title: Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency.
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.
authors.affiliation: New England Newborn Screening Program, UMass Medical School, Jamaica Plain, MA 02130, USA. anne.comeau@umassmed.edu
authors.forename: Anne Marie
authors.initials: AM
authors.lastname: Comeau
authors.forename: Jaime E
authors.initials: JE
authors.lastname: Hale
authors.forename: Sung-Yun
authors.initials: SY
authors.lastname: Pai
authors.forename: Francisco A
authors.initials: FA
authors.lastname: Bonilla
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: Mark S
authors.initials: MS
authors.lastname: Pasternack
authors.forename: H Cody
authors.initials: HC
authors.lastname: Meissner
authors.forename: Ellen Rae
authors.initials: ER
authors.lastname: Cooper
authors.forename: Alfred
authors.initials: A
authors.lastname: DeMaria
authors.forename: Inderneel
authors.initials: I
authors.lastname: Sahai
authors.forename: Roger B
authors.initials: RB
authors.lastname: Eaton
mesh_terms: D000465:Algorithms; D001800:Blood Specimen Collection; D004247:DNA / Q000097:blood; D005189:False Positive Reactions; D019672:Genes, T-Cell Receptor; D006801:Humans; D007231:Infant, Newborn; D008404:Massachusetts; D015997:Neonatal Screening / Q000379:methods; D010865:Pilot Projects; D017410:Practice Guidelines as Topic; D011237:Predictive Value of Tests; D016730:Program Development; D015397:Program Evaluation; D019984:Quality Indicators, Health Care; D015203:Reproducibility of Results; D016511:Severe Combined Immunodeficiency / Q000097:blood / Q000175:diagnosis* / Q000276:immunology
chemical_list: D004247:DNA