Newborn screening for metabolic disorders

Marsden, Deborah; Larson, Cecilia A.; Levy, Harvey L.

doi:10.1016/j.jpeds.2005.12.021

Cited by 52 publications

(37 citation statements)

References 55 publications

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“…The territories' perceived lack of experience with NBS deserves careful attention, as this barrier has been documented to be a factor contributing to missed cases of PKU and CHT in other regions. 11 Implementing solutions to training needs and other documented needs and barriers in this study involve the provision of more funding. Given the historical, political, and infrastructural differences among the Islands (for example, PRs program being centralized, whereas USVI sends out samples), individually designed strategic plans are necessary.…”

Section: Discussionmentioning

confidence: 99%

Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment

Morales

Wierenga

Cuthbert

et al. 2009

Genetics in Medicine

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Purpose:The implementation of the expanded newborn screening panel of 29 disorders recommended by the American College of Medical Genetics in Puerto Rico and United States Virgin Islands is still in development or in early stages. Efforts in the territories are complicated by educational and resource barriers that generate a wide gap between the islands and the US mainland. Methods: To meet immediate educational needs, we conducted in-services for local newborn screening professionals. The efficacy of the educational intervention was measured by pre and posttest scores and a seminar evaluation. An assessment was obtained to document local newborn screening needs and barriers, with focus on human resources, intervention, language, social issues, education, and communication. Results: Statistical significance was found (P value Յ0.05) between pre and posttest scores of the educational intervention. Needs and barriers associated with expanded newborn screening were also documented.

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Section: Discussionmentioning

confidence: 99%

Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment

Morales

Wierenga

Cuthbert

et al. 2009

Genetics in Medicine

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“…Neonatal screening is a system of five stages that is habitually organized and carried out by the public health system, which has the resources and authority necessary to carry out universal screening, and in which pediatricians play an important role. 2,13,14,17,[19][20][21] The first step is to carry out the screening tests themselves. The objective is to achieve universal screening, i.e., all newborn infants should be screened.…”

Section: The Concept Of Neonatal Screeningmentioning

confidence: 99%

“…The fragments are then analyzed and identified according to their mass by the second spectrometer. 4,8,19,24 The entire analysis process takes around 2 minutes and, at the end, more than 40 metabolic diseases can be identified from a single sample. 8 These include aminoacidopathies, fatty acid oxidation disorders and organic acidemias.…”

Section: Screening With Tandem Mass Spectrometrymentioning

confidence: 99%

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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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“…In all cases, the primary responsibility for newborn screening resides in the public health system, which faces many challenges as newborn screening capabilities evolve. 1 Until the past few years, there was little controversy regarding state-run newborn screening programs. All fifty states screened for PKU and hypothyroidism; some states included galactosemia (a disorder of lactose metabolism that can cause liver failure and death if untreated) and hemoglobinopathies (such as sickle cell anemia), and a few screened for other rare disorders.…”

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confidence: 99%

Newborn Screening: Current Status

Arn

2007

Health Affairs

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Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. Newborn screening programs are state-run, and decisions are left to the individual states regarding the conditions to be screened for, the mechanism for confirmatory testing, followup care, and financing of the programs. Laboratory advances in tandem mass spectrometry make it possible to screen newborns for many rare inborn errors of metabolism. This raises many policy issues including screening's cost-effectiveness, ethics, quality, and oversight. [Health Affairs 26, no. 2 (2007):

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Newborn screening for metabolic disorders

Cited by 52 publications

References 55 publications

Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment

Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment

Triagem neonatal: o que os pediatras deveriam saber

Newborn Screening: Current Status

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