What is an encephalocele?
An encephalocele is a rare condition where part of the baby’s brain and fluid-filled sac pushes out through a gap in the skull. It can happen at the back, top, or front of the head and may be covered by skin or exposed.
It is usually diagnosed during a routine pregnancy scan. Further tests such as a detailed ultrasound or MRI may be offered to check how severe it is and whether other parts of the brain or body are affected.
In early pregnancy, the baby’s brain and spinal cord begin as a tube-like structure called the neural tube, which is open at both ends. These ends normally close within the first few weeks of pregnancy and go on to form the brain and spinal cord.
Encephalocele happens when part of the baby’s skull does not form properly, leaving a small gap. Through this gap, a part of the baby’s brain and the membranes that cover it can push out, forming a sac or bulge.
This condition is part of a group of problems known as neural tube defects.
The exact cause is not always known, but it can sometimes be linked to:
- Problems during early brain and skull development
- Genetic or chromosome conditions
- A lack of folic acid before and during early pregnancy
- Certain medicines, illnesses, or infections during pregnancy (though this is rare)
Often, no clear reason is found. Your fetal medicine can offer tests and support to help understand the possible cause in your baby’s case.
The outlook depends on the location of the encephalocele, how much meninges/brain tissue is exposed and whether there are other problems. Some babies may have serious disabilities, while others may have milder effects. A fetal medicine team will help assess the likely outcomes and ensure the right specialists are involved with your baby’s care. This may include referral to paediatric neurologist (a doctor who specialises in the brain and nervous system) and a neurosurgeon (a surgeon who operates on the brain and skull) to help support you through this process.
You will be referred to a fetal medicine team for specialist care. They will carry out further scans to understand more about your baby’s condition and help plan your care. The team will offer you information, support, and time to talk through all available options so you can make the decision that feels right for you and your family.
There is a slightly higher chance of it happening in future pregnancies. There is good evidence that taking folic acid can help reduce the risk of encephalocele and other neural tube defects in future pregnancies.
If you are planning another pregnancy, it is recommended that you take 4 mg of folic acid every day for at least three months before getting pregnant and continue for the first three months of pregnancy.
This is a higher dose than the one usually advised for women who have not previously had a baby with a neural tube defect. Your GP or specialist can prescribe this higher dose for you.