A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

ABSTRACT:

Importance

Next-generation sequencing (NGS) has the potential to revolutionize newborn screening (NBS) by enabling the early identification of actionable genetic conditions not detectable by traditional methods. However, its integration into routine screening programs remains limited due to challenges related to feasibility, interpretation, and clinical impact.

Objective

To investigate the acceptability and feasibility as well as the clinical implications of an NGS-based NBS program using DNA extracted from dried blood spots (DBSs).

Design, setting, and participants

This prospective, nonpharmacological, interventional, single-center cohort study was proposed to parents whose newborns were delivered between October 1, 2023, and July 31, 2024, in a tertiary-level hospit

SUBMITTER: Carli D 

PROVIDER: S-EPMC12534850 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature