Spina Bifida

What is spina bifida?

Spina bifida is a birth defect in which the spine and spinal cord do not form properly before birth. The name comes from Latin and means “split spine.” During the first weeks of pregnancy, a structure called the neural tube normally closes to form the brain, spinal cord, and the bones that protect them. In spina bifida, part of this tube does not close completely, which can leave a gap in the bones of the spine (the vertebrae) and, in more serious forms, expose the spinal cord and the nerves that branch from it.

Spina bifida is present from birth and is one of the most common conditions affecting the nervous system in newborns. It can occur anywhere along the spine but is most often found in the lower back. The condition affects children of all backgrounds, and its severity varies widely. Some people have a very mild form that causes no problems and is discovered only by chance on an X-ray. Others are born with an open defect that requires surgery soon after birth and lifelong follow-up care from several specialists.

Doctors usually describe three main types of spina bifida:

• Spina bifida occulta – the mildest and most common type. “Occulta” means hidden. One or more vertebrae have a small gap, but the spinal cord and nerves are usually normal and covered by skin. Many people never know they have it.
• Meningocele – a sac of fluid pushes out through the gap in the spine. The protective membranes around the spinal cord (the meninges) are in the sac, but the spinal cord itself is usually not. Nerve damage is often mild or absent.
• Myelomeningocele – the most serious type, sometimes called open spina bifida. Part of the spinal cord and nerves protrude through the opening in the spine, often inside a sac that may or may not be covered by skin. This form typically causes nerve damage and other complications.

Understanding the types of spina bifida matters because symptoms, treatment, and long-term outlook depend heavily on which type a person has and where along the spine it is located.

Spina bifida symptoms

Spina bifida symptoms range from none at all to significant physical disability. In general, the higher the defect is on the spine and the more the spinal cord is involved, the more nerve function may be affected, because nerves below the level of the defect may not work normally.

Common signs and symptoms, depending on the type, include:

• A visible sac or opening on the back at birth
• A tuft of hair, dimple, birthmark, or fatty lump over the lower spine (sometimes seen in spina bifida occulta)
• Weakness or paralysis in the legs
• Reduced or absent feeling in the legs and feet
• Foot or leg deformities, such as clubfoot
• Difficulty controlling the bladder or bowel
• Curvature of the spine (scoliosis)
• An enlarged head in infants, caused by fluid buildup in the brain (hydrocephalus)
• Learning difficulties or problems with attention in some children

Spina bifida occulta usually causes no symptoms. In some cases, a person may notice back pain, mild weakness, or bladder changes later in childhood or adulthood, particularly if the spinal cord is tethered, meaning it is abnormally attached to surrounding tissue and stretched as the child grows. A dimple or patch of hair on the lower back is sometimes the only outward clue.

Meningocele may produce a visible bulge on the back but often causes little or no nerve damage. Some children have minor bladder or bowel issues.

Myelomeningocele is typically obvious at birth or before birth on ultrasound. Infants may have partial or complete paralysis of the legs, loss of sensation, and problems with bladder and bowel control. Many babies with this form also develop hydrocephalus, a buildup of cerebrospinal fluid (the fluid that surrounds the brain and spinal cord) that increases pressure inside the skull. A related brain condition called Chiari II malformation, in which part of the brain sits lower than normal at the base of the skull, is also common and can affect breathing, swallowing, and arm strength.

Symptoms can change over time. Growth spurts, weight changes, infections, or shunt problems (described below) may cause new or worsening problems, which is why ongoing monitoring is important throughout life.

Causes and risk factors

The exact spina bifida causes are not fully understood. Doctors believe the condition results from a combination of genetic, nutritional, and environmental factors that interfere with the closing of the neural tube in the first month of pregnancy, often before a woman knows she is pregnant.

Factors that are widely recognized to raise the risk include:

• Low folate (folic acid) intake – folate is a B vitamin needed for healthy development of the neural tube. Not getting enough before conception and in early pregnancy is the best-established modifiable risk factor.
• Family history – having a previous child with a neural tube defect, or a parent or close relative with spina bifida, increases the chance of it occurring again.
• Certain medications – some anti-seizure drugs, such as valproic acid, may interfere with how the body uses folate and are associated with a higher risk.
• Diabetes – poorly controlled blood sugar in the mother, especially before and during early pregnancy, is linked to an increased risk.
• Obesity – a higher body weight before pregnancy is associated with a higher risk of neural tube defects.
• High body temperature in early pregnancy – a high fever or heavy use of hot tubs and saunas in the early weeks has been associated with increased risk in some studies.
• Genetic conditions – spina bifida sometimes occurs together with chromosomal disorders, although most cases are isolated.

