What is Spina Bifida?

Spina bifida is a type of neural tube defect, or a condition that affects the spine. It is usually evident at birth.

This birth defect occurs during the first stage of pregnancy, when a baby’s spine and spinal cord begin to develop. If the spine does not form normally, the spinal cord and nerves may be damaged. Sometimes, this defect causes a visible opening in the baby’s back, which might allow the cord to push through. In other cases, the defect is hidden beneath the skin.

Baptist Health is known for advanced, superior care in diagnosing and treating adults with spina bifida. You will appreciate timely appointments and a professional, friendly atmosphere where we take time to listen to your concerns. At Baptist Health, you have access to the region’s most comprehensive, multidisciplinary team of specialists and innovative therapies, including many available only through specialized clinical trials. In every way, we work to demonstrate the utmost in excellent care to those who trust us with their health.

Types of Spina Bifida

Spina bifida can range from mild to severe. It can present in three forms:

• Spina bifida occulta: This mild form is a small gap in one or more of the bones (vertebrae) of the spine. Spinal nerves usually aren’t involved, and symptoms are rare. Many people who have this form don’t even know it.
• Meningocele: In this rare form, the protective membranes around the spinal cord (meninges) push out through the opening in the vertebrae, but the spinal cord develops normally.
• Myelomeningocele: In this severe form, also known as open spina bifida, a baby’s spinal canal remains open along several bones in the lower or middle back. The membranes and spinal cord protrude at birth, appearing as a sac on the infant’s back. In some cases, skin covers the sac. In most cases, tissues and nerves are exposed – putting the baby at risk for life-threatening infections. Neurological (nervous system) problems are common.

Signs and Symptoms

Spina bifida symptoms vary, depending on the type.

Spina Bifida Occulta Symptoms

Spina bifida occulta often produces no symptoms. If signs are present, on the skin above the defect, they include:

• An abnormal tuft of hair
• A collection of fat
• A small dimple or birthmark
• A small opening on a baby’s spine, through which the spinal cord membrane (meninges) protrudes. This membrane can often be removed easily through surgery.

Myelomeningocele Symptoms

Myelomeningocele symptoms are more severe, and can include:

• An opening at a baby’s middle or lower back, through which the membranes and spinal cord protrude
• Bowel and bladder problems
• Muscle weakness in the legs
• Orthopedic problems, such as deformities in the spine, hips or feet
• Seizures
• Hydrocephalus

Meningocele Symptoms

Symptoms of meningocele type of spina bifida include:

• Small opening in the infant’s back
• Sack or lump that is noticeable at birth
• Membranes protrude through the opening in the vertebrae, causing a lump or sack on the back
• Normal development of the spinal cord (the spine is undamaged)

In this type of spina bifida, the membranes can be surgically removed and repaired with little to no nerve damage.

Diagnosis

To determine if a baby has spina bifida, we use advanced diagnostic procedures and technology to effectively diagnose, inform treatment and carefully monitor the condition. Diagnostic procedures can include:

• Amniocentesis: If a pregnant woman’s blood test shows high levels of AFP, but an ultrasound exam is normal, the physician may recommend this procedure, during which he or she uses a needle to remove a sample of fluid from the amniotic sac. An elevated level of AFP in the fluid indicates a neural tube defect.
• Maternal blood tests:  A pregnant woman’s physician will draw a blood sample and send it to the laboratory, where it will be tested for a protein called alpha-fetoprotein (AFP), produced by the baby. High levels of AFP may indicate that the baby has a neural tube defect.
• Newborn examination: Severe forms of spina bifida will be evident at birth.
• Ultrasound: A physician or sonographer can use high-frequency sound waves to detect signs of spina bifida in a developing baby.

Causes

The exact cause of spina bifida is unknown. It seems to result from a combination of genetic and environmental risk factors.

Risk Factors

Risk factors that may contribute to spina bifida include:

• Ethnicity: Hispanic and white babies are most frequently diagnosed with spina bifida.
• Family history: A history of neural tube defects in first-degree relatives increases the risk for spina bifida.
• Gender: Female babies are affected more often than males.
• Increased maternal body temperature: Higher-than-normal maternal body temperature in the first few weeks of pregnancy – from fever or frequent use of saunas and hot tubs – is associated with an increased risk of spina bifida.
• Maternal diabetes: Spina bifida is more common among babies born to mothers with poorly controlled diabetes.
• Maternal folate deficiency: Folate (vitamin B9) is important for the healthy development of a baby. A mother’s deficiency increases the risk of spina bifida.
• Medications: Certain anti-seizure medications seem to cause neural tube defects, possibly because they can affect maternal folate and folic acid absorption.

Prevention

To help prevent spina bifida, women who are pregnant or planning to become pregnant should take prenatal vitamins containing the synthetic form of folate, called folic acid, and eat food fortified with folic acid. Pregnant women should also avoid saunas and hot tubs, keep blood sugar under control and ask their doctors if they should continue taking anti-seizure medications.

Prognosis

Most children with spina bifida lead active, healthy lives. The milder forms of spina bifida do not produce symptoms.

Treatment and Recovery

Treatment of spina bifida may include:

Cesarean Delivery

Many babies with myelomeningocele, or open spina bifida, tend to be in a feet-first (breech) position. If the baby is breech or the doctor has detected a large protruding cyst, cesarean birth may be recommended.

Post-surgical Care

Babies with severe spina bifida may need additional operations to treat complications. These infants often require treatment for bladder and bowel problems, physical therapy to prepare the legs for walking with braces and crutches, and surgery to limit disability from a tethered spinal cord (spinal cord bound to scar tissue).

Prenatal Surgery

In some cases, during the second trimester, a surgeon will expose a pregnant mother’s uterus, open the uterus and repair the baby’s spinal cord before birth. Though babies who undergo prenatal surgery may have fewer complications, the surgery is risky for the mother and may cause premature delivery.

Surgical Procedures

To treat meningocele, a surgeon puts the meninges (membrane) back in place and closes the opening in the skin. Myelomeningocele, or open spina bifida, also requires surgery, usually within a day or two of birth. During the procedure, a surgeon places the spinal cord and exposed tissue inside the baby’s body and covers them with muscle and skin.  This can reduce the risk of potential infection.

Complications

Spina bifida can cause complications including:

• Fluid accumulation in the brain: Known as hydrocephalus, this condition requires a shunt to be placed which drains fluid, as needed, into the baby’s abdomen.
• Infection in tissues surrounding the brain: Also known as meningitis, this infection can cause brain damage and be life-threatening.
• Learning disabilities: Some children with severe spina bifida may experience problems reading, learning language or math, or may have difficulty paying attention.
• Physical and neurological problems: Babies and children with severe spina bifida may lack bladder and bowel control and experience weakness or paralysis in the legs.