Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort.

ABSTRACT:

Background

Newborn screening (NBS) for severe combined immunodeficiency (SCID) relies on the measurement of T-cell receptor excision circle (TREC) for early diagnosis and intervention. However, considerable variation in TREC cutoff values across countries and testing platforms poses challenges for standardization and optimal screening performance. This study aimed to refine the TREC cutoff values in a large Russian pilot NBS cohort comprising 202,908 newborns, with a primary focus on improving SCID detection sensitivity.

Methods

A retrospective analysis of 202,908 newborns from a pilot NBS project assessed TREC and KREC levels. Confirmed PID diagnoses were compared with TREC measurements in a group of 66 false-positive cases. The optimal TREC cutoff was established using ROC

SUBMITTER: Marakhonov A 

PROVIDER: S-EPMC12378376 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature