A closer look at neural tube defects

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  • Anencephaly occurs in 40% of cases and is the most serious of all NTDs and always results in a stillbirth or early death of the baby. It is also one of the most obvious in terms of physical appearance. The baby’s head may be seriously malformed because brain is under-developed.
  • Encephalocoele occurs in 10% of the cases when the skull fails to close properly on the midline, anywhere from between the eyes to the back of the head. The result is that there is often a ‘sac-like’ protrusion coming from that area that may simply be filled with fluid, or sometimes can contain some brain tissue.
  • Spina bifida occurs in 50% of the cases when the bones and vertebra do not close properly on the spine and it can occur anywhere along the length of the spine. The condition is further broken down into three different forms:
  • Meningomyelocoele is the most severe form where nerves and spinal cord tissue are actually pushed out through the opening. There is typically nerve damage and abnormalities as a result.
  • Meningocoele is less severe and only the tissue covering the spinal cord (called meninges) is pushed through the opening, creating a sac that is filled with cerebrospinal fluid. There is no spinal or nerve damage at all.
  • Spina bifida occulta is the least severe form of all three and there is nothing pushed through the opening. A simple dimple or even a patch of hair or dark birthmark may point out the opening below the skin.
For more information or support call the Southern African Inherited Disorders Association (SAIDA) on (011) 489 9213 or visit www.saida.org.za

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