Spina Bifida: Causes, Diagnosis, and Treatment

Spina bifida is a condition in which the vertebral bone that protects the spinal cord does not fully develop. Normally, this begins to develop in the first month of pregnancy. But in spina bifida, there is a defect that leaves a space open. And this exposes the spinal cord to damage. 

There are three types of spina bifida. 

• Myelomeningocele: This is when a sac containing part of the spinal cord comes out through the opening. This is the most severe type because usually the spinal cord and nerves are damaged. 

• Meningocele: This is when the sac coming out through the opening only has fluid. This type will typically cause fewer neurological problems. 

• Spina bifida occulta: This is the most common form. In this type, there is a small opening, but no sac comes out of it.  

Spina bifida is fairly common. Every year in the U.S., about 1 in every 2,758 babies is born with spina bifida. 

What causes spina bifida, and who’s at risk?

It’s not entirely clear why some people are born with spina bifida. There might be genetic or environmental factors at play. Factors that may increase the risk of having a child with spina bifida include:

• A lack of folic acid

• Exposure to radiation, pollution, and pesticides

• Smoking or drinking alcohol

• Use of anti-seizure medications (like valproic acid and carbamazepine)

• Diabetes

• Anxiety

• A family history of spina bifida (you have it or you have a child who has it) 

Taking folic acid supplementation before and after pregnancy may reduce risk. This is especially important if you have a known family history of spina bifida.

What are the symptoms of spina bifida?

One of the first things you may notice in a newborn with spina bifida is an obvious opening in the back. This opening may vary in appearance. In some cases, it may look like a sac filled with fluid and covered with a clear thin film.

Other symptoms of spina bifida may include:

• Leg weakness

• Difficulty walking 

• Reduced sensation in the legs

• Bowel and bladder problems

• Low intellect

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The severity of symptoms may depend on where the defect is located. If the defect is higher in the spine, neurological problems are more likely. These children may have greater leg weakness, scoliosis, and problems with their bowel and bladder. 

With a defect lower in the spine, a child may only have weakness and deformities in their feet. 

How do you diagnose spina bifida?

One of the ways healthcare providers diagnose spina bifida is during pregnancy. This can occur by:

• Blood test: High levels of alpha-fetoprotein (AFP) in the pregnant mother’s blood tests raise the suspicion of spina bifida in the baby. AFP levels are first measured between 15 and 20 weeks of pregnancy.

• Amniocentesis: Providers can also measure the levels of AFP in the amniotic fluid. This is the fluid that surrounds the baby. Your provider will use a needle to take a fluid sample and send it to the lab to be checked.

• Ultrasound: This imaging test may show if the baby has spina bifida or any other birth defects.

• MRI (magnetic resonance imaging): MRI may be useful in diagnosing spina bifida. This is especially true if the surgeon is considering operating on the baby in the womb.

But diagnosis doesn’t always happen in pregnancy. After a baby is born, the provider may notice a hairy patch or a dimple on the baby’s back. An X-ray, MRI, or CT (computed tomography) scan may help in these cases to take a closer look at the spine. 

Sometimes spina bifida occulta is detected later, even in adulthood. In this type of spina bifida, the gap in the vertebral bone is very small. So you often can’t see it with the bare eye, and it may go undiagnosed. Spina bifida occulta may be first diagnosed by chance when having X-ray tests for low back pain. 

What are the most common complications of spina bifida?

An opening in the back while in the womb can cause the spinal cord to deteriorate. That’s because amniotic fluid is toxic to nerve cells. And it can damage the nerve signals that run from the brain to down to the lower body. This can affect lower body movement and sensation. It may also affect the signals to the bowel and bladder. 

Other common complications of spina bifida include:

• Skin pressure sores

• Orthopedic problems (like hip dislocation and scoliosis)

• Tethered spinal cord (scar tissue causing the spinal cord to kink) 

• Hydrocephalus (fluid buildup in the brain)

• Latex allergy

• Urinary complications (like incontinence, urinary tract infection, kidney stones)

• Fecal incontinence 

• Malnutrition

• Problems with sexual function

• Depression or anxiety

How do you treat spina bifida?

Treatment usually involves surgery. This can either occur before birth or after birth. When spina bifida is detected after a baby is born, the surgery usually occurs within 2 days. The surgery involves closing the baby’s back to avoid an infection.

Some babies have repair surgery while still in the womb. Although there are some risks, these babies may do better than those who have surgery after birth. 

Medical care for children and adults with spina bifida focuses on treating the symptoms and complications. These vary from person to person. Common treatments for people with spina bifida include:

• Shunt placement (to decrease fluid on the brain)

• Spinal surgery for scoliosis

• Bracing, stretching, or casting for orthopedic deformities 

• Bladder management (like catheterization, injections, or medications for overactive bladder) 

• Bowel management with suppositories, enemas, or laxatives

Resources to help children and adults with spina bifida

There are many resources to help children and adults with spina bifida. These can include:

• Mobility training: Learning how to move around to explore the environment can help a child’s development and improve independence for adults.

• Early intervention programs: These help by connecting children with physical and occupational therapists. They can help to work on flexibility and strengthening exercises.

• Equipment and positioning: Some people may need braces, casts, splints, walkers, or wheelchairs. Therapy teams can teach how to properly use equipment.

• School support: Some children and adults may need special education programs and services. 

• Sports and recreation: There are special camps and other recreational services for children and adults with spina bifida. Check your local, national, or international spina bifida associations.

• Psychological care: Some people may need mental health support and services.

• Transitioning into adult healthcare: A healthcare team can teach people how to coordinate self-care and the transition to adult care. Marriage, sexuality, and genetic counseling are other issues to consider.

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Written by:

Itza Rivera, MD

Dr. Rivera is a board-certified physical medicine and rehabilitation specialist. She completed her medical degree and residency training at the University of Puerto Rico School of Medicine, and her neuromuscular disorders subspecialty training at Northwestern University.

Edited by:

Karla Robinson, MD

Karla Robinson, MD, is a medical editor for GoodRx. She is a licensed, board-certified family physician with almost 20 years of experience in health through varied clinical, administrative, and educational roles.

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