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

Authors

Paulina Bartoszek, François Boemer, Kristine Hovhannesyan, Valérie Jacquemin, Flavia Piazzon, Davood Mashhadizadeh, Vincent Bours, Laura Helou, Vincent Rigo, Nadège Hennuy, Tamara Dangouloff, Laurent Servais

Published in

International ophthalmology clinics. Volume 65. Issue 4. Pages 47-50. Oct 01, 2025. Epub Sep 25, 2025.

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.

PMID:
40993898
Bibliographic data and abstract were imported from PubMed on 25 Sep 2025.

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