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Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort
Andrey Marakhonov1, Ekaterina Kalinina2, Sergey Larin2
1Research Centre for Medical Genetics, Moscow, Russia.
Journal of Clinical Laboratory Analysis
|July 12, 2025
Summary
Refining T-cell receptor excision circle (TREC) cutoff values in newborn screening improves severe combined immunodeficiency (SCID) detection. This study established an optimal TREC threshold, enhancing early diagnosis and management of PIDs.
Area of Science:
- Immunology
- Genetics
- Neonatal Medicine
Background:
- Newborn screening (NBS) for severe combined immunodeficiency (SCID) uses T-cell receptor excision circle (TREC) measurements.
- Variations in TREC cutoff values challenge standardization and optimal screening performance globally.
Purpose of the Study:
- To refine TREC cutoff values in a large Russian NBS cohort (202,908 newborns).
- To improve SCID detection sensitivity and accuracy for various primary immunodeficiencies (PIDs).
Main Methods:
- Retrospective analysis of TREC and KREC levels in 202,908 newborns.
- ROC analysis to establish optimal TREC cutoff, validated in PID patient cohorts.
- Comparison of TREC measurements with confirmed PID diagnoses, including 22q11.2 deletion syndrome (22q11.2DS).
Main Results:
- An optimal TREC cutoff of 150 copies/10^5 cells was identified via ROC analysis.
- TREC values between 150-200 copies/10^5 cells indicated high-risk newborns needing monitoring.
- Improved detection of SCID, 22q11.2DS, syndromic PIDs, and transient idiopathic lymphopenia (TIL).
Conclusions:
- The study highlights the need for evaluating TREC cutoff values across different assay systems.
- Broader evaluation can enhance NBS program effectiveness, comparability, and global harmonization.
