Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium.

ABSTRACT:

Purpose

Genomic newborn screening programs are emerging worldwide. With the support of the local pediatric team of Liege, Belgium, we developed a panel of 405 genes that are associated with 165 early-onset, treatable diseases with the goal of creating a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions.

Methods

A process was developed that informed the future parents about the project and collected their consent during a face-to-face discussion with a trained investigator. The first baby was screened on 1 September 2022. The main objective of the study was to test the feasibility and the acceptability of targeted sequencing at birth as a first-tier newborn screening approach to detect treatable genetic con

SUBMITTER: Dangouloff T 

PROVIDER: S-EPMC11353025 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature