Triagem neonatal: ficção ou realidade?

Meirelles, Ricardo M.R.

doi:10.1590/s0004-27302000000200002

Cited by 7 publications

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“…12 Na literatura científica existem poucos trabalhos que avaliam o Programa de Triagem Neonatal e, embora estejam claros os seus benefícios para o diagnóstico precoce das hemoglobinopatias e orientação das famílias de neonatos portadores de tais patologias, não são raros os estudos que apontam falhas nesses programas. 2,8,17,19,20,22 Como apropriadamente discutido por Meirelles, 11 as análises críticas são necessárias e benéficas e possibilitam modificações que favorecem o melhor desempenho desses programas. Assim, frente à alta morbidade das hemoglobinopatias e do grande impacto que o diagnóstico precoce exerce nas taxas de morbi-mortalidade das mesmas, o presente estudo objetiva avaliar a efetividade do Programa de Triagem Neonatal para hemoglobinopatias no município de Dourados, MS, e verificar a incidência de hemoglobinopatias nesta população.…”

Section: Introductionunclassified

Programa de triagem Neonatal para hemoglobinopatias em Dourados, MS: uma análise

Souza¹,

Pratesi²,

Fonseca³

2010

Rev. Bras. Hematol. Hemoter.

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Embora estejam bem definidos os benefícios da implantação do programa de triagem neonatal para hemoglobinopatias, não são raros os estudos que apontam falhas nesses programas. Este estudo teve como objetivo avaliar o programa de triagem neonatal para hemoglobinopatias no município de Dourados, estado do Mato Grosso do Sul (MS). Foram entrevistadas, através da aplicação de formulários, 32 famílias cujos filhos foram identificados como portadores de hemoglobinopatias, durante a triagem neonatal, no período de janeiro de 2000 a dezembro de 2005. Adicionalmente, foram verificadas a cobertura do Programa Nacional de Triagem Neonatal (PNTN) e a incidência de hemoglobinopatias no MS, de 2000 a 2005. Dos 242 casos de hemoglobinopatias diagnosticados neste período, a heterozigose para hemoglobina S demonstrou incidência de 1,37%, a heterozigose para hemoglobina C, 0,37% e a heterozigose para hemoglobina D, 0,007%. Não foram diagnosticados casos de anemia falciforme. A cobertura encontrada foi de 81,4%. Foram detectadas falhas, como a não reconvocação para o exame confirmatório, ausência de encaminhamento médico para orientação, falta de investigação familiar e a falha na compreensão do aconselhamento genético. Rev. Bras. Hematol. Hemoter. 2010;32(2):126-130. Palavras-chave: Triagem neonatal; hemoglobinopatias; avaliação de programa.Some failures were detected such as not requiring patients to return for confirmation examinations, the lack of medical counseling and follow through, lack of investigations of family histories, and lack of understanding on the part of the family of the genetic counseling they received. Rev. Bras. Hematol. Hemoter. 2010;32(2):126-130.

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Section: Introductionunclassified

Programa de triagem Neonatal para hemoglobinopatias em Dourados, MS: uma análise

Souza¹,

Pratesi²,

Fonseca³

2010

Rev. Bras. Hematol. Hemoter.

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“…The NNSP includes early treatment and regular outpatient appointments of children after neonatal diagnosis. 13 , 16 It is, however, difficult to achieve this, as several factors lead patients to miss medical consultations. An understanding of what hinders treatment has proved a challenge, as there has been little research on children's follow-up at the referral center after diagnosis at neonatal screening.…”

Section: Introductionmentioning

confidence: 99%

Follow-up of children with hemoglobinopathies diagnosed by the Brazilian Neonatal Screening Program in the State of Pernambuco

Soares

Samico

Araújo

et al. 2014

Revista Brasileira de Hematologia e Hemoterapia

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ObjectiveTo determine the geographical distribution of hemoglobinopathies in the State of Pernambuco, to characterize the children with these diseases and to describe factors associated with their follow-up at the referral center during the period from 2003 to 2010.MethodsA retrospective, cross-sectional, descriptive study was carried out of 275 medical records from a total of 302 children with hemoglobinopathies diagnosed by the National Neonatal Screening Program in the State of Pernambuco in the study period. Microsoft Excel was used for data processing and analysis. The chi-square and the Fisher test were used for statistical analysis. The level of significance was set at 5%. Terra View software was used to analyze the geographical distribution of hemoglobinopathies in the State.ResultsA total of 8.9% of the cases of hemoglobinopathies detected in the period were not followed up at the referral center. For the mothers of children with diseases, this was their second or third or more pregnancy in 64.2% and 30.2%, respectively. Regarding the influence of region of residence and regular medical appointments, the study demonstrated that children from the Zona da Mata, Sertão and Vale do São Francisco regions did not attend 45.2%, 50% and 55.6% of their appointments in the outpatient department, respectively.ConclusionsThis study shows that a significant number of children do not begin consultations in the outpatient clinic and even those who started treatment early and who have the most severe form of the disease, usually miss medical appointments.

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“…Nevertheless, it is always necessary to evaluate the programme, which can result in objective arrangements to correct the any flaws (7) . The FEPE was established in 1961, as a Ecumenical School of Special Education and since 1974, it operates as a Research Centre in the detection of Innate Metabolism Errors.…”

Section: Introductionmentioning

confidence: 99%

Neonatal Screening Program coverage in Maringá (PR), 2001 to 2006

et al. 2008

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Objective: To evaluate the National Newborn Screening Program (NNSP) coverage in the city of Maringá, from 2001 to 2006. Methods: This is a cross-sectional research design, which verified the number of live newborns as well as the number of screened children. The study considered the children born in Maringá as well as those born in other cities but living in Maringá. Results: The NNSP did not reach the expected coverage of 100% in Maringá during the first five years of evaluation. There is a need to consider certain particularities when performing data analysis, such as the period and the place of material collection. Conclusion: Changes should be made so as to improve NNSP coverage. Furthermore, the period when the blood sample was drawn should be reconsidered and decentralized with a view to improve health care delivery. Métodos: Se trata de un estudio observacional transversal retrospectivo. Fueron verificados el número de nacidos vivos y el número de niños rastreados, considerando los nacidos vivos en Maringá y los nacidos vivos residentes en Maringá. Resultados: La cobertura del PNTN en Maringá en los cinco primeros años evaluados, no alcanzó el objetivo deseado por el programa, o sea, el 100% de los nacidos vivos. Algunas consideraciones son necesarias en el análisis de los datos, una de ellas es la época y el local en que el material es recolectado. Conclusión: Se sugieren cambios que puedan ayudar a mejorar la cobertura del Programa de Triaje Neonatal, revisar la época de la recolección de la sangre y descentralizarla para ampliar el horizonte de atención.

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Triagem neonatal: ficção ou realidade?

Cited by 7 publications

References 0 publications

Programa de triagem Neonatal para hemoglobinopatias em Dourados, MS: uma análise

Programa de triagem Neonatal para hemoglobinopatias em Dourados, MS: uma análise

Follow-up of children with hemoglobinopathies diagnosed by the Brazilian Neonatal Screening Program in the State of Pernambuco

Neonatal Screening Program coverage in Maringá (PR), 2001 to 2006

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