Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency.
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.
Comeau
Anne Marie
AM
New England Newborn Screening Program, UMass Medical School, Jamaica Plain, MA 02130, USA. anne.comeau@umassmed.edu
Hale
Jaime E
JE
Pai
Sung-Yun
SY
Bonilla
Francisco A
FA
Notarangelo
Luigi D
LD
Pasternack
Mark S
MS
Meissner
H Cody
HC
Cooper
Ellen Rae
ER
DeMaria
Alfred
A
Sahai
Inderneel
I
Eaton
Roger B
RB
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
D004247:DNA