Screening of Neonatal UK Dried Blood Spots Using a Duplex TREC Screening Assay

Abstract

The study demonstrated that this duplex assay kit will identify all newborns with SCID as presumptive positives. The data also shows that with suitable TREC cut-off settings the number of presumptive positives from non-SCID newborns will be manageable in the context of a national screening service.

Primer estudio piloto en España sobre el cribado neonatal de las inmunodeficiencias primarias: TRECS y KRECS identifican linfopenias T y B graves

“…El potencial de los KRECS como marcador de trastornos del desarrollo de los linfocitos B en el ámbito del cribado neonatal sistemático ha sido comunicado previamente 13,22 . Al determinar TRECS y KRECS simultáneamente en la misma muestra, se aumenta la capacidad diagnóstica de la prueba.…”

Determination of Reference Values for Trec and Krec in Dry Blood Spots of Newborns From Different Gestation Ages in Sverdlovsk Region

“…Более высокая частота аномальных результа-тов количества TREC у недоношенных новорож-денных отмечается во многих исследованиях [16,20,32,48]. В этом контексте незрелость иммун-ной системы как фактор, имеющий временный эффект, обусловленный гестационным возрас-том, трудно отделим от специфических факторов, связанных с состоянием здоровья недоношенных новорожденных.…”

A Practical Guide to Implementing Population Newborn Screening (NBS) for Severe Combined Immunodeficiency (SCID)

“…UK assessments of the performance of a commercial TREC assay suggests that a cut off of 20 copies is acceptable and has shown that TREC-based screening with a duplex kit (TREC and β-Actin) should identify all newborns with SCID using a smaller DBS punch (1.5 mm in size) (this cut-off is particular for this assay and other different TREC assays may have a different cut-off; therefore, each assay will need testing to determine its own specific cut-off) [8]. This smaller punch ensures there is no leftover genomic DNA after an assay run.…”