Genetic services and testing in Brazil

Horovitz, Dafne Dain Gandelman; Ferraz, Victor Evangelista de Faria; Dain, Sulamis; Marques-de-Faria, Antônia Paula

doi:10.1007/s12687-012-0096-y

Cited by 84 publications

(103 citation statements)

References 18 publications

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“…Apesar da baixa prevalência, possuem importância clínica e epidemiológica para a saúde da criança. Estudos sobre morbidade infantil indicam que os transtornos genéticos e as malformações passaram da quinta para a segunda causa de óbitos em menores de um ano no Brasil entre os anos de 1980 e 2006, devido principalmente à redução proporcional dos óbi-tos por causas infecciosas e respiratórias 6 .…”

Section: Introductionunclassified

Avaliação de desfechos perinatais/infantis em partos de pacientes com transtornos mentais maiores de um hospital psiquiátrico do Rio de Janeiro, Brasil

et al. 2014

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Desfechos perinatais/infantis constituem as principais causas de morbi-mortalidade infantil em países em desenvolvimento como o Brasil. Dentre os fatores de risco, está a presença de transtornos mentais maternos. Foi realizado um estudo longitudinal retrospectivo baseado no seguimento passivo por meio do método de linkage probabilístico para verificar a prevalência de desfechos perinatais/infantis em pacientes internadas em um hospital psiquiátrico público do Rio de Janeiro, Brasil, que tiveram partos durante o período de 1999 a 2009. As prevalências encontradas foram: baixo peso ao nascer (27,6%), prematuridade (17,4%), malformações (2,5%), óbitos fetais (4,8%) e neonatais (3,7%), sendo fatores associados o cuidado pré-natal insatisfatório, a presença de esquizofrenia e a baixa renda familiar. Os resultados reforçam que a prevalência de desfechos perinatais/infantis é elevada em mães com transtornos mentais maiores, sendo fundamental o rastreamento de sintomas psiquiátricos e o acompanhamento especializado por profissionais da saúde mental durante a assistência pré e pós-parto.

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Section: Introductionunclassified

Avaliação de desfechos perinatais/infantis em partos de pacientes com transtornos mentais maiores de um hospital psiquiátrico do Rio de Janeiro, Brasil

et al. 2014

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“…A number of institutions have sophisticated laboratory infrastructures and offer diagnostic testing, including cytogenetic and molecular genetic analyses. Specialists in medical genetics tend to aggregate within the major service centers located in the Center-South of the country, which in practice means that a majority of Brazilian states have few or no resident trained professionals in clinical genetics (Horovitz et al, 2012).…”

Section: Medical Genetics Services In Brazilmentioning

confidence: 99%

Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil

Acosta

Abe‐Sandes

Giugliani

et al. 2013

Journal of Genetic Counseling

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“…According to the literature, the percentage of malformed births remained stable over the past decades (Horovitz et al 2012). The perception of increased number of children with malformations expressed by the focus groups probably comes from the improvement in diagnosis and treatment of such conditions and by the increased survival of the affected ones (Herrera et al 2001, Dastgiri et al 2002.…”

Section: The New Geneticsmentioning

confidence: 99%

“…Active measures for the prevention of birth defects, on the other hand, such as the use of folic acid and rubella vaccination are little known, reinforcing the need to be better publicized. Abortion in cases of congenital malformation was not even considered as an option, possibly because Brazil is historically a Catholic/Christian country, and abortion is still considered illegal, with very few exceptions (Horovitz et al 2012).…”

Section: Final Considerationsmentioning

confidence: 99%

Conceptions on genetics in a group of college students

et al. 2012

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The purpose of this study was to investigate awareness, beliefs, and opinions on genetics in a group of Brazilian college students from several courses. The study used the focus group technique with the participation of 19 students, divided into four groups. Also, it used the isotopic reading technique to analyze the material. The results were divided in four themes: the basic knowledge of genetics, the "new genetics," including molecular biology and testing, genetic manipulation, and genetics and the media. The participants showed reasonable knowledge on the subject, obtained from various sources, including the printed press, the internet, documentaries, and fictional TV shows. Ethical issues were discussed comprehensively and the groups showed awareness on the hazards brought by genetic reductionism and the need to have some type of regulation regarding genetic manipulation and testing. It is necessary to broaden the debate about the progress in genetics because some of them will affect a significant number of people. This debate should include the lay public, which has been actively participating in decisions involving research and the use of new technologies.

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Genetic services and testing in Brazil

Cited by 84 publications

References 18 publications

Avaliação de desfechos perinatais/infantis em partos de pacientes com transtornos mentais maiores de um hospital psiquiátrico do Rio de Janeiro, Brasil

Avaliação de desfechos perinatais/infantis em partos de pacientes com transtornos mentais maiores de um hospital psiquiátrico do Rio de Janeiro, Brasil

Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil

Conceptions on genetics in a group of college students

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