区 NBS 计划,但目前只有 14 个国家在积极开展工作。其他 2 个组织了由不同卫生服务提供者开展的项目,但没有任何统一的国家协调。只有 6 个国家的覆盖率≥ 90% 和 12 个 ≥ 70%。有 13 个国家的现行立法将 NBS 定义为强制性。有活跃 NBS 计划的 16 个国家筛查先天性甲状腺功能减退症,14 个国家筛查苯丙酮尿症,12 个国家筛查先天性肾上腺增生和囊性纤维化,8 个国家筛查半乳糖血症。串联质谱法 NBS 仅在两个国家的国家层面实施。尽管存在这些差异,但在过去十年中持续和显着的增长已经变得明显,尤其是新计划的实施、覆盖范围的扩大、小组疾病的扩大、新的 NBS 法律的颁布以及政府和政府部门的日益参与。公共卫生当局。
更新日期:2021-03-22
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