Center Fellow Akos Herzeg, MD, and colleagues have conducted a scoping review of current literature to better understand the causes and the genetic basis of primary hydrocephalus.
Among the over 160 genes linked to this condition, single-gene mutations in L1CAM, TRIM71, MPDZ, and CCDC88C have emerged to play a critical role in the development of primary hydrocephalus. Some may represent promising targets for prenatal somatic cell gene therapy, potentially preventing pathogenic phenotypes, improving neurodevelopmental outcomes, and reducing the need for pre- or postnatal surgical approaches.
Considering the emerging nature of prenatal molecular therapies and the absence of established guidelines, this review provides a comprehensive overview of current knowledge, encouraging the clinical and scientific community to reassess and refine practices for optimal assessment and management.
Publication: The Conundrum of Mechanics Versus Genetics in Congenital Hydrocephalus and Its Implications for Fetal Therapy Approaches: A Scoping Review. Prenatal Diagnosis. 2024 Sept 1.
