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Spina Bifida: What You Need to Know About This Congenital Disorder

spina bifida

Story at-a-glance -

  • Spina bifida (meaning “split spine” in Latin) is a complex neurological birth defect wherein a part of the neural tube doesn’t close all the way during fetal development, eventually causing a gap in the vertebral column
  • One of most prevalent forms of neural tube defects is spina bifida. It may cause life-altering disabilities, but with help, may be managed
  • Learn more about spina bifida causes, symptoms and treatment, along with how you can prevent and manage this condition

Every year, approximately 8 million infants (6 percent of newborns) worldwide are born with a congenital disorder,1 300,000 of whom have a neural tube defect (NTD).2 This type of birth defect occurs when the neural tube (an embryo structure that eventually becomes the brain, spinal cord and spinal column) does not develop normally by the 28th day of pregnancy, resulting in malformation somewhere along its length.3,4

One of most prevalent forms of neural tube defects is spina bifida.5 This condition affects 1 out of every 2,858 babies born in the U.S., amounting to approximately 1,460 cases every year.6 It may cause life-altering disabilities, but with help, may be managed. Ninety percent of affected babies may still be able lead a full life.7

What Is Spina Bifida?

Spina bifida (meaning “split spine” in Latin8) is a complex neurological birth defect wherein a part of the neural tube doesn’t close all the way during fetal development, eventually causing a gap in the vertebral column. Sometimes, a sac of spinal fluid may protrude at the site of the opening. In severe cases, this sac may also hold a portion of the spinal cord and nerves, which may be damaged over time.9

Spina bifida can occur anywhere along the spine. It can lead to physical and intellectual disabilities, the severity of which may differ for every patient depending on the type, size and location of the opening on the spinal column.10

As with other neural tube defects, spina bifida develops during the first month of pregnancy.11 Even though it has been thoroughly studied over the past decades, its exact cause is still unknown. Researchers speculate that this condition may be caused by both genetic and environmental factors.12

Spina Bifida Types

Spina bifida is categorized into three main types according to the severity and location of the gap in the spine:

Spina bifida occulta (SBO) — Characterized by a small gap in the spine, SBO is considered the mildest form of spina bifida. It doesn’t affect the spinal cord or the nerves in most cases. It also doesn’t cause any visible malformation, hence the term “occulta,” which means “hidden” in Latin.13

According to the Spina Bifida Association, 10 to 20 percent of healthy people in the U.S. unknowingly have this condition. Those who have SBO often find out about it after getting an X-ray for other medical reasons.14

Meningocele — Considered the rarest form of spina bifida, meningocele is a condition wherein the meninges (which are membranous coverings for the spinal cord) protrude through the gap in the vertebral column, creating a fluid-filled sac. This sac does not contain the spinal cord or nerves, so its prognosis is usually associated with normal neurological outcome.15

Meningocele is commonly found on the lower lumbar and lumbosacral regions, but it may also affect the cervical and thoracic areas.16

Myelomeningocele — Also known as “spina bifida cystica” and “open spina bifida,” myelomeningocele is the most severe form of this congenital disorder, with the spinal cord itself pushing out of the gap in the spine and forming a sac that also contains the meninges and neural elements.17,18 It accounts for 75 percent of the reported cases of spina bifida.19

Living With Spina Bifida

Spina bifida has always been viewed as a complex birth defect with a low chance of survival. But with the right treatment and a stable support system, the life expectancy of some children with spina bifida can be significantly improved, allowing them to survive well into adulthood and lead fulfilling lives despite the physical, mental, social and emotional challenges that they may experience.19,20

If your child has spina bifida, you should help them develop independence early in childhood to increase their confidence later in life. You should also teach them about their condition and the changes that it may have on their body.

The health issues caused by spina bifida may vary from one child to another — some may develop issues that are more severe than other children, which may affect their mobility and physical activity. Regardless of the severity of their condition, it’s important for a child with spina bifida to engage in regular physical activities such as playing, going around the neighborhood, visiting parks and doing exercises recommended by a physical therapist.

