| Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency. | |
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MedLine Citation:
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PMID: 20490925 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Severe combined immunodeficiency (SCID) is a Primary Immune Deficiency that is under consideration for population-based newborn screening (NBS) by many NBS programs, and has recently been recommended for inclusion in the US uniform panel of newborn screening conditions. A marker of SCID, the T cell receptor excision circle (TREC), is detectable in the newborn dried blood spot using a unique molecular assay as a primary screen. The New England Newborn Screening Program developed and validated a multiplex TREC assay in which both the TREC analyte and an internal control are acquired from a single punch and run in the same reaction. Massachusetts then implemented a statewide pilot SCID NBS program. The authors describe the rationale for a pilot SCID NBS program, a comprehensive strategy for successful implementation, the screening test algorithm, the screening follow-up algorithm and preliminary experience based on statewide screening in the first year. The Massachusetts experience demonstrates that SCID NBS is a program that can be implemented on a population basis with reasonable rates of false positives. |
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Authors:
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Anne Marie Comeau; Jaime E Hale; Sung-Yun Pai; Francisco A Bonilla; Luigi D Notarangelo; Mark S Pasternack; H Cody Meissner; Ellen Rae Cooper; Alfred DeMaria; Inderneel Sahai; Roger B Eaton |
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Publication Detail:
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Type: Journal Article Date: 2010-05-20 |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 33 ISSN: 1573-2665 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-10-05 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: Netherlands |
Other Details:
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Languages: eng Pagination: S273-81 Citation Subset: IM |
Affiliation:
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New England Newborn Screening Program, UMass Medical School, Jamaica Plain, MA 02130, USA. anne.comeau@umassmed.edu |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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