Premium
Guidelines for implementation of population‐based newborn screening for severe combined immunodeficiency
Author(s) -
Comeau Anne Marie,
Hale Jaime E.,
Pai SungYun,
Bonilla Francisco A.,
Notarangelo Luigi D.,
Pasternack Mark S.,
Meissner H. Cody,
Cooper Ellen Rae,
DeMaria Alfred,
Sahai Inderneel,
Eaton Roger B.
Publication year - 2010
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-010-9103-9
Subject(s) - newborn screening , medicine , human genetics , pediatrics , population , human immunodeficiency virus (hiv) , severe combined immunodeficiency , intensive care medicine , immunology , genetics , biology , environmental health , gene
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.