The Role of Prenatal Neurosonography in Identification of Tubulinopathy-Narrative Review.
Tubulinopathies are severe, non-progressive neurodevelopmental disorders caused by mutations in tubulin genes, leading to profound intellectual disability, drug-resistant epilepsy, motor impairment, and lifelong dependence on care. While historically diagnosed postnatally, advances in prenatal neuro...
| Autores: | , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2026 |
| País: | España |
| Institución: | Fundació Sant Joan de Déu |
| Repositorio: | r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu |
| OAI Identifier: | oai:dnet:r-fsjd______::461d5268869d7ec38db4efa3ddba6331 |
| Acceso en línea: | https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=30142 |
| Access Level: | acceso abierto |
| Palabra clave: | fetal brain malformations malformations of cortical development neurosonography tubulinopathies |
| Sumario: | Tubulinopathies are severe, non-progressive neurodevelopmental disorders caused by mutations in tubulin genes, leading to profound intellectual disability, drug-resistant epilepsy, motor impairment, and lifelong dependence on care. While historically diagnosed postnatally, advances in prenatal neurosonography now allow for the suspicion of this pathology in utero during routine second and early third-trimester anomaly scans. This narrative review synthesizes key findings from the literature published between 2019 and 2025 regarding prenatal ultrasonographic signs of tubulinopathies. Recognition of specific red-flag patterns should prompt dedicated neurosonography and targeted genetic testing. Early pregnancy detection is crucial for parental counseling and evidence-based decisions regarding pregnancy continuation. |
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