Spina bifida

Spina bifida is a neural tube defect (NDT) that occurs when your baby’s vertebrae (the bones that make up the spine) don’t completely close around the spinal cord.

When a baby is conceived, cells of the embryo begin to form a structure called the neural tube. By 28 days the neural tube has usually closed and begins to develop into the baby’s brain, spinal cord and surrounding tissues. In spina bifida, part of the neural tube doesn’t close properly. In some cases, muscle and skin can’t form around the opening, causing the meninges (the protective covering around the spinal cord) and spinal cord to form a sac outside of the body.

Spina bifida can me more or less severe and it’s a life-long condition. Treatment is aimed at managing complications, such as leg weakness, reduced bladder and bowel control and learning difficulties, while optimising your child’s quality of life.

The exact cause of spina bifida isn’t known, but low folate levels before pregnancy and a family history of spina bifida increase the risk of your baby being born with the condition.

Folate is an essential vitamin that’s needed for cell growth and reproduction and it’s important for the development of a healthy baby during pregnancy. It’s found naturally in leafy vegetables, citrus fruits, wholemeal bread, yeast, liver and legumes. It’s difficult to get enough folate from natural sources to reduce the risk of spina bifida in your baby if you get pregnant, so supplements are recommended before and after pregnancy (see below).

It’s recommended that women planning a pregnancy should take folic acid before and after conception to reduce the risk of having a baby with a neural tube defect (NTD), such as spina bifida. Folic acid is the artificial form of folate and it’s more easily absorbed and used in the body than naturally occurring folate found in food.

• If you’re at low risk of having a baby with a neural tube defect (NTD), take 800 micrograms of folic acid daily for 4 weeks before and 12 weeks after conception.
• If you’re at higher risk, it’s recommended that you take 5 mg of folic acid daily for 4 weeks before and 12 weeks after conception.

You’re at higher risk if you or your partner have an NTD or there’s a family history of NTD, eg, if you have a child or close family member with an NTD. You also have an increased risk if you have diabetes, or if you’re taking medications (eg, carbamazepine and sodium valproate for epilepsy) that reduce the amount of folate your body absorbs.

Read more about folic acid/folate in pregnancy.

There are 3 types of spina bifida, which vary in severity. 

Spina bifida occulta

Spina bifida occulta is the mildest form of spina bifida.

• Part of the spine is not completely closed.
• The meninges (membrane layers that cover your spinal cord and brain) and spinal cord are not affected.
• The affected area is covered by skin, and often the only sign of the defect is a small patch of hair or dimple over the area.
• It doesn't usually cause any physical problems.
• In most cases no treatment is needed.
• People often don't know they have the condition.

Spina bifida meningocele

Spina bifida meningocele is a moderate form of spina bifida.

• Part of the spine is not completely closed.
• The meninges protrude through the spine and form a sac containing cerebrospinal fluid (fluid that surrounds the spine and brain).
• The spinal cord doesn't protrude through the spine. 
• The sac is usually covered by skin but may need surgery if it's outside the body.

Spina bifida myelomeningocoele

Spina bifida myelomeningocoele is the most severe form of spina bifida.

• Part of the spine is not completely closed.
• Meninges and spinal cord protrude through the spine and form a sac which is visible on the outside of the body.
• The spinal cord hasn't developed properly and spinal nerves can be affected.
• Surgery is needed to repair the defect.

The image below shows the different types.

Image credit: Mirana Gavami via Wikimedia Commons(external link) (labels translated)

The type and severity of complications varies depending on:

• which part of the spine is affected by spina bifida, and
• if other parts of the brain are also affected.

If it happens higher up the spine, more nerves will be affected and cause more complications than if it’s lower down the spine. Common complications include the following.

Leg weakness or paralysis

Children with spina bifida may have leg weakness or paralysis, which means they may not be able to move their leg muscles and may find walking and other movements more difficult.

Changes in skin sensation

People with spina bifida can experience changes or a loss of sensation which means they can have reduced feeling, numbness or tingling – particularly in their legs or feet. This can increase the risk of injuries and sores because they can't feel them.

