An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program.
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.
['Blom|Maartje|M|', 'Pico-Knijnenburg|Ingrid|I|', 'Sijne-van Veen|Marja|M|', 'Boelen|Anita|A|', 'Bredius|Robbert G M|RGM|', 'van der Burg|Mirjam|M|', 'Schielen|Peter C J I|PCJI|']
D001681:Biological Assay D004270:DNA, Circular D006801:Humans D007231:Infant, Newborn D007234:Infant, Premature D015997:Neonatal Screening D016133:Polymerase Chain Reaction D011948:Receptors, Antigen, T-Cell D016511:Severe Combined Immunodeficiency
TREC Newborn screening Severe combined immunodeficiency T-cell receptor excisions circles Heel prick cards κ-deleting recombination excision circles