Prenatal Diagnosis of Tubulinopathy: Case Report of Neurosonographic Features and a Novel TUBA1A Variant
This case offers a detailed characterization of the subtle neurosonographic phenotype in this fetus with early manifestation of malformations of cortical development related to tubulinopathy and provides information regarding the novel variant in the TUBA1A gene. It further underscores the importance of neurosonography and genetic analysis in identifying tubulinopathies and informing clinical decision-making during pregnancy.
Authors
- Brynn Levy (ORCID: https://orcid.org/0000-0002-4213-3480)
- G. Malinger (ORCID: https://orcid.org/0000-0003-0864-206X)
- Sarah Reiss
- Vaidehi Jobanputra (ORCID: https://orcid.org/0000-0003-0962-7873)
- Caitlin Baptiste (ORCID: https://orcid.org/0000-0002-6585-8265)
- Eran Bornstein (ORCID: https://orcid.org/0000-0002-2603-8272)
- Amanda Thomas‐Wilson (ORCID: https://orcid.org/0000-0001-5875-8349)
Institutions
- Columbia University Irving Medical Center (US)
- Tel Aviv Sourasky Medical Center (IL)
- Lenox Hill Hospital (US)
- LabCorp (United States) (US)
- New York Genome Center (US)
Publication Details
- Journal
- Fetal Diagnosis and Therapy
- Published
- 2025-10-31
- DOI
- https://doi.org/10.1159/000549349
- Citations
- 1
- Primary Topic
- Fetal and Pediatric Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.49