Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency

UMMS Affiliation

Department of Pediatrics; New England Newborn Screening Program

Publication Date


Document Type



Algorithms; 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


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.

DOI of Published Version



J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S273-81. Epub 2010 May 20. Link to article on publisher's site

Journal/Book/Conference Title

Journal of inherited metabolic disease

Related Resources

Link to Article in PubMed

PubMed ID