Even adults with spina bifida may constantly face challenges, especially with work, transportation, living independently and developing healthy relationships. One of the ways to cope with this condition during adulthood is by talking to health care professionals that care for adults with spina bifida, and undergoing counseling to alleviate feelings of anxiety, stress, isolation and depression.

Learning how to manage the symptoms of this condition through a proper diet and treatment plan is also another way to lessen its impact on quality of life.21

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Spina Bifida Causes

It’s still not known what exactly causes spina bifida, but researchers speculate that a combination of the following genetic, environmental and nutritional factors may play a role in its development:22

Folate (vitamin B9) deficiency — This is considered the biggest risk factor linked to spina bifida, as well as other NTDs.

According to a discussion in the Ciba Foundation Symposium, folate is involved in the methylation cycle and is a cofactor for the enzymes used in DNA and RNA synthesis.

Hence, a deficiency in it may interrupt the DNA biosynthesis and methylation reaction, which in turn prevents the proper closure of the neural tube.23

Family history of NTDs — According to a study published in the Nature Reviews Disease Primers, a child’s risk of having spina bifida increases by 2 to 5 percent if they have an older sibling who also has this disease.

Second- and third-degree relatives also have a higher risk of developing this condition than the rest of the general population.24

DiabetesGestational diabetes has been a well-known teratogen, an agent that can disturb the development of an embryo or fetus, causing congenital defects like spina bifida.25,26

According to a study published in the Journal of Family and Community Medicine, poorly controlled gestational diabetes increases a woman’s risk of having a child with NTD by 6 to 10 percent.27

ObesityA 1996 study published in the journal Epidemiology shows that obese women have almost twice the risk of having a child with spina bifida compared to average-weight women.28

A study published in the journal Pediatrics also confirms the association of spina bifida with pre-pregnancy maternal obesity.29

Certain medications — The use of antiepileptic drugs (AED), particularly valproic acid and carbamazepine, during pregnancy have been linked to an increased risk of spina bifida in infants, as these drugs may interfere with the body’s ability to utilize folic acid.30

Increased body temperature (hyperthermia) — A meta-analysis published in the journal Epidemiology shows that maternal hyperthermia during the early stages of pregnancy may predispose an infant to NTDs.31

Spina Bifida Symptoms

The symptoms of spina bifida vary significantly depending on the location of the gap in the spine. The common warning signs associated with each type of spina bifida include:

  • Spina bifida occulta — Since the spinal cord and nerves are not damaged with spina bifida occulta, it typically doesn’t produce any visible symptoms. However, there are cases wherein babies born with this condition have an abnormal tuft of hair, a small dimple or a birthmark on the site of the spinal gap.32
  • Meningocele — This form of spina bifida is more serious than SBO but less severe than myelomeningocele. It’s characterized by a fluid-filled sac containing the meninges, which protrudes at the location of the spinal gap. It may or may not be covered by a thin layer of skin. While it usually doesn’t cause nerve damage, there are still cases wherein it may cause minor disabilities.33,34
  • Myelomeningocele — This severe form of spina bifida is also characterized by a fluid-filled sac that protrudes on the site of the spinal gap. However, unlike meningocele, this sac not only holds the meninges, but also the nerves and parts of the spinal cord.

In most cases, the sac is also not covered by a layer of skin — this exposes and eventually damages the nerves and spinal cord, resulting in partial or complete paralysis of the parts of the body below the location of the spinal gap.35,36

Aside from the symptoms mentioned above, the complications caused by spina bifida may also be an indicator of the severity, size and location of the gap in the spine.

