We Need Expanded Newborn Screening

Howell, R. Rodney

doi:10.1542/peds.2005-3196

Cited by 28 publications

(21 citation statements)

References 17 publications

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“…With the use of tandem mass spectroscopy, states have substantially increased the number of conditions included in mandatory NBS programs. 1 This expansion has mostly followed recommendations from an expert panel commissioned by the Maternal and Child Health Bureau, which proposed mandated screening for a core panel of 29 conditions and suggested that 25 additional conditions be reported to families, although accepted treatments are not yet available. 2 The President's Council on Bioethics 3 criticized the recommendations, arguing that mandated NBS should be restricted to conditions that adhere closely to Wilson and Jungner's traditional principles for screening, 4 especially the availability of treatment that is accepted as effective and accessible to patients.…”

Section: The Lure Of Treatment: Expanded Newborn Screening and The Cumentioning

confidence: 99%

The Lure of Treatment: Expanded Newborn Screening and the Curious Case of Histidinemia

et al. 2010

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Section: The Lure Of Treatment: Expanded Newborn Screening and The Cumentioning

confidence: 99%

The Lure of Treatment: Expanded Newborn Screening and the Curious Case of Histidinemia

et al. 2010

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“…Some authors defend the position that the greatest possible number of diseases should be diagnosed, considering that, for pediatricians, the essence of the specialty is preventative medicine and that, even for diseases for which there is no treatment, it is important that families know the diagnosis and are given appropriate genetic counseling. 4,30,31 Other authors consider that there is not sufficient information about the efficacy of expanded screening and that there is a lack of properly conducted research into treatment for these diseases. They question the strategy of offering results about a large number of diseases for which there is little or no evidence of benefit for those affected.…”

Section: Screening With Tandem Mass Spectrometrymentioning

confidence: 99%

“…There is no systematic view of what value screening for these conditions might be for newborns. 26,30 Another important factor is that, in a large proportion of pregnancies, diagnostic investigation of the mother is carried as part of prenatal care.…”

Section: S85mentioning

confidence: 99%

Triagem neonatal: o que os pediatras deveriam saber

Leão¹,

Aguiar²

2008

J. Pediatr. (Rio J.)

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Objective: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs. Summary of the findings:Published data demonstrate a great diversity in the number of diseases included in the neonatal screening programs of different countries. In Brazil, the National Neonatal Screening Program was set up in 2001, to screen for phenylketonuria, congenital hypothyroidism, sickle-cell anemia and cystic fibrosis. Screening for a wider range of conditions using mass spectrometry is currently the subject of disagreement and discussion of financial and ethical issues. Conclusions:Neonatal screening is one of the most important advances for the prevention of pediatric diseases.Nevertheless, implementation is complex, multidisciplinary and dependent on public health policies and, to date, there is no consensus on which diseases should be included. A large number of scientific and ethical questions need to be discussed in order to better define the screening panels to be implemented. Pediatricians have important roles to play in all stages of neonatal screening programs.J Pediatr (Rio J). 2008;84(4 Suppl):S80-90:

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“…Não existe uma visão sistemá-tica sobre qual seria o valor dessas triagens no recém-nascido 26,30 . Outro aspecto importante é que, em grande parte das gestações, a investigação diagnóstica na mãe é realizada durante o pré-natal.…”

Section: Outros Testes De Triagem No Brasilunclassified

Newborn screening: what pediatricians should know

Leão¹,

Aguiar²

2008

J Pediatr (Rio J)

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ResumoObjetivo: Revisão da literatura para avaliar a situação da triagem neonatal no mundo e no Brasil. Definir o papel do pediatra nos programas de triagem neonatal. Fontes dos dados: Conclusões:A triagem neonatal representa um dos principais avanços para a prevenção de doenças na pediatria. Entretanto, sua implantação é complexa, multidisciplinar, depende de políticas públicas de saúde e não há, até o momento, consenso sobre quais doenças devam ser incluídas. Diversas questões científicas e éticas precisam ser discutidas para melhor definição dos painéis a serem seguidos. O pediatra tem papel importante em todas as etapas dos programas de triagem neonatal.J Pediatr (Rio J). 2008;84(4 Supl):S80-90: Triagem neonatal, triagem genética, pediatria, genética médica, ética, ética médica. AbstractObjective: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs.

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We Need Expanded Newborn Screening

Cited by 28 publications

References 17 publications

The Lure of Treatment: Expanded Newborn Screening and the Curious Case of Histidinemia

The Lure of Treatment: Expanded Newborn Screening and the Curious Case of Histidinemia

Triagem neonatal: o que os pediatras deveriam saber

Newborn screening: what pediatricians should know

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