Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort
These findings highlight the importance of applying, in particular, WES as a first-level clinical diagnostic test in patients with suspected genetic or complex diseases who are hospitalized in the NICU. Consequently, it is hoped that these results will support the development of clinical guidelines for the integration of molecular genetic testing into neonatal care in Colombia.
Authors
- Leslie Ivonne Martínez de la Barrera
- Mario A. Isaza-Ruget (ORCID: https://orcid.org/0000-0003-0243-9263)
- Juan Javier López Rivera (ORCID: https://orcid.org/0000-0003-4989-4853)
- Yecenia del Carmen Maicelo Rubio
- Paula Rueda‐Gaitán (ORCID: https://orcid.org/0000-0003-2209-9913)
- Néstor Nenroth Muñetones Reina
- Yina D. Carrillo
- Diego Alejandro Rodríguez Gutiérrez (ORCID: https://orcid.org/0009-0008-1925-7929)
Institutions
- Clínica Santa María (CO)
- Fundación Universitaria Sanitas (CO)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-08-21
- DOI
- https://doi.org/10.3389/fped.2025.1605166
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00