Common Complications Caused by Spina Bifida

There are many complications associated with spina bifida, but not all of them are experienced by children with this congenital defect. Some of the most common complications include:37,38

Movement problems — Many children with spina bifida experience weakness or paralysis in their lower limbs. The higher the gap is on the spine, the more likely it is to cause paralysis of the legs. Lack of regular movement also causes the muscles in the legs and back to become weak, which may eventually affect bone development and cause deformed or dislocated joints, scoliosis, and bone fractures.

Bladder and bowel problems — Spina bifida, especially myelomeningocele, may damage the nerves that control the bladder and bowel movement. This complication usually occurs when the gap is located on the lower part of the spinal cord.

Many people who have spina bifida develop urinary incontinence, urinary tract infections, kidney stones, kidney scarring and hydronephrosis, a condition wherein the kidneys become stretched and swollen due to buildup of urine. Bowel incontinence is also a common problem among people with spina bifida, since they can’t control their sphincter muscles properly. This may cause bouts of constipation, followed by periods of diarrhea.

Hydrocephalus — Characterized by an accumulation of fluid in the brain, hydrocephalus is a common complication among babies born with myelomeningocele. This condition may damage the brain and cause learning difficulties like short attention span, difficulty reading and problems with visual and physical coordination.

Skin conditions — Nerve damage may reduce the sensation of the skin on the legs, feet, buttocks and back, making it difficult for people with spina bifida to tell if they have a wound, sore or blister. This could lead to wound infections and ulcers.

Children with spina bifida are also more susceptible to latex allergy, which may cause mild allergic reactions like watery eyes, rashes, itching and runny nose. Latex allergy may also cause life-threatening reactions like anaphylactic shock,39 which results in the swelling of the face and airways, making it difficult for the child to breathe.40 Other complications of spina bifida include shunt malfunction, meningitis, sleep disorders, breathing problems and tethered spinal cord.41

How Is Spina Bifida Diagnosed?

Most cases of spina bifida are diagnosed before birth through prenatal screening tests, which are also aimed to test for other birth defects. However, these tests are not perfect — some babies may test positive for spina bifida but still be born normal, whereas a negative prenatal test result may have missed the presence of an NTD. These tests include:42,43

Maternal serum alpha-fetoprotein (MSAFP) — Usually done during the 16th to 18th week of pregnancy, MSAFP test measures the level of alpha-fetoprotein (AFP) in your blood. AFP is a type of protein produced by your baby, which naturally crosses the placenta and enters your bloodstream in small amounts.

High levels of AFP in your blood may be an indication that your baby has an “open” neural tube defect, like myelomeningocele. However, high AFP levels may also be affected by other factors, including gestational dates and multiple pregnancy. MSAFP does not determine the exact problem of the fetus, which is why it’s usually done along with other prenatal tests.

UltrasoundIf you have high levels of AFP in your bloodstream, your obstetrician may recommend an ultrasound to confirm your gestational age and determine whether there’s more than one baby inside your womb. An advanced ultrasound may also help detect the characteristic features of an open spine or a malformation in the baby’s brain, which may indicate spina bifida.

Amniocentesis — If your AFP level is high but your ultrasound result is normal, your doctor may recommend you to undergo amniocentesis, an exam that involves removing a sample of amniotic fluid using a needle. The sample fluid will then be analyzed to determine the level of AFP present in it. The amniotic fluid normally contains a small amount of AFP.

If an open neural tube defect is present, AFP will leak into the amniotic fluid, causing elevated amounts of it in the fluid sample.

Milder cases of spina bifida that are not diagnosed during the prenatal screening may be detected through postnatal diagnosis. If the doctor suspects that an infant has spina bifida, they may recommend your baby to undergo ultrasound, magnetic resonance imaging (MRI), X-ray or computed tomography (CT) scan to better examine their vertebral column and skull.44

Spina Bifida Treatment Options

There is no cure for spina bifida. If there are nerves that have been damaged due to the gap in the spine, they cannot be repaired or replaced. However, there are treatment plans available that may help reduce the impact of this condition on a child’s quality of life. The methods of treatment involved depend on the type and severity of spina bifida.45

