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What is Anencephaly? Symptoms and causes

October 23, 2024

What is Anencephaly? Symptoms and causes
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What is Anencephaly? Symptoms and causes

Anencephaly is a birth defect in children, often called a congenital disorder. Children with this condition are born without parts of their brain or skull. It affects the brain and skull bones. 

What is Anencephaly?

The condition affects a baby’s brain, spine, and nerves, essentially the nervous system of the baby. There is a part called the neural tube which is responsible for growing the brain, skull, backbones, and spinal cord of the baby. When the neural tube doesn’t develop or fails to close as it should in the first month of pregnancy, then the condition is called anencephaly. Anencephaly is a type of cephalic disorder called a neural tube defect.

The brain controls body functions, memory, and emotions and is essential for human survival. Anencephaly affects how the brain develops in an unborn baby. Either the brain will not be fully formed or the bone at the back of the head, front, and sides may be missing. Babies born with this condition do not have a chance for survival. They may not survive for more than a few minutes, hours, or days. A pregnancy with anencephaly normally ends in a miscarriage or even if the child is born, it may be a stillbirth.

 Symptoms of Anencephaly

Anencephaly cannot be detected unless a blood test of the birthing parent is done or an ultrasound is done. Newborn babies with anencephaly have:

  • No bones at the back of the head
  • Missing bones on the front and side of the head
  • Large areas of the brain missing
  • Folding of the ears
  • Congenital heart defects: structural problems with the chambers, walls, and valves
  • No consciousness and ability to feel pain
  • No vision and hearing
  • Cleft palate: An opening can extend into the nasal cavity
  • Smaller head size

Newborns with anencephaly may or may not develop a brain stem. If the brainstem is present, they may have reflexes and respond to touch. This may give a parent hope but they will not be able to live with the condition for long.

Causes of Anencephaly

Anencephaly is caused by a problem of how the neural tube forms and closes. During the third and fourth week of pregnancy, the brain and spine begin to develop as a flat plate of cells. This plate rolls into a tube called the neural tube. In a normal child, this tube is completely formed in 28 to 32 days after conception. If all or some part of the neural tube fails to close, this leaves an opening. This is called an open neural tube defect. It is possible that the opening in the tube can be left exposed or covered with bone and skin. When the neural tube fails to close at the base of the skull, it is called anencephaly.

Some neural tube defects may be caused by genes passed on from both parents. Sometimes it could be caused by environmental factors such as obesity, uncontrolled diabetes in the mother, and certain prescription medicines. In many cases, it has been seen that babies with neural tube defects do not have any family history of this problem.

Prevention and Diagnosis

The diagnosis of anencephaly must be done during pregnancy. Tests can include:

  • A blood test of the mother’s blood called a quad screen can check if there is a neural tube defect or other problems. The test must be done between 16 to 18 weeks of pregnancy. The test measures levels of alpha-fetoprotein (AFP) which is a protein made by the baby’s liver growing in the womb. High levels of this protein leak into the mother’s blood and show the presence of anencephaly.
  • Prenatal ultrasound: An ultrasound is an imaging test that uses high-frequency sound waves and a computer to make images of blood vessels, tissues, and organs. A healthcare provider can observe the organs as they function using an ultrasound. Since an ultrasound also shows blood flow, it will be able to find an open neural tube defect.
  • Amniocentesis: Amniocentesis is when a small sample of the fluid that surrounds the baby in the womb is checked for AFP. To get this fluid, the healthcare provider uses a long, thin needle to reach the amniotic sac.
  • Foetal MRI: An MRI test uses high-powered magnets to produce images of tissues and bones. This can provide greater detail about the brain and spine of the baby.

If the diagnosis is made after birth, the baby’s head appears flattened because of the abnormal brain growth and missing skull bones.

Prevention of anencephaly may not be possible always but you can reduce the possibility of having a child with this defect by doing a few things:

  • Getting plenty of folic acid: Since the neural tube closes 28 to 32 days after the baby is conceived, many women are unaware that they are pregnant at this stage. However, if you are planning to conceive, you can start taking folic acid. Folic acid (Vitamin B-9) is found in leafy green vegetables, nuts, beans, citrus fruits, and fortified breakfast cereals.
  • Medication: If you are planning to conceive, talk to your healthcare provider about the medications that you are taking. Certain medicines that regulate seizures can cause neural tube defects.
  • Managing your health: If you are planning to conceive and have underlying health conditions like diabetes, talk to your healthcare provider and find ways to regulate it and stay in good health.
  • Avoid alcohol or being around hazardous chemicals.

Impact and Support

The outlook for anencephaly is very poor and most babies with the condition pass away before birth or the pregnancy ends in miscarriage. If born, the baby may die within a few minutes, hours, or days of birth. You may worry about your baby being in pain, distress, or discomfort. However, babies with anencephaly cannot feel pain, think, or respond.

Knowing that your baby has anencephaly can be very difficult for the parents. It is important to seek help to say goodbye to your baby and bear the loss of a child. You must find support and someone to talk to. Finding a counselor for bereavement and grief will be crucial. There are support groups that can also help. Therapy can help you deal with the loss that you are faced with.

Conclusion

When planning a pregnancy, it is important to consult with a healthcare provider to see how you can maintain good health and therefore lower the risk of having a child with a birth defect. If you are pregnant and have symptoms of a miscarriage like heavy bleeding, cramps, back or abdominal pain, contact your healthcare provider immediately.

Frequently Asked Questions

1. What is anencephaly?

Anencephaly is a birth defect in children where they are born without parts of their brain or skull.

2. What happens if I have a baby with anencephaly?

Unfortunately, the outlook for this condition is very poor and a baby born with this condition will die within a few minutes, hours, and days of birth.

3. How can I prevent anencephaly?

Staying healthy during your pregnancy and getting a lot of folic acid, avoiding certain medications is very important. Managing conditions like diabetes and avoiding alcohol and exposure to hazardous chemicals is a must.

4. How should I take care of myself after I lose a child?

It is important to seek counselling for grief and bereavement. Reach out to support groups and family. Find someone to talk to.

5. Can anencephaly be treated?

Unfortunately, there is no treatment or cure for anencephaly. The baby will die before birth and result in a miscarriage or die as soon as they are born.

Disclaimer: We recommend consulting a Doctor before taking any action based on the above shared information.


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