Source:http://linkedlifedata.com/resource/pubmed/id/20490925
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
Suppl 2
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| pubmed:dateCreated |
2010-10-5
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| pubmed:abstractText |
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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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Oct
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| pubmed:issn |
1573-2665
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| pubmed:author |
pubmed-author:BonillaFrancisco AFA,
pubmed-author:ComeauAnne MarieAM,
pubmed-author:CooperEllen RaeER,
pubmed-author:DeMariaAlfredA,
pubmed-author:EatonRoger BRB,
pubmed-author:HaleJaime EJE,
pubmed-author:MeissnerH CodyHC,
pubmed-author:NotarangeloLuigi DLD,
pubmed-author:PaiSung-YunSY,
pubmed-author:PasternackMark SMS,
pubmed-author:SahaiInderneelI
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| pubmed:issnType |
Electronic
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| pubmed:volume |
33
|
| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
S273-81
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| pubmed:meshHeading |
pubmed-meshheading:20490925-Algorithms,
pubmed-meshheading:20490925-Blood Specimen Collection,
pubmed-meshheading:20490925-DNA,
pubmed-meshheading:20490925-False Positive Reactions,
pubmed-meshheading:20490925-Genes, T-Cell Receptor,
pubmed-meshheading:20490925-Humans,
pubmed-meshheading:20490925-Infant, Newborn,
pubmed-meshheading:20490925-Massachusetts,
pubmed-meshheading:20490925-Neonatal Screening,
pubmed-meshheading:20490925-Pilot Projects,
pubmed-meshheading:20490925-Practice Guidelines as Topic,
pubmed-meshheading:20490925-Predictive Value of Tests,
pubmed-meshheading:20490925-Program Development,
pubmed-meshheading:20490925-Program Evaluation,
pubmed-meshheading:20490925-Quality Indicators, Health Care,
pubmed-meshheading:20490925-Reproducibility of Results,
pubmed-meshheading:20490925-Severe Combined Immunodeficiency
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| pubmed:year |
2010
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| pubmed:articleTitle |
Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency.
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| pubmed:affiliation |
New England Newborn Screening Program, UMass Medical School, Jamaica Plain, MA 02130, USA. anne.comeau@umassmed.edu
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| pubmed:publicationType |
Journal Article
|