Early Intervention: Spina Bifida Surgery Before or Immediately After Birth

Upon diagnosis of spina bifida, especially myelomeningocele, one of the first treatment options that your doctor may offer is prenatal surgery. This procedure is ideally done before the 26th week of pregnancy, and it involves opening the uterus to repair the fetus’ spinal cord.46 According to a study published in the journal Seminars in Pediatric Surgery, this procedure may help preserve the neurologic function of the fetus, while reducing the risk for hydrocephalus.47

However, fetal surgery can pose significant risks like uterine scar and premature birth, so make sure that you thoroughly discuss its benefits and disadvantages with your doctor.48 This specialized surgery must only be performed by a team of experienced fetal surgery experts.

Most doctors recommend delivering a baby with spina bifida through cesarean section, especially if they detect a large sac on the baby’s back or if the baby is in a breech position, which is quite common for babies with myelomeningocele.49

If prenatal surgery is not feasible, the doctor may recommend your baby to undergo surgery within 48 hours after birth. In this procedure, the neurosurgeon will place the exposed spinal cord and tissue back to their correct place. The opening in the baby’s back is then closed and covered with muscle and skin. Doing this procedure immediately after birth helps reduce the chances of infection and protects the nerves and spinal cord from trauma.50,51

Treatment and Management of Spina Bifida Complications

It’s important for a child with spina bifida to have a treatment plan that helps them manage their complications, allowing them to reach their fullest functionality and achieve independence later in life. The common ways to treat and manage the complications of spina bifida include:52,53,54

Treating hydrocephalus — If an infant with spina bifida has also developed hydrocephalus, they may need to undergo surgery after birth to implant a ventricular shunt.

This procedure allows the excess fluid in the brain to drain into another body part, usually to the abdomen.

It also helps protect the brain against too much pressure. Additional surgery may be necessary later in life if the shunt becomes clogged or infected.

Physiotherapy — It’s important for a child with spina bifida to undergo physiotherapy as they grow up, since it helps ensure proper mobility, inhibit bone deformity and avoid the leg muscles from weakening.

Occupational therapy — This helps patients find ways to perform day-to-day activities despite potential impairments.

An occupational therapist usually recommends the use of adaptive equipment and alternative methods to help a child perform activities much easier.

Mobility aids — Patients with weak leg muscles may use leg braces, splints and other walking aids to maintain mobility, while those who are totally unable to use their legs usually require a wheelchair.

Orthopedic surgery — Corrective orthopedic surgery is recommended for spina bifida patients who also have bone development problems such as clubfoot, scoliosis and hip dislocation.

Bladder management — Urinary incontinence may be treated through urinary catheterization, a procedure that involves inserting a flexible tube in the bladder to allow urine to drain through it into a drainage bag.

Bladder surgery may also be recommended to enlarge the bladder and improve its capacity to hold urine.

There are additional activities that you can do to help improve urinary incontinence, such as doing Kegel exercises, hip and body circles, and side-to-side movements.

Bowel management — Bowel problems, particularly constipation, are common among people with spina bifida.

This condition is usually treated through anal irrigation, a procedure wherein water is pumped into the anus using special equipment to clean out the bowels.

Surgical procedures such as antegrade continence enema (ACE) and colostomy may also be recommended.

To naturally improve bowel movement, it’s important to drink enough water and consume more fiber-rich foods.

