%0 Journal Article
%T Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency.
%A Comeau AM
%A Hale JE
%A Pai SY
%A Bonilla FA
%A Notarangelo LD
%A Pasternack MS
%A Meissner HC
%A Cooper ER
%A DeMaria A
%A Sahai I
%A Eaton RB
%J J Inherit Metab Dis
%V 33
%N 0
%D Oct 2010
%M 20490925
%F 4.75
%R 10.1007/s10545-010-9103-9
%X 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.