Spina bifida

The exact cause is unknown. Low folate levels before pregnancy and a family history of spina bifida increase your risk.

When a baby is conceived, embryonic cells begin to form the neural tube. By 28 days this neural tube has closed and begins to develop into the baby’s brain, spinal cord and surrounding tissues. In spina bifida, part of the neural tube fails to close properly. In some cases, muscle and skin cannot 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.

Health New Zealand | Te Whatu Ora(external link) recommends women who are at a low risk of having a baby with a neural tube defect (NTD) take 800 micrograms of folic acid daily for four weeks before and 12 weeks after conception. If you are higher risk, taking 5 mg daily for four weeks before and 12 weeks after conception is recommended. Read more about folic acid/folate in pregnancy.

You are more at risk if you or your partner have a neural tube defect or there is a family history, for example, if you have a relative with a neural tube defect. You also have an increased risk if you are taking medications that reduce the amount of folate your body absorbs. These include:

• insulin to manage diabetes
• anticonvulsant medication, e.g. carbamazepine and sodium valproate
• infertility treatment
• medications containing vitamin A.

There are three types of spina bifida, each varying in severity. From mildest to severist these are:

• spina bifida occulta
• spina bifida meningocoele
• spina bifida myelomeningocoele.

Spina bifida occulta

Spina bifida occulta is a mild form of spina bifida.

• Part of the spine is not completely closed.
• Meninges and spinal cord are not affected.
• The 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 usually causes no physical problems.
• No treatment is needed.
• Often people are unaware 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.
• Meninges protrude through the spine and form a sac containing cerebrospinal fluid (fluid that surrounds the spine and brain).
• Spinal cord is not affected.
• The sac is usually covered by skin but may need surgery if it is outside the body.

Spina bifida myelomeningocoele

Spina bifida myelomeningocoele is the most common and 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 has not developed properly and spinal nerves can be affected.
• Surgery is needed to repair the defect.

The type and severity of complications varies and depends on where on the spine the defect is. If the defect is higher up the spine, more nerves will be affected and cause more complications than if the defect is lower down the spine. Common complications are below.

Leg weakness or paralysis

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

Hydrocephalus

Hydrocephalus (fluid on the brain) occurs when the drainage of cerebrospinal fluid from the brain is interrupted. It is common in spina bifida myelomeningocoele. It usually appears in the first 10 days after birth but it may not develop for a few weeks and in some cases it doesn’t develop at all. 

Learning difficulties

Spina bifida can cause learning difficulties in some people, usually those who have been diagnosed with hydrocephalus. It can impact on attention, memory and organisational skills. 

Lack of bladder and bowel control

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

Changes in skin sensation

People with spina bifida can experience changes or a loss of sensation in the skin below the level of the defect.

Clubfoot

Clubfoot can affect one or both legs.  It is a birth defect in which 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, during the 18–20 week anatomy scan. Maternal blood tests may also show an increase in alpha-fetoprotein (AFP) during pregnancy.

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

Once your baby is born, they will be transferred to a neonatal intensive care unit (NICU) to be closely monitored. The sac that is outside their body will be kept moist, and surgery to close the defect will be done within 24–48 hours. Antibiotics may be given to reduce the chance of meningitis (inflammation of the meninges). A cranial ultrasound, CT, MRI 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. 

There is no cure for spina bifida so treatment is focused around managing complications.

• If hydrocephalus is diagnosed, a ventriculoperitoneal (VP) shunt is inserted to help drain the fluid from around the brain into the abdomen.
• A physiotherapist will be involved in your child’s care. Use of walking aids such as crutches and a wheelchair can help.
• 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.
• Using a catheter to empty their bladder may be needed to avoid urinary tract infections (UTIs) or kidney problems.
• Your child may be taught specific toileting techniques such as sitting on the toilet the same time every day to avoid constipation. As bowel continence can be a problem, your child will be taught ways to manage this.

Many healthcare professionals will be involved in your child’s care, so you will not 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.

Apps reviewed by Healthify

You may find it useful to look at some Pregnancy apps.

Like many other chronic 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 and contribute to society.

The Spina Bifida Association of New Zealand 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. Spina Bifida Association of NZ(external link) (facebook group)

Parent2Parent is a New Zealand organisation that supports families living with a disability. Parent2parent(external link)