Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future challenges.

IF 1.5 Q4 GENETICS & HEREDITY

Journal of Community Genetics Pub Date : 2025-02-11 DOI:10.1007/s12687-025-00775-6

Lavínia Schuler-Faccini, Simone de Menezes Karam, Maria Teresa Vieira Sanseverino, Marcia Helena Barbian, Julia do Amaral Gomes, João Matheus Bremm, Augusto César Cardoso-Dos-Santos, Claudia Fernandes Lorea, Karina Carvalho Donis, Ricardo Rohweder, Laércio Moreira Cardoso-Junior, Julia Cavalcante do Carmo, Paulyana Dos Santos Corecco-Moura, Fabyanne Guimarães de Oliveira, Rayhele Rodrigues de Oliveira, Vânia Mesquita Gadelha Prazeres, Juliana Herrero da Silva, Nitza Ferreira Muniz, Ayoade Desmond Babalola, Laysa Kariny Krieck, Angel Larroza de Souza, Emilly de Jesus Garcia Ataíde, Lucia Andreia Nunes de Oliveira, Giovanny Vinícius de Araújo França

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引用次数: 0

Abstract

Brazil is a middle-income country with approximately 210 million inhabitants, with around 2,900,000 births annually. Besides its extensive territorial area, the country is characterized by huge heterogeneity in many aspects, notably in socioeconomic status, education, access to healthcare, geographic mobility, different biomes, agricultural practices and diverse ethnic ancestry. These characteristics directly impact the frequency and distribution of genetic disorders and Congenital Anomalies (CA), which are the second leading cause of death in the first year of life. In this review, we will present the main initiatives and available information from governmental organs and scientific research in Brazil regarding the epidemiology of congenital anomalies and rare diseases, emphasizing teratogenic risk factors and population medical genetics aspects.

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巴西先天性异常和罕见病的流行病学监测：现状和未来挑战。

巴西是一个中等收入国家，拥有约2.1亿居民，每年约有290万新生儿。除了幅员辽阔之外，该国的特点是在许多方面存在巨大的差异，特别是在社会经济地位、教育、获得医疗保健的机会、地理流动性、不同的生物群落、农业做法和不同的族裔血统方面。这些特征直接影响到遗传疾病和先天性异常的频率和分布，这是生命第一年死亡的第二大原因。在这篇综述中，我们将介绍巴西政府机构和科学研究在先天性异常和罕见病流行病学方面的主要举措和现有信息，强调致畸风险因素和人口医学遗传学方面。

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来源期刊

Journal of Community Genetics GENETICS & HEREDITY-

CiteScore

3.30

自引率

5.30%

发文量

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.