Spina Bifida and Neural Tube Defects J: Embryology, Genetics, Epidemiology, Management, and Therapeutic Advances
DOI:
https://doi.org/10.61166/clean.v3i2.33Keywords:
spina bifida, myelomeningocele, neural tube defects, neurulation, folate, fetal surgery, mesenchymal stem cells, Chiari II malformationAbstract
Spina bifida, a neural tube defect arising from incomplete closure of the developing spinal column, is the most common congenital anomaly of the central nervous system and a leading cause of lifelong physical disability. Despite decades of investigation, its pathogenesis remains incompletely characterized; however, substantial progress has been made in defining its genetic determinants and the molecular pathways governing neural tube development and closure. Parallel advances in clinical management have transformed patient care, with treatment evolving from conventional postnatal surgical repair to fetoscopic and open intrauterine correction, now regarded as a standard-of-care option for eligible candidates. In this review, we synthesize current knowledge of the classification, embryology, genetics, and epidemiology of spina bifida; examine its pathophysiology and associated complications; and survey established and evolving treatment approaches. We conclude by highlighting the CuRe Trial, the first FDA-approved clinical trial of stem cell therapy administered at the time of intrauterine repair, whose recently published phase 1 results suggest a potential paradigm shift in the management of this condition.
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