15032 Anencephaly

Overview

Anencephaly is a serious birth defect that happens when a baby's brain and skull do not form completely in the womb. Most of the brain and the top of the skull are missing. It is a type of neural tube defect, meaning the early structure that becomes the brain and spine fails to close properly. Babies with this condition are either stillborn or live only a few hours to a few days.

Anencephaly is rare. In the UK, it affects about 1 in every 2,000 to 3,000 pregnancies, though many are detected early and end in miscarriage or termination.

It can affect unborn babies in any community or family. It affects slightly more girls than boys.

Symptoms

Common symptoms

• During pregnancy, a scan may show missing parts of the baby's skull and brain.
• The mother may have too much or too little amniotic fluid.
• After birth, the baby may have a missing or underdeveloped skull, with the top of the head absent.
• The baby may not respond to sound, light, or touch.

Causes

Main causes

• The exact cause is often unknown. It happens when the neural tube fails to close completely at the top end during the first few weeks of pregnancy.
• It is not caused by anything the parent did or did not do.

Risk factors

• Not getting enough folic acid (folate) before and during early pregnancy
• A family history of neural tube defects
• Certain medications taken before or during pregnancy (talk to your doctor)
• Diabetes that is not well controlled before pregnancy
• Having obesity before pregnancy

When to see a doctor

See a doctor urgently if:

• If you are pregnant and a scan or test raises concerns about your baby's development, see your midwife or doctor promptly.
• If your baby is born with anencephaly and shows signs of distress, such as breathing problems or seizures, seek urgent medical help.

Book a routine appointment if:

• During pregnancy, keep all prenatal appointments. If you have questions about screening or your risk factors, talk to your healthcare provider.
• If you are planning another pregnancy after an affected baby, make an appointment with your doctor for preconception advice and folic acid guidance.

Diagnosis

Anencephaly is usually found during a routine ultrasound scan in pregnancy, most often between 18 and 20 weeks. It can also be suspected through blood tests. After birth, a physical exam confirms the diagnosis.

Tests that may be done

• Prenatal ultrasound (detailed scan of the baby's head and brain)
• Maternal blood test to check for alpha-fetoprotein (AFP)
• Amniocentesis if more information is needed (a small sample of amniotic fluid is taken)

What to expect at your appointment

If anencephaly is found during pregnancy, your doctor or midwife will explain what it means, what you might expect, and what support is available. You will be given time to ask questions and make decisions that feel right for you. If the baby is born alive, the care team will focus on keeping the baby comfortable and supporting your family.

Treatment

There is no cure or surgical treatment for anencephaly. The focus is on comfort and supportive care, sometimes called palliative care. If the condition is found before birth, you will be supported to explore your options and make your own informed choices.

Self-care at home

• Ask for clear, truthful information from your healthcare team, and ask questions as many times as you need.
• Take time to process the news. Allow yourself and your partner to grieve.
• If you choose to hold your baby after birth, it is okay to talk, sing, or cuddle them – they may feel comfort from your presence.

Medical treatments

For babies born alive, medical care is about keeping them warm, comfortable, and free from pain. Medicines may be used to help with symptoms such as seizures, but only as prescribed by the baby's doctor.

When is surgery considered?

Surgery is not used to correct anencephaly. Any care procedures are for comfort only, not for curing the condition.

Living with this condition

For the short time a baby with anencephaly may be alive, day-to-day care focuses on comfort and closeness. After the baby passes, grief and mourning are a natural part of the journey. Many families find it helpful to create memories, such as taking photos or holding the baby, if they wish.

Lifestyle tips

• If you are planning another pregnancy, talk to your doctor about taking folic acid before conception.
• Ask about genetic counselling to understand your risk for future pregnancies.
• Connect with support groups for parents who have lost a baby, if that feels helpful to you.

Diet and exercise

There is no diet or exercise that changes anencephaly. For your own health and for future pregnancies, focus on a balanced diet, maintaining a healthy weight, and taking folic acid as recommended by your healthcare provider.

Mental health and emotional wellbeing

A diagnosis of anencephaly can cause deep sadness, shock, guilt, and anxiety. These feelings are very common. It is important to talk to your doctor about your mental health and to seek counseling or emotional support. You do not have to carry this alone.

Prevention

Not all cases can be prevented, but taking folic acid before and during early pregnancy can greatly reduce the risk of neural tube defects like anencephaly. It is advised to start folic acid at least one month before you plan to become pregnant and continue through the first three months of pregnancy.

Vaccines

Not applicable – there is no vaccine for anencephaly.

Screening programmes

Prenatal screening is available to detect neural tube defects. Talk to your doctor or midwife about the timing and types of screening available.

Complications

If left untreated

• There is no treatment that can reverse anencephaly. Without treatment, the condition is fatal; most babies die before birth or within a short time after birth.
• The emotional impact on the family can be profound, so grief support is essential.

Long-term outlook

The loss of a baby to anencephaly is heartbreaking. With compassionate care, you and your family can hold and love your baby for whatever time you have together. Support is available to help you through this painful journey, and your healthcare team will walk with you every step of the way.

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