Cause of Death in Neonates with Inconclusive or Abnormal T-cell Receptor Excision Circle Assays on Newborn Screening

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Abstract

Introduction

During the first 2 years of newborn screening (NBS) for severe combined immunodeficiency (SCID), 39 infants with an abnormal or inconclusive newborn screening test for SCID died prior to assessment of immune function. We investigated if SCID or primary T-cell lymphopenia likely contributed to the death of these neonates.

Methods

This study is a detailed retrospective chart review. Results Medical records were available in all 39 infants. Three neonates were full-term infants whose deaths were due to congenital anomalies. Thirty-three infants were born <33 weeks estimated gestational age, and the majority of these infants died from complications of prematurity. Six infants died from sepsis: two due to maternal chorioamnionitis, two due to necrotizing enterocolitis, one due to early onset group B strep sepsis, and one from a likely nosocomial infection.

Conclusions

There was no evidence that SCID contributed to the cause of death in neonates with an abnormal of inconclusive NBS test for SCID.

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