What is Spina Bifida?

What is Spina Bifida?

Spina bifida, which occurs when the spinal cord and spine do not fully close during the development of the baby neural tube defectdir. The heaviest and most common form myelomeningocele which leads to the exposure of the spinal cord and nerves in the dorsal region. Milder types are classified as meningocele (membrane protrusion only) and spina bifida occulta (hidden opening under the skin). Spina bifida occurs in about 1/2 of 875 live births each year in the U.S.; adequate intake of folic acid in the mother significantly reduces the risk.

Causes and Risk Factors

• Folic acid deficiency: In women who take 400 µg of folic acid per day before pregnancy and in the first trimester, the risk of spina bifida is reduced by up to 70%.
  
  
• Genetic tendency: The risk increases in couples with a neural tube defect in a previous pregnancy.
  
  
• Maternal diabetes, obesity, certain medications (eg valproate) These are also factors that increase the risk.
  
  
• Environmental factors: Exposure to excessive heat (high fever, sauna), malnutrition and smoking/alcohol use can also contribute.
  
  

Types of Spina Bifida

Diagnostic Methods

Prenatal Period

• Alpha-fetoprotein (AFP) in maternal blood screening (14—18 weeks).
  
  
• Detailed ultrasonography with demonstration of spinal patency and brain findings (e.g. lemon-banana finding).
  
  
• Fetal MRI detailed viewing on the order of.
  

Postpartum

• Physical examination: Scabies on the back, skin changes, lack of motor sense.
  
  
• Spinal MRI indicates the level of the spinal cord and the contents of the sac.
  
  
• Brain US/MRI: Screening for hydrocephalus and Chiari II malformation
  

Treatment Options

Prenatal Surgery

• Open fetal repair (MOMS protocol): At 24—26 weeks, the defect is closed by entering the uterus by hysterotomy. The MOMS study showed that it reduced the need for shunt and engine loss.
  
  
• Fetoscopic closure (two-port method): Fewer uterine scarring and similar neurodevelopmental outcomes were reported. The choice of candidate is very important, as prenatal surgery can increase the risk of premature birth of the mother and the risk of fetal death.
  
  

Postnatal Surgery

• Closing of the meninges and skin in the first 72 hours reduces the risk of infection and protects the nerves.
  
  
• Ventriculoperitoneal shunt or endoscopic third ventriculostomy It can be done to drain cerebrospinal fluid in infants who develop hydrocephalus.
  

Long Term Multidisciplinary Care

• Orthopedic Interventions: Scoliosis, hip dislocation, crooked foot surgery, orthosis-walking devices.
  
  
• urology: Clean interval catheterization, anticholinergic drugs and bladder reconstruction if necessary.
  
  
• Bowel Management: diet, laxatives, antegrade enema (ACE) procedure.
  
  
• Physiotherapy and Rehabilitation: Muscle strength preservation, sitting-walking training.
  
  
• Neuropsychology and Educational Support: Special training plans for learning disabilities, attention problems.
  
  
• Transition Programs: Updated guidelines on the transition from adolescence to adulthood emphasize continuity of care.
  

Protection and Awareness

• Folic Acid Supplement: All women planning a pregnancy should take 400 µg of folic acid per day, starting at least 1 month before conception.
  
  
• Containing folic acid food enrichment (bread‑flour) reduces neural tube defects by 50—70%.
  
  
• Healthy pregnancy: control of diabetes, prevention of obesity, replacement of drugs (antiepileptics) that increase the risk of neural tube defects (antiepileptics) if necessary.
  

Living with the Disease: A Guide for Families

Most individuals with spina bifida reach adulthood with proper care. Basic recommendations for families:

1. Care Coordination: Regular communication with the Spina Bifida Care Coordinator or experienced pediatric neurosurgery team.
   
   
2. Home Adaptations: Ramp, bathroom handles, wheelchair access.
   
   
3. School Integration: Individualized Training Programs (BEP), integration of rehabilitation hours into the curriculum.
   
   
4. Psychosocial Support: Peer groups, counseling through Spina Bifida Associations (SBA).
   
   

Transition Planning: Self-care training from age 12; transition to adult spina bifida clinics after age 18.