Hydrocephalus

Hydrocephalus (fluid on the brain) occurs when the drainage of cerebrospinal fluid from the brain is interrupted and causes a build-up of fluid in spaces inside the brain. It’s common in spina bifida myelomeningocoele. It usually appears in the first 10 days after birth, but it may not develop for a few weeks or at all.

Arnold-Chiari malformation

This is most common in myelomeningocele and occurs when the lowest parts of the brain are stretched and sit lower than they should. It can contribute to hydrocephalus and can cause difficulties with swallowing, breathing and/or stiffness of the arms and hands. 

Learning difficulties

Spina bifida can cause learning difficulties in some children, usually those who have been diagnosed with hydrocephalus or Arnold-Chiari malformation. It can affect attention, memory and thinking skills. 

Lack of bladder and bowel control

Damage to the spinal cord means the bladder isn’t able to send the correct messages to the brain. This means people with spina bifida may not have full control of their bladder. They may also experience loss of the sensation that lets them know when their bladder is full. They may also need ongoing management to achieve bowel continence (being able to hold on to their poo until they get to a toilet).

Clubfoot

Clubfoot can affect one or both legs. It’s a birth defect where the foot or feet are turned inwards and face down and the tendons surrounding the foot are tight.

Spina bifida is usually diagnosed before your baby is born, at the 18 to 20 week anatomy scan. Maternal blood tests may also show an increase in alpha-fetoprotein (AFP) during pregnancy.

If spina bifida myelomeningocoele is diagnosed before your baby is born, an elective caesarean section may be recommended to help minimise further spinal cord or spinal nerve damage. 

After birth, your baby will be transferred to a neonatal intensive care unit (NICU) to be closely monitored. The sac that’s outside their body will be kept moist and surgery to close the defect will be done within 24 to 48 hours. Antibiotics may be given to your baby to reduce the chance of meningitis (inflammation of the meninges). A head ultrasound, CT scan, MRI scan and kidney function tests may be needed.

Your baby will need ongoing medical involvement to ensure they have the best possible quality of life and to help manage ongoing issues such as walking, bladder and bowel control and learning difficulties. 

Babies with spina bifida meningocele may also need surgery shortly after birth.

There's no cure for spina bifida so after surgery to close the defect (see above), treatment is focused on managing complications. Some children may need further surgeries throughout their life.

• If hydrocephalus is diagnosed, a ventriculoperitoneal (VP) shunt is surgically inserted to help drain the fluid from around your baby's brain into the abdomen.
• A physiotherapist will be involved in your child’s care. Use of walking aids (eg, crutches, walking frame), splints for legs or feet, or a wheelchair can help them move around more easily.
• Care is needed to make sure your child’s skin stays healthy as they may not be able to feel pressure on their legs and feet or feel when they have hurt or cut themselves. You may need to check their skin regularly for any sores or injuries. 
• You may need to use a catheter to empty your child's bladder to avoid urinary tract infections (UTIs) or kidney problems.
• Your child may have a toileting programme and be taught specific toileting techniques such as sitting on the toilet the same time every day to avoid constipation (difficulty passing hard poo). As bowel continence can be a problem, your child will be taught ways to manage this, including the use of medicine.

Many health professionals will be involved in your child’s care, so you won't be alone in your journey. They will help you manage any problems your child has in order to minimise the impact on their daily life.

Like many other long-term conditions, spina bifida creates challenges in daily life. However, people with spina bifida can and do live normal and fulfilling lives. They are not defined by their condition. They attend school and university, make friends, form lasting relationships, play sports and other fun activities and contribute to society. Many people now refer to the ‘F-words for Child Development’ which are Functioning, Family, Fitness, Fun, Friends, and Future when considering what's important for children and whānau living with these and other conditions. Read more about the F-words for Child Development(external link). 

The Spina Bifida Association of New Zealand(external link) is a charity that supports parents expecting a baby diagnosed with spina bifida and parents of children, young adults and adults living with spina bifida. 

Parent2parent(external link) is a New Zealand organisation that supports families living with a disability. 

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