The clinical aspects of newborn screening: importance of newborn screening follow-up.

The clinical aspects of newborn screening: importance of newborn screening follow-up. Research Abstract Details 

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The clinical aspects of newborn screening: importance of newborn screening follow-up. Abstract Text:

Philip M James,Harvey L Levy,

The aim of newborn screening is to identify presymptomatic healthy infants that will develop significant metabolic or endocrine derangements if left undiagnosed and untreated. The goal of ultimately reducing or eliminating irreversible sequelae is reached by maximizing test sensitivity of the primary newborn screening that measures specific analytes by a number of methodologies. Differentiation of true from false negatives is accomplished by the test specificity. This review discusses disorders for which, in general, there are available therapies and that are detected by routine and expanded newborn screening. Recommendations are presented for evaluation by a primary care physician, with confirmation by a metabolic or endocrinology specialist. Disorders are organized in tabular format by class of pathway or analyte, with attention to typical clinical presentations, confirmatory biochemical and molecular tests, and therapies. There are numerous challenges in clinical follow-up, including diagnosis and appropriate understanding of the consequences of the disorders. The data required to meet these challenges can be acquired only by large scale longitudinal comprehensive studies of outcome in children identified by newborn screening. Only with such data can newborn screening fully serve families.

The clinical aspects of newborn screening: importance of newborn screening follow-up. Publishing Authors By Initials

PM James,HL Levy,

For similar investigative techniques: epidemiologic methods: statistics as topic: probability: risk: risk factors research abstracts see: investigative techniques: epidemiologic methods: statistics as topic: probability: risk: risk factors research

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The clinical aspects of newborn screening: importance of newborn screening follow-up. Journal Published:

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: Mental retardation and developmental disabilities

VOLUME: 12

Page Numbers: 246-54

Journal Abbreviation:

ISSN: 1080-4013

DAY: 3

MONTH: 12

YEAR: 2006

The clinical aspects of newborn screening: importance of newborn screening follow-up. Information

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LANGUAGE: eng

NlmUniqueID: 9517974

The clinical aspects of newborn screening: importance of newborn screening follow-up. Keywords Mesh Terms:

KEYWORDS: Risk Factors

MESH TERMS: diagnosis

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Grant and Affiliation Information for The clinical aspects of newborn screening: importance of newborn screening follow-up.

AFFILIATION: Division of Genetics, Children's Hospital Boston, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA.

Country: United States

AGENCY: United States PHS

GRANT: U22MC03959

ACRONYM: HG

MEDLINETA: Ment Retard Dev Disabil Res Re

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