Evidence map›Paper›PMID 39201861›Full record

ArticleChildren (Basel, Switzerland)2024

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

Tamara Dangouloff, Kristine Hovhannesyan, Davood Mashhadizadeh, Frederic Minner, Myriam Mni, Laura Helou, Flavia Piazzon, Leonor Palmeira, François Boemer, Laurent Servais

Registry-linked trialAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Children (Basel, Switzerland), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05687474 (Universal Genomic Newborn Screening in the Wallonia-Brussels Federation), which is not on this map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT05687474 completednot on this map

Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect

TypeobservationalSponsorCentre Hospitalier Universitaire de LiegeRan2022 to 2025Enrolled6,824ConditionsCongenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
3 · Its place in the literature

Who cites it

8 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Analytical Validation of a Genomic Newborn Screening Workflow.International journal of neonatal screening · 2025
    Article
  5. Review
  6. Article
  7. Review
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Tamara DangouloffNeuromuscular Reference Center, Department of Pediatrics, University Hospital Liege, University of Liege, 4000 Liege, Belgium.ORCID 0000-0002-5435-4774
Kristine HovhannesyanNeuromuscular Reference Center, Department of Pediatrics, University Hospital Liege, University of Liege, 4000 Liege, Belgium.
Davood MashhadizadehNeuromuscular Reference Center, Department of Pediatrics, University Hospital Liege, University of Liege, 4000 Liege, Belgium.
Frederic MinnerBiochemical Genetics Lab, Department of Humans Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
Myriam MniBiochemical Genetics Lab, Department of Humans Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
Laura HelouBiochemical Genetics Lab, Department of Humans Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.ORCID 0000-0003-0608-5861
Flavia PiazzonNeuromuscular Reference Center, Department of Pediatrics, University Hospital Liege, University of Liege, 4000 Liege, Belgium.
Leonor PalmeiraBiochemical Genetics Lab, Department of Humans Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.ORCID 0009-0004-8750-6692
François BoemerBiochemical Genetics Lab, Department of Humans Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.ORCID 0000-0003-4470-9524
Laurent ServaisNeuromuscular Reference Center, Department of Pediatrics, University Hospital Liege, University of Liege, 4000 Liege, Belgium.ORCID 0000-0001-9270-4061

Funding

Leon Fredericq Foundation No numberOrchard Therapeutics No numberSanofi No numberTakeda (Belgium) No NumberZentech No number
6 · The paper itself

Abstract

purposeGenomic 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.

methodsA 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.

resultsAs 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.

conclusionsThese data demonstrate the high acceptability of genomic newborn screening in a properly informed population.

Indexed as

genomicnewborn screeningtargeted next-generation sequencingtreatable disease

Identifiers

PMID39201861
PMCPMC11353025

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.