What is spina bifida?

Spina bifida occurs when the spine does not form properly early in pregnancy (before the sixth week). It occurs in South Africa in probably about 1 in every 500 to 800 births, five times more than in western Europe. There are different forms, namely spina bifida occulta, where the opening in the spine is covered with skin, and spina bifida aperta, where the spine is actually open. In the latter, there is often a bump of spinal cord and nerve tissue, called a meningomyelocoele. If there are only bulging membranes, it is called a meningocoele. Spina bifida aperta is usually associated with displacement of the cerebellum (hindbrain). It can also lead to accumulation of fluid in the brain ventricles, called hydrocephalus.

What causes spina bifida?

The exact cause is not known. There are several factors play a role, such as folic acid (a vitamin) intake and genetic factors. Once someone has had a child with spina bifida, there is a small increase in the risk in a subsequent pregnancy. A higher dose of folic acid (5 mg instead of 0.4 mg daily) is therefore recommended before a subsequent pregnancy. If several individuals in your family has spina bifida, or you want to know more about heredity factors, you can be referred to a genetic specialist (clinical geneticist).

What does it mean for my child?

Every person with spina bifida is unique. There is a great variety of possible effects, from very mild to very severe. As a general rule, the higher the defect in the spine leads, the worse the consequences. We can determine the height of the defect in the spinal column accurately with ultrasound  during pregnancy, but it is impossible to predict from which height neurological function will be impaired.
Sometimes there are other abnormalities in addition to the spina bifida visible on ultrasound. Because of the increased risk of an underlying syndrome, and we would recommend an amniocentesis to rule out chromosomal abnormalities. The prognosis would then depends on the combination of problems. In this information, we concentrated on the consequences of an isolated spina bifida, without other conditions.

Motor and sensory disorders and orthopedic problems

With spina bifida, the nerves in the spinal cord are usually completely or partially disrupted at the level of the defect. Because of this, the muscles lower down are not directed properly, leading to problems such as muscle weakness, spasticity, imbalance and joint contractures. This can lead to club feet or scoliosis. It may lead to a stiff gait, or it might be impossible to walk, stand or even sit independently.
Certain parts of the body can also numb, leading to pressure sores, or the feet and lower legs may feel cold.

Brain Problems

Displacement of the cerebellum (hindbrain) can lead to loss of strength in the limbs, headache or even trouble breathing. Often, hydrocephalus develops due to impeded drainage of cerebrospinal fluid. To relieve this, it may be necessary to insert a drain. Hydrocephalus can also lead to impeded mental development. Two thirds of children with spina bifida, however, have an IQ above 80. There is also an increased risk of epilepsy, which usually can be treated with medication.

Bladder and bowel problems

There are often problems with bladder control, which can lead to incontinence or kidney infections. It may be necessary to empty the bladder with a catheter. Children can learn to do this independently from an early age, though.
There is also often no control over the bowel movements, with problems such as faecal incontinence or constipation. This can be managed by means of daily enemas.

Hormonal problems

Children with spina bifida often have stunted growth. Early puberty is more common, especially in children with hydrocephalus.

Psychosocial and sexual problems

Young adults with spina bifida assess their own happiness as very similar to their peers. There are more in sexual problems, though, and men with spina bifida may have reduced fertility.

What happens during the pregnancy and after delivery?

Many women decide on a pregnancy termination. If you opt to continue the pregnancy, we will monitor your baby with ultrasound to see if hydrocephalus develops. This may be a reason to deliver the baby earlier. The delivery should preferably be done in a center where the operation for spina bifida can be done. Spina bifida is not in itself a reason for a caesarean section.
Once the baby is born, it will be evaluated by different specialists and further tests such as an MRI may be done. An operation by a pediatric surgeon would take about three hours. After the operation, regular ultrasound examination will be done to see if a drain needs to be placed to treat hydrocephalus.

Can the operation be done during pregnancy?

A large study had been done in the United States, the so-called “MOMS trial”, to answer this question.  The results were published in 2011. The main results were that the 80 children who underwent surgery during pregnancy, less likely to need drain for hydrocephalus, and slightly better motor function at the age of 30 months. The disadvantages were more frequent preterm labor, premature rupture of membranes and decreased amniotic fluid. An operation for “tethered cord” (an adhesion of the spinal cord in the spinal canal) was also more commonly needed. After surgery during pregnancy, a cesarean should always be done, also in future pregnancies. Surgery during pregnancy is therefore unfortunately no cure, and it is unclear whether the advantages outweigh the disadvantages.  It is not available in South Africa (yet), although more centers in North America and Europe have are offering this option.

What now?

If you have more questions, please contact us for further information.