Evidence map›Paper›PMID 40993898›Full record

ReviewInternational ophthalmology clinics2025

Genetic Newborn Screening for Retinoblastoma: A Belgian Initiative Baby Detect.

Paulina Bartoszek, François Boemer, Kristine Hovhannesyan, Valérie Jacquemin, Flavia Piazzon, Davood Mashhadizadeh, Vincent Bours, Laura Helou, Vincent Rigo, Nadège Hennuy and 2 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in International ophthalmology clinics, 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. Review
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

12 authors.

Paulina BartoszekDepartment of Ophthalmology, University Hospitals Saint-Luc, Institut Roi Albert II, UCLouvain, Brussels.ORCID 0000-0001-8704-9859
François BoemerBiochemical Genetics Lab, Department of Human Genetics, CHU Liege, University of Liege.
Kristine HovhannesyanHuman Genetics Laboratory, GIGA-R Institute, University of Liege.
Valérie JacqueminHuman Genetics Laboratory, GIGA-R Institute, University of Liege.
Flavia PiazzonHuman Genetics Laboratory, GIGA-R Institute, University of Liege.
Davood MashhadizadehIndependent Researcher.
Vincent BoursDepartment of Human Genetics, CHU Liege, University of Liege.
Laura HelouBioinformatics Unit, Department of Human Genetics, CHU Liege, University of Liege.
Vincent RigoDepartment of Neonatology, CHU Liège, CHR de la Citadelle, University of Liège.
Nadège HennuyDepartment of Neonatology, CHU Liège, CHR de la Citadelle, University of Liège.
Tamara DangouloffDepartment of Pediatrics, Division of Child Neurology, Reference Center for Neuromuscular Diseases, CHU Liege, University of Liege, Liege, Belgium.
Laurent ServaisDepartment of Pediatrics, Division of Child Neurology, Reference Center for Neuromuscular Diseases, CHU Liege, University of Liege, Liege, Belgium.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Baby Detect Project, started in September 2022, aimed to create a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions. The elaborated gene panel covers 405 genes, associated with 165 genetic conditions, and includes RB1, linked to retinoblastoma, the only oncological disease tested for. Germline RB1 mutations concern around 50% of all retinoblastoma cases and 100% of the most severe, bilateral cases. Ninety percent of them occur de novo, which delays the diagnosis by about a year with subsequent loss of vision and sometimes the eye itself. Detecting children with germline RB1 mutation at birth would greatly improve functional and anatomic outcomes, limiting invasive treatments and general anesthesias through early childhood. We discuss herein the novel approach of population screening, the rationale for newborn testing for RB1 mutations, the incidence of expected cases, the reliability of the test and its costs. The next step is to move to a nation-scale population; this initiative marks a landmark in retinoblastoma patients' care.

Indexed as

Genetic TestingNeonatal ScreeningRetinal NeoplasmsRetinoblastomaRetinoblastoma Binding ProteinsBelgiumGerm-Line MutationHumansInfant, NewbornUbiquitin-Protein LigasesRB1 protein, humanRetinoblastoma Binding ProteinsUbiquitin-Protein Ligasesgenomic newborn screeningpopulation healthprecision medicineRetinoblastoma

Identifiers

PMID40993898
PMCPMC12459132

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.