What is a neural tube defect?

At a mere month into life your foetus could develop a potentially life-threatening, and a certainly life-changing, condition. It is called a Neural Tube Defect (NTD) and Dr Engela Honey, genetic counsellor at the University of Pretoria says, ‘NTDs are caused by a failure of the neural tube to close properly during early foetal development.’

She goes onto to explain that NTDs result in 3 conditions - anencephaly, encephalocoele and spina bifida – which range in severity and are regarded as multi-factorial defects, meaning that they are caused by both environment and genetics.

What is a neural tube?

The neural tube is destined to develop into a baby’s entire spinal column and cord, nerves, brain and skull. ‘When it doesn’t close at the head end, the defect results in anencephaly or encephalocoele, and when it doesn’t close on lower down on the spine, it results in spina bifida,’ explains Dr Honey.

What causes a NTD and can it be prevented?

‘The development of the neural tube, including its closure, is under the control of several genes working together with environmental factors,’ explains Dr Honey.

There is a lot that a mother-to-be can do to reduce the risk of NTDs. Taking folic acid for 3 months pre-conception and 3 months post-conception can reduce the risk of NTDs by 50%, says Dr Honey.

It is also best to avoiding teratogens (agents that disturb the development of the embryo) such as alcohol and certain medications (especially those used to treat epilepsy), as advised by your doctor.   
In terms of genetics, NTDs can be caused by various chromosomal abnormalities or single gene defects. This is not under anyone’s control. Screening at 18-23 weeks gestation, through ultrasound or blood tests can detect if there is a risk of NTD.

Once a prenatal diagnosis of NTD is confirmed, parents are sent for genetic counselling and then left to make a decision as to whether to continue the pregnancy or not.
How common are NTDs?

NTDs happen in every country and culture across the world, but their prevalence is dependent on area, ethnicity and socio-economic status. ‘The incidence of NTDs in industrialised countries is 1:1000 births,’ says Dr Honey.

‘In South Africa our urban areas are in line with this trend, while our rural areas are much more seriously affected with a rate of 6.1:1000, and the Eastern Cape Province has a rate of 3.6:1000. The reasons for these increases are not yet known.’

The survival rate of babies born with NTDs in our rural areas is very low. In the Limpopo Province research has shown that only 10% of children with NTDs survive beyond their second birthday.


NTDs differ in severity, and while it is a serious condition that may result in death or severe disability, it may also be treatable, and a baby born with this condition can go on to to live a full and rewarding life.

In some more severe cases, where life is not possible, palliative (hospice) care will be offered to the baby through warmth, feeds when hungry, and parental support. In less severe cases a collaboration of surgery, medication, and an early intervention strategy is adopted.

One such place, offering support for all children who have special needs, is called The Sunshine Centre, a local NGO that offers a special programme called START (Strive Towards Achieving Results Together).

Parents are offered genetic counselling – an important process in which they are given more information about the condition that their baby is born with, what caused it, complications that may arise, how to manage their child’s future, and what their risks are of having another child with the same condition.

For more information or support call the Southern African Inherited Disorders Association (SAIDA) on (011) 489 9213 or visit www.saida.org.za

Find out more about neural tube defects.

Share your experiences of having a child with a neural tube defect, or living with one yourself. Comment below or mail toChatback@parent24.com0

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