Spina Bifida

Spina bifida is a birth defect that occurs when the spine and spinal cord do not form properly.

Spina bifida is a type of neural tube defect. The neural tube is the part of an embryo that becomes a baby’s brain and spinal cord. The neural tube forms early in pregnancy and closes soon after conception.

With spina bifida, a portion of the neural tube does not close all the way.

Spina bifida has different types, which range in severity. It can cause symptoms including incontinence, loss of feeling or leg paralysis, and other problems.

There are treatments available to help with spina bifida.

Learn more about spina bifida, including its definition, causes, symptoms, diagnosis, treatment, and potential risks and complications.

What is spina bifida?

Spina bifida is a type of neural tube defect that occurs when the fetal spine fails to close completely during early development in the womb. This can lead to varying degrees of disability, depending on the type and severity of the defect.

What are the types of spina bifida?

The three main types of spina bifida are spina bifida occulta, meningocele, and myelomeningocele.

Spina bifida occulta

Spina bifida occulta is the mildest and most common form, where one or more vertebrae are malformed, but the spinal nerves are usually unaffected. Often, spina bifida occulta goes undetected without any visible signs or symptoms.

Spina bifida occulta is topically asymptomatic, but may include slight back pain or minor neurological issues in rare cases.

Meningocele

With meningocele, the meninges, protective membranes around the spinal cord, push out through an abnormal opening in the vertebrae, forming a sac filled with cerebrospinal fluid. The spinal cord remains in place.

Meningocele may cause mild problems, as the spinal cord is not severely affected, but can include potential issues with fluid build-up and risk of infections.

Myelomeningocele

Myelomeningocele is the most severe form of spina bifida, where the spinal cord and meninges protrude through the vertebral defect, forming a fluid-filled sac on the baby’s back. This type can result in significant neurological impairment.

Myelomeningocele is associated with severe disabilities, including paralysis, bowel and bladder dysfunction, and hydrocephalus (excess fluid in the brain).

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Causes of spina bifida

The exact cause of spina bifida is not known, but a compbination of genetic and environmental factors may affect how the neural tube develops. Risk factors for spina bifida may include:

• Genetic predisposition: Family history of neural tube defects can increase the risk of spina bifida.
• Environmental influences: Factors such as maternal diabetes, obesity, and exposure to high temperatures early in pregnancy.
• Folic acid deficiency: Insufficient intake of folic acid (vitamin B9) before conception and during early pregnancy significantly increases the risk of neural tube defects such as spina bifida.

Symptoms of spina bifida

Spina bifida symptoms depend on the type, size, and location of the gap in the spine. Symptoms may include:

• Neurological impairments: Including varying degrees of paralysis, loss of sensation, and difficulties with motor skills.
• Orthopedic issues: Such as clubfoot, hip dysplasia, and scoliosis.
• Bowel and bladder dysfunction: Problems with controlling bowel and bladder function due to nerve damage.

Symptoms specific to the type of spina bifida can include:

• Spina bifida occulta: Often asymptomatic, may have a small tuft of hair or dimple on the back.
• Meningocele: Visible sac on the spine, possible fluid build-up; usually less severe neurological impact.
• Myelomeningocele: Prominent sac on the back containing spinal cord and nerves, significant neurological impairment, potential hydrocephalus.

Diagnosis of spina bifida

In most cases, health care providers diagnose spina bifida during pregnancy. Tests used to for prenatal diagnosis include:

• Alpha-fetoprotein (AFP) test: Blood test measuring levels of AFP, a protein produced by the fetus. Elevated levels can indicate neural tube defects.
• Ultrasound: Prenatal imaging to visualize the spine and detect any abnormalities.
• Amniocentesis: Testing amniotic fluid for elevated AFP and other substances indicating the presence of spina bifida.

In mild cases without noticeable symptoms, spina bifida may be diagnosed in adulthood. Tests for this type of spina bifida may include:

• Physical examination: Comprehensive evaluation of the newborn, checking for physical signs such as a sac on the back or abnormal neurological findings.
• Imaging studies:
  • MRI: Detailed imaging of the spinal cord and structures.
  • CT scan: Cross-sectional images to assess the extent of the defect and associated conditions like hydrocephalus.
  • Neurological evaluation: Assessing motor and sensory function and identifying any deficits.

How is spina bifida treated?

Treatment can help manage symptoms of spina bifida. Treatment options range from medicine and therapy to surgery. Surgery can be done during pregnancy or shortly after birth. Treatment options may include:

Prenatal interventions

• Fetal surgery: In utero surgical repair of the spina bifida defect to reduce nerve damage and improve outcomes. Requires careful consideration and expertise.

Postnatal interventions

• Surgical repair: Closing the defect soon after birth to prevent infection and further damage.
• Shunt placement: Inserting a shunt to drain excess cerebrospinal fluid and manage hydrocephalus.

Medical management

• Physical therapy: To improve strength, mobility, and coordination; essential for maximizing independence.
• Occupational therapy: To aid in daily activities, adaptive strategies, and use of assistive devices.
• Urological management: Addressing bladder and bowel dysfunction with medications, intermittent catheterization, and bowel management programs.
• Orthopedic care: Treating and managing musculoskeletal issues with braces, surgery, or interventions for scoliosis and other deformities.

Potential risks and complications

If left untreated, spina bifida can cause problems including:

• Infections: Risk of meningitis or other infections if the spinal defect is not closed.
• Neurological decline: Progressive nerve damage and worsening of motor and sensory function.
• Hydrocephalus: Excessive fluid in the brain leading to increased intracranial pressure and potential cognitive impairment.

Spina bifida is a complex congenital condition that requires comprehensive, multidisciplinary care. Understanding the causes, symptoms, diagnostic methods, and treatment options is essential for managing the condition and improving outcomes. Early intervention and ongoing support are crucial for maximizing independence and quality of life. If you or a loved one is affected by spina bifida, consulting with a specialized medical team will help develop a comprehensive treatment plan tailored to your specific needs and circumstances.