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O Programa Nacional do Rastreio Neonatal é um programa de saúde pública que realiza testes de rastreio neonatal de doenças raras em todos os recém-nascidos em Portugal.
No âmbito deste programa nacional, e por se tratar de uma doença cada vez mais disseminada à escala global, em 2021, iniciou-se o estudo-piloto do rastreio neonatal da drepanocitose (anemia de células falciformes). Numa primeira fase foram rastreados apenas os recém-nascidos dos distritos de Lisboa e Setúbal, por se tratar da região do país que ao longo das últimas décadas esteve mais sujeita ao fluxo migratório proveniente de zonas de alto risco para esta patologia, nomeadamente da África subsaariana. Em 2022, o estudo-piloto do rastreio neonatal da drepanocitose foi alargado a todos os recém-nascidos em Portugal, já que no restante território nacional se tem vindo a verificar uma maior fixação de imigrantes, inclusive provenientes das zonas consideradas de risco.
Durante este estudo-piloto foram rastreados 100.000 recém-nascidos, dos quais foram referenciados para Centros de Tratamento 61 casos positivos, com alterações nos perfis de hemoglobina, para avaliação clínica, confirmação do resultado do rastreio neonatal e respetivo tratamento.
Diagnosticaram-se 59 casos de drepanocitose e 2 casos homozigóticos para hemoglobina E.
Os resultados do estudo-piloto do rastreio neonatal da drepanocitose traduzem-se numa prevalência ao nascimento da drepanocitose em Portugal de 1:2.299 recém-nascidos, para a qual contribuem significativamente os distritos de Lisboa e Setúbal, onde obtivemos uma prevalência ao nascimento de 1:978 recém-nascidos.
Com estes resultados podemos concluir que a drepanocitose está cada vez mais disseminada em Portugal, tal como a nível europeu. Esta doença já é considerada um problema de saúde pública e fica assim comprovada a importância da integração do rastreio neonatal da drepanocitose no painel de doenças rastreadas no âmbito do Programa Nacional do Rastreio Neonatal, para que seja possível adotar medidas preventivas o mais precocemente possível.
The Por tuguese Neonatal Screening Program is a national public health program that includes 27 rare diseases, and is per formed on all newborns in Portugal. In 2021, a pilot study for sickle cell anemia (SCA) neonatal screening was started. Initially, only newborns from the districts of Lisbon and Setubal were screened, since this is the region of the country that, over the last few decades, has been more affected by the influx of migrants from high- risk areas for this pathology. In 2022, this pilot study was extended to all regions in Portugal, because other areas of the country are also experiencing a high influx of immigrants considered to be at risk for SCA. During this pilot study, a total number of 100,000 newborns were screened and 61 positive cases were identified with abnormal hemoglobin profiles: fifty-nine cases confirmed positive for SCA and two revealed to be homozygous for E hemoglobin. All these newborns were referred to Treatment Centers for clinical evaluation, confirmation of the neonatal screening result and follow-up. These results indicate a global birth prevalence of 1:2,299 newborns for SCA in Portugal, with the districts of Lisbon and Setubal presenting a birth prevalence of 1:978 newborns, and thus contributing significantly to this number. SCA seems to be increasingly widespread in Portugal, as it is in Europe, where it is already considered a public health problem, and the results of this study support its inclusion in the Portuguese Neonatal Screening Program, thus allowing early therapeutic measures and contributing to a significant improve in the quality of life of SCA patients.
The Por tuguese Neonatal Screening Program is a national public health program that includes 27 rare diseases, and is per formed on all newborns in Portugal. In 2021, a pilot study for sickle cell anemia (SCA) neonatal screening was started. Initially, only newborns from the districts of Lisbon and Setubal were screened, since this is the region of the country that, over the last few decades, has been more affected by the influx of migrants from high- risk areas for this pathology. In 2022, this pilot study was extended to all regions in Portugal, because other areas of the country are also experiencing a high influx of immigrants considered to be at risk for SCA. During this pilot study, a total number of 100,000 newborns were screened and 61 positive cases were identified with abnormal hemoglobin profiles: fifty-nine cases confirmed positive for SCA and two revealed to be homozygous for E hemoglobin. All these newborns were referred to Treatment Centers for clinical evaluation, confirmation of the neonatal screening result and follow-up. These results indicate a global birth prevalence of 1:2,299 newborns for SCA in Portugal, with the districts of Lisbon and Setubal presenting a birth prevalence of 1:978 newborns, and thus contributing significantly to this number. SCA seems to be increasingly widespread in Portugal, as it is in Europe, where it is already considered a public health problem, and the results of this study support its inclusion in the Portuguese Neonatal Screening Program, thus allowing early therapeutic measures and contributing to a significant improve in the quality of life of SCA patients.
Descrição
Palavras-chave
Drepanocitose Rastreio Neonatal Programa Nacional do Rastreio Neonatal PNRN Recém-Nascidos Doenças Genéticas Doenças Raras Programa de Saúde Pública Portugal
Contexto Educativo
Citação
Boletim Epidemiológico Observações. 2024;13(Supl 16): 26-31
Editora
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP