Congenital defects of the brain, spine, or spinal cord due to failure of neural tube closure in early pregnancy. Includes anencephaly, encephalocele, and spina bifida (myelomeningocele, meningocele). Folic acid deficiency major risk factor.

• 1Genetic testing
• 2Clinical evaluation
• 3Family history assessment
• 4Specialized laboratory tests
• 5Imaging studies
• 6Biopsy (if applicable)

Folic acid fortification has reduced incidence by 70%. Closed spinal dysraphism has excellent outcome with surgery. Open myelomeningocele: motor function level determines ambulation (50% community ambulators with thoracic-lumbar lesions). Shunt-dependent hydrocephalus in 80-90%. Chiari II malformation may require decompression. Neurogenic bladder requires lifelong management. Regular multidisciplinary follow-up essential. Independent living possible with appropriate support.

• Genetic counseling
• Carrier screening
• Prenatal diagnosis
• Preimplantation genetic diagnosis
• Family planning