Related Experiment Video
Updated: Jun 14, 2025
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One
Tamara Dangouloff1, Kristine Hovhannesyan1, Davood Mashhadizadeh1
1Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liege, University of Liege, 4000 Liege, Belgium.
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 conditions or genetic conditions for which a pre-symptomatic or early symptomatic clinical trial is available.
Results:
As of 20 June 2024, the parents of 4425 children had been offered the test; 4005 accepted (90.5%) and 420 refused (9.5%). The main reasons for refusal were the research nature of the project and the misunderstanding of what constitutes genetic conditions.
Conclusions:
These data demonstrate the high acceptability of genomic newborn screening in a properly informed population.
