Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022-2025.

ABSTRACT:

Introduction

Severe combined immunodeficiency (SCID) and other profound T- and B-cell lymphopenias are life-threatening conditions that benefit from early diagnosis and treatment. In October 2022, Ukraine launched a nationwide newborn screening (NBS) program for SCID using the T-cell receptor excision circle/kappa-deleting recombination excision circle/spinal muscular atrophy (TREC/KREC/SMA) assay, despite ongoing war-related challenges. The aim of this study was to analyze the results of the SCID NBS program in Ukraine, evaluate its effectiveness, and outline the current challenges and future directions for its development.

Methods

We analyzed data of screened newborns for SCID and related lymphopenias using the TREC/KREC/SMA assay from October 2022 to April 2025. The resul

SUBMITTER: Boyarchuk O 

PROVIDER: S-EPMC12738327 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature