Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency
Comeau, Anne Marie ; Hale, Jaime E ; Pai, Sung-Yun ; Bonilla, Francisco A. ; Notarangelo, Luigi D. ; Pasternack, Mark S. ; Meissner, H. Cody ; Cooper, Ellen Rae ; DeMaria, Alfred ; Sahai, Inderneel ... show 1 more
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Student Authors
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UMass Chan Affiliations
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Keywords
Blood Specimen Collection
DNA
False Positive Reactions
Genes, T-Cell Receptor
Humans
Infant, Newborn
Massachusetts
*Neonatal Screening
Pilot Projects
Practice Guidelines as Topic
Predictive Value of Tests
Program Development
Program Evaluation
Quality Indicators, Health Care
Reproducibility of Results
Severe Combined Immunodeficiency
Genetics and Genomics
Medical Genetics
Pediatrics
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Abstract
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.
Source
J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S273-81. Epub 2010 May 20. Link to article on publisher's site