It is important to understand that spina bifida can occur in pregnancies with none of these risk factors. Having a risk factor does not mean a child will be affected, and parents of children with spina bifida did not cause the condition through anything they did or did not do.

Diagnosis

Spina bifida is often detected during pregnancy through routine prenatal screening, but it may also be diagnosed at birth or, in the case of mild forms, later in life.

During pregnancy

• Maternal blood test – a blood test, usually offered in the second trimester, measures a protein called alpha-fetoprotein (AFP). A raised level can suggest an open neural tube defect, although it can also be raised for other reasons, so it is a screening test rather than a diagnosis.
• Ultrasound – a detailed anatomy scan, typically performed around the middle of pregnancy, can often show the opening in the spine, a sac on the back, or changes in the brain that suggest spina bifida. Ultrasound is the main way the condition is identified before birth.
• Amniocentesis – in some cases, a small sample of the fluid surrounding the baby is taken with a thin needle and tested for AFP and other markers. Because this test carries a small risk, it is offered selectively and discussed carefully with the parents.
• Fetal MRI – magnetic resonance imaging of the baby may be used to gain more detail about the spinal cord and brain, particularly when fetal surgery is being considered.

After birth

Open forms of spina bifida are usually obvious on physical examination of the newborn. Imaging such as ultrasound, X-ray, computed tomography (CT), or MRI is then used to define the exact level and extent of the defect and to check for hydrocephalus or Chiari malformation. Doctors also assess leg movement, reflexes, and bladder function to estimate how much nerve function is affected.

Spina bifida occulta is frequently found by accident on an X-ray done for another reason, such as back pain. If a child has a skin marker on the lower back, such as a deep dimple, hair patch, or fatty lump, a doctor may order an ultrasound in infancy or an MRI later to rule out a tethered spinal cord or other hidden problems.

Treatment options

There is no cure for spina bifida, because the nerve damage that occurs before birth cannot be reversed. However, treatment can prevent further damage, manage complications, and help people achieve as much independence as possible. Care usually involves a team that may include a neurosurgeon, pediatrician, urologist (bladder specialist), orthopedic surgeon, physical and occupational therapists, and other specialists. At Acibadem, spina bifida surgery is carried out within the neurosurgery department in coordination with these related teams.

Observation

Most people with spina bifida occulta need no treatment at all. If there are no symptoms and imaging shows no problem with the spinal cord, doctors typically recommend simple monitoring and advise the family about symptoms to watch for.

Surgery after birth

For myelomeningocele and some meningoceles, spina bifida surgery is usually performed within the first days of life. The surgeon places the exposed spinal cord and nerves back inside the spinal canal and closes the opening with muscle and skin. The main goals are to prevent infection, such as meningitis, and to protect the nerves from further injury. This surgery does not restore nerve function that has already been lost.

Fetal surgery

In selected cases, surgery to close the defect may be performed before birth, typically between roughly the middle and later part of pregnancy. This operation is done on the baby while still in the womb, either through an opening in the uterus or with minimally invasive techniques. Research suggests it may reduce the need for a shunt and improve some outcomes in carefully chosen candidates, but it carries risks for both mother and baby, including premature birth. It is offered only at specialized centers after detailed evaluation and counseling.

Treatment of hydrocephalus

Many children with open spina bifida develop hydrocephalus. The most common treatment is a shunt, a thin tube placed by a neurosurgeon to drain excess fluid from the brain to another part of the body, usually the abdomen, where it is absorbed. Shunts can block or become infected and may need to be revised over a person’s lifetime. In some patients, an alternative procedure called endoscopic third ventriculostomy creates a new pathway for fluid to drain without a shunt.

Other procedures

• Surgery to release a tethered spinal cord if it causes worsening symptoms
• Orthopedic operations to correct foot deformities, hip problems, or scoliosis
• Urological procedures to help empty the bladder or protect the kidneys

Medication and bladder and bowel care

Nerve damage often affects bladder control. Many people learn to empty the bladder at regular intervals using a thin catheter (a technique called clean intermittent catheterization). Medications may be prescribed to relax the bladder and protect the kidneys from pressure damage. Bowel programs using diet, timing, laxatives, or enemas help many people manage bowel function predictably.

Rehabilitation and supportive care

Physical therapy helps maintain strength and flexibility and supports mobility. Depending on the level of the defect, a child may walk independently, use braces or crutches, or use a wheelchair. Occupational therapy supports daily living skills. Regular checks of skin, kidneys, vision, and learning are part of long-term care. Many people with spina bifida also have a latex allergy, so avoiding latex products is commonly advised.

