Neural tube defects

The neural tube will become your baby's brain (Opens in new tab) and spinal cord. It forms early in your pregnancy when cells fuse together to create a tube-shaped structure. This happens in the first 4 weeks of pregnancy, often before you know you are pregnant. 

Neural tube defects happen when the neural tube does not fully fuse (close), causing problems with your baby's spinal cord and brain.

Neural tube defects include:

• Anencephaly — this happens when parts of the brain, skull and scalp don’t develop. Anencephaly is a serious birth defect. Some babies with anencephaly die before or soon after birth.
• Encephalocele — this is when the skull doesn’t develop properly, causing the brain or its covering membranes to bulge out.
• Spina bifida — this is when the lower parts of the neural tube don’t fully close, which affects the development of the spine. The vertebrae (bones of the spine) that cover the spinal cord don’t develop properly. This causes the nerve tissues to be exposed and not fully protected. People with spina bifida have nerve damage, which can be mild or severe.

Read more about spina bifida.

The cause of neural tube defects is not fully known. There are many genetic and environmental factors that can increase the chance of your baby developing one, such as:

• not having enough folic acid in your diet in early pregnancy
• some medicines, such as epilepsy medicines
• having insulin-dependent diabetes
• a family history of neural tube defects
• a previous pregnancy affected by a neural tube defect

Neural tube defects are usually diagnosed during the second trimester of your pregnancy. Screening tests are used for diagnosis:

• Maternal serum screening test— you will be offered a blood test during weeks 14 to 20. This blood test (Opens in new tab) estimates the chance your baby may have a neural tube defect. This blood test can't diagnose your baby with a neural tube defect. If the results suggest your baby is at high risk, your midwife or doctor may recommend you have more tests.
• Ultrasound screening — your midwife or doctor will offer you an ultrasound around weeks 18 to 20. Ultrasounds are used to track your baby's growth and development and can diagnose most cases of neural tube defects.

If a neural tube defect is very mild, it may only be found and diagnosed after your baby is born.

If your baby is diagnosed with a neural tube defect during pregnancy, you will be referred to a specialised medical team for more tests, information and counselling.

Your healthcare professionals can explain to you how the neural tube defects may affect your baby and what treatment options are available.

Children with neural tube defects often need ongoing support and treatment as they grow. They will need different kinds of support at different stages of growth and development. How much help your child will need will depend on how serious their condition is.

Children with neural tube defects will usually have problems with their brain and spinal cord. Some problems they can have include:

• physical disability, for example, difficulties with movement
• toileting challenges, for example, not being able to control their bladder and bowel
• difficulties with hearing and vision
• intellectual disability
• differences in physical appearance

Finding out that your baby has a neural tube defect can bring up many different emotions such as:

• shock
• sadness
• confusion
• uncertainty

People and families can have different values, beliefs and priorities when thinking about what this diagnosis will mean for them. You and your partner may want to talk with the medical team about your options, including whether to continue with your pregnancy. Your healthcare team are there to support you and give you information to help you make decisions that feel right for you.

You can significantly reduce the chances of your baby having a neural tube defect by having enough folic acid (also known as folate or vitamin B9) before and during your pregnancy.

Folic acid supplements can reduce the risk of your baby developing a neural tube defect by 70%.

You can buy folic acid supplements in tablet form at your local:

• health food shop
• pharmacy (Opens in new tab) 
• supermarket

Folate is also naturally found in:

• green leafy vegetables
• some fruits
• some legumes — beans, peas, lentils
• wholegrain breads
• cereals

Not everyone plans a pregnancy or knows that they are pregnant in the early weeks, when the neural tube is forming. Because of this, some pregnant women may not have started taking folic acid supplements before they are pregnant or early in their pregnancy. This is why folate is added to all flour used to make bread and other foods in Australia.

Speak to your midwife or doctor for more information about folate supplements. 

Read more on folate and pregnancy.

How much folic acid do I need?

The amount of folic acid you need depends on your situation:

• Adults should have at least 0.4mg of folic acid every day.
• If you're planning a pregnancy and for the first 3 months of your pregnancy, you should take an extra folic acid supplement of 0.5mg daily.
• If you are at a higher risk of having a baby with a neural tube defect, it's recommended to take a higher dose supplement (5mg).

Your healthcare professional or dietitian can tell you if you’re getting enough folate, and if you are in a high-risk group.

If you are pregnant and are feeling stressed or want support during your pregnancy, PANDA (Opens in new tab) has resources and support to help you.

Learn more about eating folate when you are planning a pregnancy or already pregnant at Healthy Western Australia's Folate and pregnancy (Opens in new tab) page.

NSW Health has a helpful guide to pregnancy supplements (Opens in new tab).

If you are concerned about the costs of caring for a child with disability, there's support and funding available to help you. Services Australia has more information about caring for a child with disability (Opens in new tab).

Information for Aboriginal and/or Torres Strait Islander peoples

Family Planning Australia has more information about pregnancy options (Opens in new tab).

First Peoples Disability Network has resources about raising a child with a disability (Opens in new tab).