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An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program.
Blom, Maartje Pico-Knijnenburg, Ingrid Sijne-van Veen, Marja Boelen, Anita Bredius, Robbert G M van der Burg, Mirjam Schielen, Peter C J I
Blom, Maartje
Pico-Knijnenburg, Ingrid
Sijne-van Veen, Marja
Boelen, Anita
Bredius, Robbert G M
van der Burg, Mirjam
Schielen, Peter C J I
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Series / Report no.
Open Access
Type
Article
Language
en
Date of publication
2017-07
Year of publication
Research Projects
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Journal Issue
Title
An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program.
Translated Title
Published in
Clin Immunol 2017 ; 180:106-10
Abstract
Newborn screening of severe combined immunodeficiency through the detection of T-cell receptor excision circles will provide the opportunity of treating before the occurrence of life-threatening infections. With the EnLite Neonatal TREC assay (PerkinElmer) and end-point PCR, 39 samples (3.0%) of 1295 heel prick cards of the Dutch newborn screening program required a retest after initial analysis. After retest, 21 samples (1.62%) gave TREC levels below cut-off. A significant reduction in TREC levels was observed in heel prick cards stored for three months (n=33) and one year (n=33). Preterm newborns (n=155) showed significantly lower TREC levels and a higher retest-rate than full-term newborns. Peripheral blood spots of 22 confirmed SCID patients and 17 primary immunodeficiency patients showed undetectable or low TREC-levels. These findings suggest that the EnLite Neonatal TREC assay is a suitable method for SCID-screening in the Netherlands, thereby providing guidance in the decisions concerning implementation into the Dutch program.