Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.

ABSTRACT:

Background

Public health newborn screening (NBS) programs continuously evolve, taking advantage of international shared learning. NBS for severe combined immunodeficiency (SCID) has recently been introduced in many countries. However, comparison of screening outcomes has been hampered by use of disparate terminology and imprecise or variable case definitions for non-SCID conditions with T-cell lymphopenia.

Objectives

This study sought to determine whether standardized screening terminology could overcome a Babylonian confusion and whether improved case definitions would promote international exchange of knowledge.

Methods

A systematic literature review highlighted the diverse terminology in SCID NBS programs internationally. While, as expected, individual screening st

SUBMITTER: Blom M 

PROVIDER: S-EPMC9278646 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature