Spina bifida is a developmental issue for a fetus marked by spinal cord and vertebrae structural changes. While environmental factors can cause this condition, genetics may also play a role.

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Spina bifida is the most common central nervous system developmental issue for a fetus. It affects around 1 out of every 2,758 births in the United States. While some people with spinal bifida may not have notable health effects, others may experience significant effects that may interfere with their daily activities.

Experts don’t know the exact cause of spinal bifida. But they do know that different environmental and genetic factors may increase the risks of having this condition.

Genetics may play a role in a person’s risk of spinal bifida. That said, there isn’t just one gene that may be involved.

More than 240 different genetic mutations linked to spina bifida in studies on mice. In humans, spina bifida linked to autosomal dominant inheritance of the following genes:

  • VANGL1
  • VANGL2
  • FUZ
  • CELSR1
  • TBXT

MTHFR is yet another gene that may link to spina bifida. In particular, people with mutations in MTHFR may have difficulty metabolizing folate, which is an important vitamin that protects against neural tube defects.

Some individuals may have spinal bifida with another genetically inherited condition, like Down syndrome, Edwards syndrome, or Patau syndrome.

Spina bifida is a developmental issue for a fetus that affects the spine and spinal cord. It’s a neural tube defect.

The neural tube is part of an embryo that develops into the brain and spinal cord. This means that spina bifida occurs very early in pregnancy, often before an individual knows they are pregnant. Spina bifida happens if the neural tube doesn’t form correctly or close as it should.

As a result, parts of the spinal cord and nerves may grow in a sac on a person’s back outside the vertebra. The effects of this condition can range from mild to severe.

There are three main types of spinal bifida.

Type Effects
Spina bifida occulta“Occulta” means “hidden.” This is the mildest form of spina bifida and may not have symptoms. Doctors may detect it as they test for other medical conditions.
MyelomeningoceleIt’s also called “open spina bifida” and is the most severe form. An uncovered section of the spinal cord can be visible in a sac through an opening in the spine.
MeningoceleThis form involves the meninges, or membranes, that protect the brain and spinal cord. It results in a sac of spinal fluid on the spine. People may experience mild symptoms.

Some people with spinal bifida may not have symptoms. Others may experience:

Environmental factors may also cause spinal bifida. Unlike genetics, these factors are ones a person can manage.

Folic acid is a B vitamin. Its natural form, folate, is in foods like broccoli, brown rice, and fortified foods like cereals. Experts share that not consuming enough folic acid before and in early pregnancy can increase the risk of neural tube defects.

Taking certain medications during pregnancy may also increase the risk of spinal bifida and other developmental issues for a fetus. Drugs specifically linked to spinal bifida include valproate and carbamazepine, which can treat epilepsy, bipolar disorder, and related conditions.

Births of babies with spinal bifida might occur more often in people of Hispanic descent or those with:

The outlook for people with spinal bifida is highly individual and depends on the type of spina bifida they have.

People with spina bifida occulta may not know they have the condition. People with more severe types can still lead full lives with the right support, therapies, and continued medical care.

What if my doctor discovers that my baby has spinal bifida during pregnancy?

Each case is unique. In some pregnancies, your doctor may suggest waiting until the baby is born for further assessment and treatment. In other cases, your doctor may suggest prenatal surgery to correct the developing spinal cord.

What treatments may help a person with spinal bifida?

Treatment for spinal bifida depends on the severity and may range from surgery soon after birth to physical therapy, occupational therapy, and learning support. Some people may also benefit from wheelchairs or other mobility aids.

How much folic acid should I take to help with prevention?

Experts recommend that women supplement with 400 micrograms of folic acid per day and eat a diet rich in folate.

Despite identifying specific genes linked to spinal bifida, researchers believe spinal bifida may result from various genetic mutations and environmental factors.

Make an appointment with your doctor to discuss your individual risk factors for having a child with spinal bifida. This condition happens in the earliest pregnancy stages, so taking folic acid, stopping certain medications, and managing other health conditions may lower your risk.