An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program

作者：Blom Maartje; Pico Knijnenburg Ingrid; Sijne van Veen Marja; Boelen Anita; Bredius Robbert G M; van der Burg Mirjam; Schielen Peter C J I^*

来源：Clinical Immunology, 2017, 180: 106-110.

DOI：10.1016/j.clim.2017.05.007

• Severe combined immunodeficiency
• Newbom screening
• TREC
• T-cell receptor excisions cirdes
• kappa-deleting recombination excision circles
• Heel prick cards

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.

• 出版日期2017-7