Spina bifida is one of a class of birth defects called neural tube defects. These defects involve damage to the spine and spinal cord. Some vertebrae of the spine don't close properly during pregnancy and the spinal cord's nerves are exposed and damaged. The vitamin folate (folic acid) can prevent up to 70 per cent of spina bifida cases, if taken daily one month before conception and daily during the first three months of pregnancy.
Spina bifida is Latin for ‘split spine’. It is one of a class of serious birth defects called neural tube defects (NTDs) which involves damage to the bony spine and the nervous tissue of the spinal cord.
Some vertebrae of the spine don’t close properly during development and the spinal cord’s nerves don’t develop normally. They are exposed and can be subjected to further damage.
At birth, nerves protrude through the gap in the spine instead of growing down the bony spinal column. Nerve signals to most parts of the body located below the level of the defect are damaged and a wide range of muscles, organs and bodily functions are affected.
Pregnant woman or women planning to become pregnant should take folate regularly to reduce the risk of the fetus developing spina bifida.
Most cases of spina bifida are detected before birth. Spina bifida cannot be cured, but a range of treatments and management options is available.
The other main type of neural tube defect is anencephaly, in which the brain and skull don’t develop properly. All babies with anencephaly will either be stillborn or die soon after birth.
Diagnosis of spina bifida
Well over 90 per cent of cases of spina bifida are detected with an ultrasound at 18 weeks into pregnancy. If spina bifida is present, specialist gynaecological care will be provided until birth.
Other tests used to diagnose spina bifida are:
- Alpha-fetoprotein (AFP) testing
- Magnetic resonance imaging (MRI) scans
- Computed tomography (CT) scans.
Spina bifida is sometimes detected at birth when a large soft lump or lesion on the baby’s back is noticed. This lump contains spinal cord nerves and tissue. Exposed nerves must be surgically moved under the skin within 24 hours.
Symptoms of spina bifida
The effects of spina bifida vary according to the type, location and severity of the condition. Generally, defects higher on the spine produce a greater risk of paralysis and other debilitating complications.
Problems associated with spina bifida include:
- Reduced sensation in the lower body, legs and feet, leading to to the possibility of burns and pressure sores
- A degree of paralysis of the lower body and legs, causing walking difficulties or inability to walk
- Degrees and types of urinary incontinence
- Degrees and types of faecal bowel incontinence
- Some sexual dysfunction, particularly related to penile erection and ejaculation
- Learning difficulties
- Abnormal joints
- Deformities of the spine – commonly scoliosis, where the spine bends into an ‘S’ shape
- Cord tethering, where the spinal cord ‘sticks’ to the area of the original lesion and becomes stretched
- Arnold Chiari malformation and hydrocephalus.
Spina bifida and hydrocephalus
The brain and spinal cord are bathed in and nourished by cerebrospinal fluid. Most people with spina bifida have the Arnold Chiari malformation (the brain stem physically ‘jams into’ the spinal cord), and consequently experience a build-up of cerebrospinal fluid inside the skull.
Hydrocephalus must be managed early with a shunt, or brain damage will occur when after the skull bones have fused and the baby’s head stops growing. This abnormality may cause many different brain function disabilities.
Risk of spina bifida
Spina bifida is caused by genetic and environmental factors which are not yet fully understood. The risk of spina bifida is approximately one in every 1,000 pregnancies.
Inadequate intake of folate by the mother in early pregnancy is a significant factor in the occurrence of spina bifida. The number of babies born with spina bifida in Australia has dropped dramatically in recent years due to greater awareness and intake of folate by pregnant women.
Improved ultrasound and other tests which detect spina bifida and provide the choice of pregnancy termination have also reduced its occurrence.
People whose children are at high risk of spina bifida include those who have a:
- Previous child with a neural tube defect (NTD)
- Family history of NTDs on one or both sides
- Close relative with an NTD
- Close relative with a child with an NTD.
The children of women taking some anti-epileptic medications (such as valproic acid) also have an increased risk of spina bifida.
Folate can prevent spina bifida
Folate (folic acid) is a B-group vitamin. The recommended dose of folate, taken daily one month before conception and each day during the first three months of pregnancy, can prevent up to 70 per cent of neural tube defects.
The National Health and Medical Research Council recommends that all women planning a pregnancy or likely to become pregnant should take 0.5 mg of folic acid daily. People in high-risk groups should take a higher dose.
Good sources of folate include:
- Folate supplements
- Foods naturally rich in folate – asparagus, spinach, oranges, bananas and legumes
- Foods fortified with folate, such as some breakfast cereals and bread. Look for the ANZFA Folate Enriched logo on the packet.
Treatment for spina bifida
There is no cure for spina bifida. Treatment options include:
- Surgery – may be used to close the lesion and reduce the risk of infection
- Shunt insertion – hydrocephalus is treated with the insertion of a tube, called a shunt, into the ventricles in the brain where the spinal fluid is produced, allowing excess cerebrospinal fluid to drain out of the brain via another tube into the abdomen or the heart
- Orthopaedic surgery – children with spina bifida usually undergo operations on their legs and feet to improve their mobility
- Mobility aids – walking aids or wheelchairs are commonly used
- Diet and enemas – used to manage faecal incontinence
- Bladder surgery – to increase bladder size and tighten muscles
- Self-catheterisation and continence pads – may be required to manage urinary incontinence. Sometimes faecal or urinary bags are necessary
- Regular monitoring of kidney, bladder, shunt and spine functions.
Where to get help
- Your doctor
- Spina Bifida Clinic at the Royal Children’s Hospital Tel. (03) 9345 5898
Things to remember
- Spina bifida refers to a range of birth defects that affect the spinal cord.
- In spina bifida some vertebrae of the spine aren’t closed, leaving the spinal cord nerves exposed and damaged.
- The recommended dose of folate, taken daily one month before conception and during the first three months of pregnancy, will greatly reduce your chances of having a child with a neural tube defect.
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This page has been produced in consultation with and approved by:
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Spina Bifida Foundation of Victoria
Last reviewed: April 2013
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