Spina Bifida

Spina Bifida
• Neural Tube Defect:
• When the neural tube fails to properly close during the 4th week
embryogenesis.
• One of the most common severely disabling birth defects in the
United States
• Approximately 1 in every 2,000 births is affected.
• Currently there is no cure.
• Three types of Spina Bifida
• Spina Bifida Occulta-Least Severe!
• Abnormal opening of spine-may have dimple on the skin, tufts of
hair, or nothing visible
• Commonly this isn’t even noticed
• Meningocele
• Protective coverings are pressed through openings in the vertebrae
and form a herniation
• Corrective surgery can be done
• Myelomeningocele-Most Severe!
• Vertebrae fail to fuse and the protective coverings, spinal nerves,
and spinal cord protrude
• The spinal cord fails to develop properly and nerves are damaged
 Development of spina bifida
in utero
Spina tissue is not present in
the sac in meningocele spina
bifida
RISK FACTORS
• Family History
• Obesity
• Medication such as some anticonvulsants
• Genetic
• Folic acis defeciency
• Symptoms/Results:
• Paralysis of the legs
• Incontinence of urine and feces
• Anesthesia of the skin
• Abnormalities of the hips, knees, and feet.
• Hydrocephalus
• Build up of fluid on the skull or brain swelling
• Arnold-Chiari type II malformation
Pathogenesis
• Folic acid deficiencies from lack of intake before and during
pregnancy have shown to be a cause
• The Folate Metabolism Pathway is suspected to be a major
contributor
• the most commonly studied thermolabile mutation (C677T) in the
MTHFR gene
• 5,10-methylene tetrahydrofolate reductase (MTHFR)
DIAGNOSIS
• ANAMNESIS
• MSAFP
• USG
• AMNIONSENTESIS
Treatments
• Surgeries are being completed in utero to help
correct the problem
• This treatment helps preserve neurological function
• Surgery is the primary form of treatment with
many surgeries being performed shortly after
birth
• Folate supplementation helps prevent the defect
through amino acid synthesis and reducing
homocysteine levels