Neural tube defects: spina bifida, encephalocele & anencephaly

What are neural tube defects?

The neural tube is a structure that unborn babies develop in the first month of pregnancy. This structure eventually develops into the brain, spinal cord and spine.

When the neural tube doesn’t form properly, it’s called a neural tube defect. Any part of the tube can be affected.

The most common neural tube defects are:

spina bifida
encephalocele
anencephaly.

Experts don’t really know why neural tube defects happen. They do know that genes and not enough folate before and during pregnancy are factors. The use of some antiepileptic medicines in pregnancy has also been linked.

Spina bifida

Spina bifida happens when lower parts of the neural tube don’t close properly during a baby’s development in the womb. This leaves part of the spinal cord exposed and easily damaged.

In severe cases of spina bifida, the skin, muscle and bones protecting the spinal cord nerves might all be missing.

Children with spina bifida can have trouble walking. They can have muscle weakness and loss of feeling in affected areas. They can also have problems with fluid pressure on the brain and control of their bladders and bowels. They can have difficulty with learning, attention and memory.

Encephalocele

Encephalocele happens when the skull doesn’t form properly to protect the brain. Part of the brain might bulge out. This is because the top of the neural tube hasn’t formed properly.

Babies with severe encephalocele might not survive beyond the first day of life.

Children with mild forms of encephalocele might have intellectual disability, cerebral palsy, seizures or other difficulties.

Anencephaly

Anencephaly is a very serious neural tube defect. It happens when part of the brain doesn’t develop because of a defect in the top part of the neural tube. Babies with anencephaly are usually stillborn or die shortly after birth.

How to prevent neural tube defects: folate and folic acid in pregnancy

If you get enough folate before and during pregnancy, it can help to prevent many neural tube defects. Folate is essential to the development of the brain, spine and nerves. Folate is safe. It’s present in our diet, especially in green leafy vegetables, liver and wholegrain cereals.

Folate is a vitamin. It’s called ‘folic acid’ when it’s added to foods or made into tablets.

You can reduce the risk of having a baby with neural tube defects by taking folic acid supplements at least 1 month before pregnancy and then in the first 3 months of pregnancy.

Doctors say that you should start taking folic acid as soon as you decide to try getting pregnant. This is because your baby’s spine and brain have already started developing by the time you find out you’re pregnant.

The recommended dose before and during pregnancy is 400 µg of folic acid a day. Some people have a higher risk of having a baby with a neural tube defect. This includes people with a family history of neural tube defects. If you’re at higher risk, you’ll need to take a higher dose of folic acid. Your doctor will let you know what you need.

Diagnosis of neural tube defects

Most neural tube defects are picked up at the 20-week ultrasound scan.

But mild cases of spina bifida can be hard to pick up and might be diagnosed only after birth. In these cases, key physical features of the condition help doctors make a diagnosis.

Treatment, therapies and supports for children with neural tube defects

Neural tube defects can’t be cured. But children with neural tube defects can have treatment and support, which helps them to manage their conditions and improves their quality of life.

Treatment for neural tube defects depends on the conditions and symptoms children have. For example, children with spina bifida might be able to have surgery to repair the opening in the spine. Babies with encephalocele always need surgery to repair the opening in the skull.

Children and teenagers with spina bifida and encephalocele often need a lot of other treatment and support. This might include physiotherapy, wheelchairs or braces, or tubes (called catheters) to help empty their bladders.

Many people with spina bifida and milder forms of encephalocele live active, independent lives, although they face challenges at times.

If your child has a neural tube defect, it’s easy to get caught up in supporting their needs. But it’s important to look after your own wellbeing and get support for yourself too. If you’re physically and mentally well, you’ll be better able to care for your child.

People who can help children with neural tube defects

If your child has a neural tube defect, you and your child might work with some of or all the following professionals:

The National Disability Insurance Scheme (NDIS) might support your child with a neural tube defect, as well as you and your family. Our guide has answers to your questions about the NDIS.