Increased mortality in infants with abnormal T-cell receptor excision circles

Area of Science:

• Neonatal screening
• Immunology
• Public health

Background:

• T-Cell Receptor Excision Circles based newborn screening (TREC-NBS) detects T-cell lymphopenia in infants.
• The significance of abnormal TREC-NBS in infants without primary immunodeficiency disorders (PIDD) is not well understood.
• This study investigates the association between abnormal TREC-NBS and infant mortality.

Purpose of the Study:

• To evaluate the association of abnormal TREC-NBS with mortality in newborns.
• To identify risk factors associated with abnormal TREC-NBS.
• To determine the clinical implications of abnormal TREC-NBS in infants without PIDD.

Main Methods:

• Reviewed 365,207 TREC-NBS results from October 2011 to December 2014.
• Identified 467 newborns with abnormal screens not meeting PIDD criteria.
• Matched cases to controls (1:3) and obtained mortality data from state health records.

Main Results:

• Infants with abnormal TREC-NBS showed higher mortality rates, even after ruling out PIDD.
• Transient abnormal TREC-NBS was not linked to increased mortality.
• Unresolved or late abnormal TREC-NBS was associated with significantly higher mortality.

Conclusions:

• Abnormal TREC-NBS may indicate a higher risk of morbidity and mortality in infants.
• Infants with late abnormal TREC-NBS often present with severe prematurity, low birth weight, and congenital anomalies.
• Close follow-up is recommended for infants with abnormal TREC-NBS, particularly those discharged before repeat screening.