Implementing routine testing for severe combined immunodeficiency within Wisconsin's newborn screening program.
Severe combined immunodeficiency (SCID) is the result of genetic defects that impair normal T-cell development. SCID babies typically appear normal at birth, but acquire multiple life-threatening infections within a few months. Early diagnosis and treatment with a bone-marrow transplant markedly improves long-term outcomes. On January 1, 2008, the newborn screening (NBS) program in Wisconsin became the first in the world to routinely test all newborns for SCID. A realtime quantitative polymerase chain reaction assay measures T-cell receptor excision circles (TRECs), which are formed during the maturation of normal T-cells. A lack or very low number of TRECs is consistent with T-cell lymphopenia. The development and validation of the TREC assay and the results of the first year of screening have been published. This article describes the process used to add SCID to the NBS panel, the establishment of follow-up capacity, and the integration of SCID screening into routine NBS workflows. The development of this expanded NBS program is described so that other states might benefit from the processes used in Wisconsin.
Baker
Mei Wang
MW
Wisconsin State Laboratory of Hygiene, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USA.
Laessig
Ronald H
RH
Katcher
Murray L
ML
Routes
John M
JM
Grossman
William J
WJ
Verbsky
James
J
Kurtycz
Daniel F
DF
Brokopp
Charles D
CD
D004247:DNA / Q000097:blood / Q000235:genetics; D019672:Genes, T-Cell Receptor; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D016133:Polymerase Chain Reaction; D011948:Receptors, Antigen, T-Cell / Q000235:genetics* / Q000276:immunology; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000276:immunology; D014922:Wisconsin
D011948:Receptors, Antigen, T-Cell; D004247:DNA