Evidence map›Paper›PMID 41133703›Full record

ArticleInternational journal of neonatal screening2025

Analytical Validation of a Genomic Newborn Screening Workflow.

Kristine Hovhannesyan, Laura Helou, Benoit Charloteaux, Valerie Jacquemin, Flavia Piazzon, Myriam Mni, Charlotte Flohimont, Corinne Fasquelle, Davood Mashhadizadeh, Tamara Dangouloff and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of neonatal screening, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. 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

14 authors.

Kristine HovhannesyanBiochemical Genetics Laboratory, CHU of Liege, University of Liege, Avenue de l'Hôpital 1, 4000 Liege, Belgium.
Laura HelouDepartment of Human Genetics, CHU of Liege, University of Liege, Avenue de l'Hôpital 1, 4000 Liege, Belgium.ORCID 0000-0003-0608-5861
Benoit CharloteauxDepartment of Human Genetics, CHU of Liege, University of Liege, Avenue de l'Hôpital 1, 4000 Liege, Belgium.ORCID 0000-0003-4282-9688
Valerie JacqueminBiochemical Genetics Laboratory, CHU of Liege, University of Liege, Avenue de l'Hôpital 1, 4000 Liege, Belgium.
Flavia PiazzonDivision of Child Neurology, Department of Pediatrics, Reference Center for Neuromuscular Diseases, CHU of Liege, University of Liege, Bd du Douzième de Ligne 1, 4000 Liege, Belgium.
Myriam MniBiochemical Genetics Laboratory, CHU of Liege, University of Liege, Avenue de l'Hôpital 1, 4000 Liege, Belgium.
Charlotte FlohimontBiochemical Genetics Laboratory, CHU of Liege, University of Liege, Avenue de l'Hôpital 1, 4000 Liege, Belgium.
Corinne FasquelleDepartment of Human Genetics, CHU of Liege, University of Liege, Avenue de l'Hôpital 1, 4000 Liege, Belgium.
Davood MashhadizadehDivision of Child Neurology, Department of Pediatrics, Reference Center for Neuromuscular Diseases, CHU of Liege, University of Liege, Bd du Douzième de Ligne 1, 4000 Liege, Belgium.ORCID 0009-0008-4621-0173
Tamara DangouloffDivision of Child Neurology, Department of Pediatrics, Reference Center for Neuromuscular Diseases, CHU of Liege, University of Liege, Bd du Douzième de Ligne 1, 4000 Liege, Belgium.ORCID 0000-0002-5435-4774
Vincent BoursDepartment of Human Genetics, CHU of Liege, University of Liege, Avenue de l'Hôpital 1, 4000 Liege, Belgium.
Laurent ServaisMDUK Oxford Neuromuscular Centre, NIHR Oxford Biomedical Research Centre, University of Oxford, John Radcliffe, Headington, Oxford OX3 9DU, UK.ORCID 0000-0001-9270-4061
Leonor PalmeiraDepartment of Human Genetics, CHU of Liege, University of Liege, Avenue de l'Hôpital 1, 4000 Liege, Belgium.ORCID 0009-0004-8750-6692
François BoemerBiochemical Genetics Laboratory, CHU of Liege, University of Liege, Avenue de l'Hôpital 1, 4000 Liege, Belgium.ORCID 0000-0003-4470-9524

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Newborn screening (NBS) has evolved significantly since its inception, yet many treatable rare diseases remain unscreened due to technical limitations. The BabyDetect study used gene panel sequencing to expand NBS to treatable conditions not covered by conventional biochemical screening. We present here the analytical validation of this workflow, assessing sensitivity, precision, and reproducibility using dried blood spots from newborns. We implemented strict quality control thresholds for sequencing, coverage, and contamination, ensuring high reliability. Longitudinal monitoring confirmed consistent performance across more than 5900 samples. Automation of DNA extraction improved scalability, and a panel redesign enhanced the coverage and selection of targeted regions. By focusing on known pathogenic/likely pathogenic variants, we minimized false positives and maintained clinical actionability. Our findings demonstrate that gene panel sequencing-based NBS is feasible, accurate, and scalable, addressing critical gaps in current screening programs.

Indexed as

analytical validationBabyDetectdried blood spotgenomicnewborn screeningnext generation sequencing

Identifiers

PMID41133703
PMCPMC12551001

What OpenQuestion holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

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.