Document Detail


Metabolic screening.
MedLine Citation:
PMID:  9646999     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Mandated, universal metabolic screening has been an effective tool for the early identification of infants with metabolic disorders, particularly those amenable to improved outcome with dietary management or medication. Although the availability of diagnosis long before symptoms occur may be useful to preclude expensive diagnostic evaluation when the subtle early symptoms begin and may allow for genetic counseling and testing in affected families, many concerns have been raised regarding the psychologic impact of presymptomatic diagnosis of diseases that are either fatal or for which no effective treatment is available. Before mass screening is initiated, careful pilot studies need to be done to evaluate sensitivity and specificity as well as the impact of early identification on infant outcome.
Authors:
E R Brown
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinics in perinatology     Volume:  25     ISSN:  0095-5108     ISO Abbreviation:  Clin Perinatol     Publication Date:  1998 Jun 
Date Detail:
Created Date:  1998-09-17     Completed Date:  1998-09-17     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7501306     Medline TA:  Clin Perinatol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  371-88     Citation Subset:  IM    
Affiliation:
Boston University School of Medicine, Massachusetts, USA.
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MeSH Terms
Descriptor/Qualifier:
Humans
Infant, Newborn
Metabolism, Inborn Errors / diagnosis*
Neonatal Screening*
Specimen Handling / standards

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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