Anencephaly: What you need to know about a condition in which the brain and skull do not form properly in a fetus

Today we are going to talk about a somewhat sensitive topic, and one that shocks many parents. That is the birth defect called Anencephaly. You may not have even heard of this name. However, it is very important for anyone expecting a new baby to be aware of this. Reading this may make you feel sad and scared. But we are talking about this to educate you, not to scare you. So let's talk about this in detail and simply.

Simply put, what is Anencephaly?

Anencephaly is a very serious, congenital (present at birth) disorder . Simply put, in this condition, a baby is born without some important parts of the brain and skull. This is a very sad condition.

The brain controls every function in our body. From breathing to thinking and feeling, the brain is essential for everything. So, because parts of the brain are not properly formed, a baby born with Anencephaly has a very low chance of survival. Most of the time, such pregnancies end in miscarriage or stillbirth. Even if they are born, those babies only live for a few minutes, a few hours, or a few days at most.

How does this happen? What is the neural tube?

To understand this, we need to go back to the first few weeks of a baby's development. Think about it, during the first few weeks of a baby's development, specifically between the third and fourth weeks of pregnancy , the baby's nervous system begins to form. It starts out as a flat piece of tissue. This tissue then folds and forms into a tube-like shape. We call this the neural tube .

This neural tube is the foundation of the baby's entire nervous system.

• The brain and skull form from the upper part of the tube .
• The spinal cord develops from the middle part of the tube .
• The lower part of the tube forms the backbones.

Anencephaly occurs when the top of the neural tube does not close properly . This means that the brain and skull do not close properly where they should. As a result, important parts of the baby's brain, such as the forebrain and cerebrum, do not develop. Although some other parts of the brain do form, they are outside, not covered by a skull or skin. We commonly call these types of defects Neural Tube Defects (NTDs) .

Are there main types of anencephaly?

Yes, there are three main types of anencephaly. All three types are fatal to the fetus.

• Meroanencephaly: In this type, parts of the brainstem and midbrain are partially developed. The brain may also be barely covered by some skin and parts of the skull.
• Holoanencephaly: This is the most common type of anencephaly. In this condition, the brain is not developed at all.
• Craniorachischisis: This is the most severe type. In this case, the brain, skull, and spinal cord do not develop at all.

How common is this condition? What are the symptoms that can be detected during pregnancy?

Anencephaly is a common neural tube defect. Studies suggest that it occurs in about 1 in 1,000 pregnancies. However, as we mentioned earlier, because most of these pregnancies end in miscarriage, the actual number of babies born with this condition is much lower.

This condition can be detected early through tests performed during pregnancy. There are several signs that can point to this.

What are the symptoms of this condition in a newborn baby?

This is also very difficult to talk about. Because a baby born with anencephaly lacks major parts of the brain, they have no awareness or consciousness of anything.

That means,

• They can't see .
• They don't hear .
• They don't feel pain .

Sometimes, if the baby's brainstem is fully developed, the baby may have some reflexes . This means that they may flinch a little when you touch them. This can be very reassuring for parents. However, we need to understand that this does not mean that the baby is conscious, that he can feel you, or that he can live for a long time. It is just something that happens automatically.

What are the causes and risk factors for anencephaly?

It is difficult to pinpoint a single cause for this condition. It is believed that it is often caused by a combination of genetic and environmental factors.

Is this something that comes from generations?

Anencephaly is not usually inherited. In most cases, it is caused by a sporadic genetic mutation, with no family history.

However, if you have previously had a child with a neural tube defect (e.g. spina bifida) , your risk of having another child with the same defect is about 20 times higher than the average person.

How to diagnose this condition during pregnancy?

With current technology, anencephaly can be diagnosed with high accuracy through prenatal testing. These tests are usually performed between 18-20 weeks of pregnancy.

• Quad Marker Screen: This is a test that is done on a blood sample taken from the mother. It checks for 4 things in the mother's blood. This test also checks for the alpha-fetoprotein (AFP) level that we talked about earlier. If the AFP level is very high, it is a sign of a neural tube defect.
• Ultrasound: This is something that many people are familiar with. It uses sound waves to take pictures of the baby. Here, the doctor can check the development of the baby's skull, brain, and spinal cord. Anencephaly can be clearly identified with this scan.
• Fetal MRI scan: Sometimes, if further confirmation is needed, the doctor may refer you for an MRI scan. This can produce clearer, more detailed images of the brain and spinal cord.
• Amniocentesis: In this test, a very thin needle is inserted into the uterus and a small sample of the amniotic fluid surrounding the baby is taken. The fluid is tested for levels of an enzyme called AFP and acetylcholinesterase. If these levels are high, it is a strong sign of a neural tube defect.

What is the treatment and outlook?

This is truly heartbreaking. There is currently no treatment or cure for anencephaly, as the brain cannot regenerate once it is lost.

This condition is fatal. It means that the baby has no chance of survival. Most of the time, the fetus dies in the womb. Even if it is born, it dies within a few hours or days. This is an unbearable pain for the parents. At a time like this, your doctors, nurses, and other medical staff will provide you and your family with the necessary psychological support and help you cope with this grief.

What can we do to prevent this kind of situation?

While a condition like anencephaly cannot be 100% prevented, there are several things we can do to significantly reduce the risk .

• Getting enough folic acid: This is the most important thing. Every woman planning to have a baby should start taking 400 mcg (micrograms) of folic acid daily for at least a month before getting pregnant. Neural tube defects occur within the first month of pregnancy, before you even know you're pregnant. That's why it's important to start taking folic acid early. If you've had a baby with a neural tube defect before, your doctor may recommend a higher dose.
• Talking to your doctor about the medications you are taking: If you are planning to have a baby, tell your doctor about all the medications you are currently taking. Some medications can be harmful to the fetus, so your doctor can recommend suitable alternatives.
• Managing your health conditions: If you have another medical condition, such as diabetes, make sure it is well controlled before you get pregnant. Talk to your doctor for advice.

How do you deal with the grief of losing a child?

Finding out that your baby has Anencephaly can be one of the most devastating experiences any parent in the world can face. It is a pain beyond words. It is normal to feel a lot of emotions at this time, including sadness, anger, hopelessness, and guilt.

Don't try to bear this grief alone.

• Talk about your feelings with your husband/wife, family, and trusted friends.
• The medical staff will provide you with the support you need. They may refer you to a mental health professional or a support group with other parents who have gone through similar experiences.
• It will take time to recover from this grief. Let yourself deal with this at your own pace.

Even if you do everything your doctor tells you to do to have a healthy pregnancy, sometimes these serious birth defects can happen. That's the harsh reality. Anencephaly is a truly heartbreaking diagnosis. But you are not alone in this journey. Don't hesitate to get the support you need.