How to Prevent Spina Bifida: Lowering Your Baby’s Risk of This Condition

Since folate deficiency plays a very important role in the occurrence of neural tube defects like spina bifida, women who are planning pregnancy are encouraged to take a folate supplement every day for at least one month before conceiving, continuing through the first trimester of pregnancy.55

Most of the folate supplements available today contain the synthetic version of this vitamin, which is known as folic acid. Keep in mind that folate and folic acid are not the same, although they’re often used interchangeably. Folic acid is metabolized differently in the body, and studies have found that excessive amounts of it may increase the risk for colorectal cancer and cardiovascular disease.56

If you want to use folate supplements, consider taking it in the form of L-methylfolate (5-MTHF), which is the biologically active form of this vitamin. Keep in mind that real foods are still the best sources of folate. If you’re planning to conceive soon, make sure that you add these folate-rich foods into your diet:57





Mustard greens

Turnip greens

If you’re diabetic, obese or taking anti-seizure medications, make sure that you talk with your doctor to plan your pregnancy properly and determine the amount of folate supplement that you need to take.58

Spina Bifida Diet: Tips for a Healthy Well-Being

Poor nutrition coupled with reduced activity levels caused by nerve damage may lead to obesity, constipation, drug and nutrient interactions, and other problems, which is why it’s important for people with spina bifida to have healthy eating habits. Here are some general dietary tips that you should keep in mind:59,60,61

  • Increase your fiber intake — As mentioned above, eating fiber-rich foods may help alleviate constipation. The best sources of fiber are fruits and vegetables, including green peas, artichokes, raspberries, collard greens, blackberries, avocados, spinach and Brussels sprouts, to name a few.
  • Avoid unhealthy beverages — Fruit juices and carbonated beverages should be avoided. It’s best to drink adequate amounts of water throughout the day to help alleviate constipation and lower the risk for urinary tract infections (UTI).
  • Eat foods that are rich in calcium — Since spina bifida increases the risk for problems with bone development, it’s important for patients to increase their calcium intake through dietary sources, such as collard greens, broccoli, kale and bok choy.62
  • Increase your levels of vitamin D — Vitamin D also plays a role in bone development, so it’s importance to balance it along with calcium. Some of the good dietary sources of vitamin D include wild-caught Alaskan salmon, sardines and eggs. However, safe sun exposure is the best way to obtain this nutrient.
  • Avoid processed foods — Processed foods such as chips, baked goods and sugary snacks may increase the risk for obesity. Replace them with healthy and organic food choices to avoid excessive weight gain.

No two people with spina bifida are alike, so the diet plan that works for one patient may not work for another. This may also vary according to the person’s age, weight and activity levels,63 so to determine which foods are suitable for you or your loved one, be sure to consult your doctor or dietitian.

Frequently Asked Questions (FAQs) About Spina Bifida

Q: Is spina bifida hereditary?

A. The exact cause of spina bifida is unknown, but inheritance of specific gene mutations is one of the risk factors behind this condition.64 Studies also show that the sibling of a person with spina bifida has a 2 to 5 percent increased risk of developing this defect compared to the general population.65

Q: Is spina bifida caused by genetic factors?

A. Although they are not the only cause of spina bifida, genetics have long been considered as one factor that can contribute to the development of spina bifida.66

Q: How common is spina bifida?

A. According to the Centers for Diseases Control and Prevention, spina bifida affects 1 in every 2,858 babies born in America.67

Q: What is the life expectancy of someone with spina bifida?

A. The life expectancy of spina bifida depends on the type and severity of the condition, as well as the treatment plan used to manage it. According to the Spina Bifida Association, 90 percent of babies born with this condition may live to be adults, 80 percent of whom have normal intelligence; 75 percent are capable of doing sports and other activities.68

Q: Can people with spina bifida have children?

A. Yes, most people with spina bifida are fertile and capable of having children.69

Q: What vitamin helps prevent spina bifida?

A. Maintaining high levels of vitamin B9, also known as folate, a month before conceiving through the first trimester of pregnancy may help reduce the risk of spina bifida in your baby.70

Q: Is spina bifida painful?

A. People with spina bifida may feel acute or chronic pain in different parts of the body. For instance, they may experience headaches due to hydrocephalus or a malfunctioning ventricular shunt. Spine- and spinal cord-related pain may also be felt in the back, neck, arms or legs. Older patients with spina bifida may also experience pain in their joints and muscles.71

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