Living with spina bifida and outlook

The outlook for people with spina bifida depends largely on the type, the level of the spinal defect, and whether complications such as hydrocephalus occur. People with spina bifida occulta typically live normal lives with no restrictions. With modern medical and surgical care, most children born with myelomeningocele now survive into adulthood, and many attend school, work, form relationships, and live independently, although the degree of physical disability varies from person to person.

Ongoing care remains important throughout life. Adults with spina bifida may need to monitor kidney function, watch for pressure sores on areas of skin with reduced sensation, manage weight, and stay alert to signs of shunt problems or spinal cord tethering. Transitioning from pediatric to adult care is a recognized challenge, and continuing to see specialists who understand the condition is generally recommended.

Emotional and social support also matter. Children may benefit from educational support for learning or attention difficulties, and families often find it helpful to connect with support organizations. Many people with spina bifida describe the condition as one part of their lives rather than something that defines them.

Frequently asked questions

What are the main types of spina bifida?

Doctors generally describe three types: spina bifida occulta, the mildest form in which there is a small gap in the vertebrae but the spinal cord is usually normal; meningocele, in which a fluid-filled sac protrudes but the spinal cord is typically not involved; and myelomeningocele, the most severe form, in which the spinal cord and nerves are exposed and nerve damage is common.

What are the first spina bifida symptoms parents notice?

In open forms, the most obvious sign is a sac or opening on the baby’s back at birth, and many cases are seen on prenatal ultrasound before delivery. In mild forms, parents may notice only a dimple, birthmark, or patch of hair over the lower spine, or no sign at all. Weakness in the legs and bladder problems may become apparent as the child grows.

What causes spina bifida?

The spina bifida causes are not fully known, but the condition develops when the neural tube fails to close in early pregnancy. A mix of genetic factors, low folic acid intake, certain medications such as some anti-seizure drugs, poorly controlled diabetes, and obesity are thought to contribute. In many cases no specific cause can be identified.

Is spina bifida occulta serious?

In most people, spina bifida occulta causes no symptoms and requires no treatment. It is often found by chance on an X-ray. Rarely, it is associated with a tethered spinal cord that can cause back pain, leg weakness, or bladder changes over time, so a doctor may recommend imaging if there are skin markers or symptoms.

When is spina bifida surgery performed?

For open spina bifida, surgery to close the defect is usually done within the first few days after birth to prevent infection and protect the nerves. In selected pregnancies, closure may be performed before birth at specialized centers. Additional operations, such as shunt placement for hydrocephalus or release of a tethered cord, may be needed later in life.

Can spina bifida be prevented?

Not all cases can be prevented, but taking folic acid before conception and during early pregnancy is widely recommended and has been shown to lower the risk of neural tube defects. Women who have had a previous affected pregnancy or who take certain medications may be advised by their doctor to take a higher dose.

Can people with spina bifida walk?

Many can. Mobility depends mostly on the level of the defect and how much nerve function is preserved. People with lower defects often walk independently or with braces, while those with higher defects may use crutches or a wheelchair for some or all activities. Physical therapy and orthopedic care support the best possible mobility for each individual.

When to see a doctor

Anyone with spina bifida should have regular follow-up with their care team, and pregnant women should attend routine prenatal screening. Some situations, however, need urgent medical attention. Seek emergency care right away if a person with spina bifida, especially one with a shunt, develops any of the following:

• Severe or worsening headache, repeated vomiting, or unusual sleepiness (possible shunt blockage or increased pressure in the brain)
• A bulging or tense soft spot on an infant’s head, or rapid increase in head size
• Fever with irritability, stiff neck, or redness and swelling along the shunt tract (possible infection)
• Seizures, confusion, or a sudden change in behavior or alertness
• New or worsening weakness, numbness, or loss of movement in the legs
• Sudden change in bladder or bowel control, or a rapid change in walking ability (possible tethered cord)
• Difficulty breathing, noisy breathing, or trouble swallowing in an infant (possible Chiari malformation problems)
• Fluid leaking from the surgical site on the back, or redness and swelling around it
• Signs of a kidney or bladder infection, such as fever, cloudy or foul-smelling urine, or back pain
• A skin sore on the buttocks, legs, or feet that does not heal or shows signs of infection

Contact a doctor promptly, even if not an emergency, for gradually increasing back pain, changes in foot shape, worsening scoliosis, or any new symptom that concerns you or your child. Early evaluation can often prevent small problems from becoming serious ones.