Overview

Spina bifida is a congenital neural tube defect (NTD) that occurs when the spine and spinal cord don’t form properly during early pregnancy. It can vary in severity, ranging from mild cases with no symptoms to severe cases that cause significant physical and neurological disabilities. Spina bifida is typically classified into three main types: spina bifida occulta, meningocele, and myelomeningocele.

Historically, the first documented cases of spina bifida can be traced back to the ancient Egyptians. However, its clinical recognition began in earnest during the 17th century. Advances in medical imaging and prenatal care in the 20th century increased the ability to diagnose and understand this condition. Surgical interventions have also progressed, allowing for in-utero repairs that improve outcomes for affected infants.

Causes

Genetic Factors: Family history of neural tube defects.

Environmental Factors: Lack of folic acid (vitamin B9) before and during early pregnancy.

Medications: Certain medications taken during pregnancy, such as anti-seizure drugs, can increase the risk.

Risk Factors

  • Family history of neural tube defects.
  • Maternal diabetes.
  • Obesity during pregnancy.
  • Increased body temperature during early pregnancy, such as from fever or the use of hot tubs and saunas.
  • Folate (vitamin B9) deficiency.

Complications

Mobility Issues: Difficulty walking or total paralysis.

Bladder and Bowel Problems: Incontinence or frequent infections.

Kidney damage: High bladder pressures or recurrent infections can injury the kidney and cause loss of function.

Hydrocephalus: May require surgical intervention to drain excess fluid.

Learning Disabilities: Some children may have difficulty with attention, memory, and learning.

Skin Problems: Ulcers or sores due to reduced sensation.

Orthopedic Issues: Scoliosis, dislocated hips, or foot deformities.

Prevention

  • Folic Acid Supplementation: Women of childbearing age should take 400 micrograms (mcg) of folic acid daily before conception and during early pregnancy.
  • Healthy Pregnancy: Managing pre-existing health conditions, avoiding harmful substances, and maintaining a healthy weight.
  • Genetic Counseling: For families with a history of neural tube defects.

Symptoms

When to see a doctor