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.

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Keywords Heel prick cards, Newborn screening, Severe combined immunodeficiency, T-cell receptor excisions circles, TREC, κ-deleting recombination excision circles
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Journal Clinical Immunology
Blom, M. (Maartje), Pico-Knijnenburg, I, Sijne-van Veen, M. (Marja), Boelen, A, Bredius, R.G.M, van der Burg, M, & Schielen, P.C.J.I. (2017). An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program. Clinical Immunology, 180, 106–110. doi:10.1016/j.clim.2017.05.007