What is spina bifida?

Spina bifida is a type of neural tube defect (NTD). It happens when your baby's spine and spinal cord do not develop properly during the first month of pregnancy.

The spine and brain start to grow from a tube-shaped structure called the neural tube. If it doesn't close all the way along the spine, it leaves a gap. This gap is called spina bifida.

Spina bifida leads to different health problems depending on how serious it is.

What are the different types of spina bifida?

Spina bifida occulta is the mildest and most common type of spina bifida. A small part of the spinal bones (vertebrae) doesn't form properly, leaving a small gap between them. Many people don't know they have it — that's why it's called 'occulta', which means hidden. There is no opening in the baby's back.

Meningocele is when a sac of fluid bulges out through the gap between the spinal bones. The sac doesn't contain the spinal cord, so it usually doesn't cause nerve damage. It can lead to mild disabilities.

Myelomeningocele is the most serious type of spina bifida. A sac of fluid bulges out through an opening in the spine. The sac contains parts of the spinal cord or nerves and may be covered with the meninges (membranes that cover the spinal cord). This type of spina bifida can lead to moderate to severe disabilities.

What are the symptoms of spina bifida?

The signs and symptoms of spina bifida depend on the type and how serious it is.

Spina bifida occulta usually doesn't cause any symptoms. There is no visible opening in your baby's back. On the skin above the affected area of the back, you may see a:

• tuft of hair
• small dimple
• birthmark

Meningocele and myelomeningocele can be seen as a bulge on your baby's back if they haven't had surgery yet.

What are the causes of spina bifida?

There's no single cause of spina bifida. It's likely caused by a mix of genetics and other factors, such as your diet.

You may have a higher chance of having a baby with spina bifida if:

• you don't get enough folate in your diet
• you take certain medicines during pregnancy
• you have diabetes and need insulin
• you've had a baby with spina bifida or another neural tube defect
• someone in your family has spina bifida

When should I see my doctor?

If spina bifida is found during pregnancy, it's important to see a specialist early. Planning the birth at a hospital with experience in spina bifida care can help your baby get the right support.

People living with spina bifida should see their doctor regularly for check-ups. This helps prevent complications and helps track your child's development, including their:

• growth
• movement and mobility
• bladder and bowel control
• thinking and learning (cognitive development)

When to seek urgent care

See a doctor straight away if you notice:

• changes in bladder or bowel habits
• redness, swelling or leaking near the surgical site on the back
• new or worse weakness or problems with movement

See a doctor or call an ambulance straight away if your child shows signs of Chiari malformation (when parts of the brain are being pushed down into the spinal canal). These signs may include:

• drooping eyelids
• difficulty moving their eyes
• sleep apnoea (stopping breathing for short periods during sleep)
• dysphagia (difficulty swallowing)

If your child has a shunt (a thin tube that drains extra fluid from the brain), watch for signs it might not be working, such as:

• seizures
• headache
• vomiting
• sleepiness
• irritability

How is spina bifida diagnosed?

Spina bifida is diagnosed during pregnancy with blood tests and ultrasounds. Your doctor may also ask questions about:

• your family health history
• past pregnancy loss
• any medicines you take

Second trimester screening

During pregnancy, your doctor may suggest a second trimester maternal serum screen (MSS). This is a blood test that checks the levels of certain proteins, such as alpha-fetoprotein. High levels may suggest a neural tube defect, such as spina bifida.

An ultrasound scan is done to check your baby's spine more closely. If there's a family history of spina bifida, your doctor may suggest an earlier ultrasound in the first trimester.

Follow-up

If the results show a higher chance of spina bifida, your doctor may suggest other tests, such as amniocentesis. This test checks for chromosome differences.

Your doctor will explain what the results mean and what your choices are. They can also refer you to specialist counselling and give you helpful information and advice.

How is spina bifida treated?

There's no cure for spina bifida. Treatment can help manage your child's symptoms and improve their quality of life. Treatment depends on how severe it is and how it affects your child.

A team of doctors and allied healthcare professionals will work together to support your child's care. Your child's care team may include:

• neurologists or neurosurgeons (for brain and nerve care)
• urologists (for bladder and kidney health)
• orthopaedic doctors (for bones and joints)
• physiotherapists and occupational therapists (for movement)
• rehabilitation specialists

Surgery

If severe spina bifida is diagnosed in early pregnancy, surgery might be done before birth. This can help protect the spinal cord.

If your health team suggests waiting until after your baby is born, it usually happens within the first 48 to 72 hours after birth. This may help reduce the chance of infection and more damage to the spinal cord.

Some babies with spina bifida also have hydrocephalus (extra fluid around the brain). They may need surgery to place a thin tube (called a shunt) that drains the fluid and relieves pressure.

Support for mobility

People living with spina bifida might need help with walking and moving around. This support depends on how their mobility is affected.

Common types of mobility aids include:

• limb splints or braces
• crutches
• a wheelchair

Physiotherapists and other experts can support you or your child to maximise movement and strength.

Bladder and kidney care

Spina bifida can affect bladder and bowel control. Treatment aims to help:

• with incontinence
• prevent urinary tract infections
• prevent kidney damage

Support for learning and development

Some children with spina bifida may find learning more difficult. Support can help your child with learning new skills, handling new tasks and problem-solving.

Living with spina bifida

Living with spina bifida can be different for everyone. Things that can affect quality of life may include:

• how well they can move around
• their bladder or bowel control
• other conditions, such as hydrocephalus

Having a care team with different health professionals can help manage the condition better throughout childhood and adulthood. This kind of support helps people stay healthy, independent and confident.

What are the complications of spina bifida?

Spina bifida can lead to health problems, including:

• muscle weakness, loss of feeling or paralysis in the legs, hips or feet — this can affect movement and walking
• bladder and bowel problems, such as incontinence, urinary tract infections or kidney problems
• learning difficulties that may affect school or everyday tasks
• changes in the shape of the spine, such as scoliosis
• problems with sexual function
• Chiari malformation
• hydrocephalus

Can spina bifida be prevented?

You can lower your baby's chance of developing spina bifida by getting enough folate in your diet. It's important to take a folic acid supplement for at least one month before getting pregnant and for the first 3 months of pregnancy.

Folate is found in:

• green leafy vegetables
• nuts
• legumes (such as chickpeas, dried beans and peas)
• fortified foods (foods with added folic acid), such as some breakfast cereals, breads and juices

If you take anti-seizure medicines, acne medicines or other regular medicines, talk to your doctor before starting folic acid supplements. This can help you plan safely for pregnancy.

Resources and support

• Visit Pregnancy, Birth and Baby's page on spina bifida for more information. Call Pregnancy, Birth and Baby to speak with a maternal child health nurse on 1800 882 436 or video call. Available from 7 am to midnight (AET), 7 days a week (including public holidays).
• Sydney Children's Hospital Network offers support and information if you are expecting or have a baby with spina bifida.
• ConnectAbility Australia offers support, treatment and information about spina bifida.

You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak with you 24 hours a day, 7 days a week.

Languages other than English

The Sydney Children's Hospital Network offers translated fact sheets in Arabic on topics including:

• spina bifida
• spina bifida and bladder management
• spina bifida and bowel management
• hydrocephalus and spina bifida