Anencephaly: definition, causes, symptoms, treatment

Definition

What is anencephaly (anencephaly)?

Anencephaly or anencephaly is a serious birth defect that causes a baby to be born without part of its brain and skull.

Anencephaly is a birth defect that occurs when the neural tube does not close completely during the first few weeks of fetal development in the womb.

The neural tube itself is a layer of cells that will later develop into the baby's brain, skull, spinal cord, and other accompanying tissues.

The neural tube usually forms early in pregnancy and closes on the 28th day after conception.

This improper closure of the neural tube causes the developing baby's brain and spinal cord to be exposed to the amniotic fluid that surrounds the uterus.

This exposure to amniotic fluid then causes nervous system tissue to break down and break down. Anencephaly or anencephaly is a condition caused by a neural tube defect that is also classified as a neural tube defect.

Illustration of a baby with anencephaly (source: CDC)

Anencephaly can result in babies born without parts of the brain known as the cerebellum and cerebellum.

In fact, this area of the brain is necessary for thinking, hearing, seeing, emotions, and coordinating movement.

The skull bones were also partially missing or not completely formed. This results in the remaining part of the brain often not covered by bone or skin.

How common is anencephaly?

Anencephaly is a fairly common pregnancy complication. However, the exact number is unknown because many pregnancies involving neural tube defects end in miscarriage or stillbirth.

About one in 1,000 pregnancies has a high chance of experiencing this. Anencephaly is more common in newborn girls than boys with a ratio of three to two.

This may be due to the higher incidence of spontaneous abortion or stillbirth among male fetuses.

In about 90 percent of cases, the parents of the baby with anencephaly do not have a family history of the disorder.

However, if parents have had children who were born with anencephaly, they are more likely to have another baby with this condition.

However, the recurrence rate is quite low at four to five percent. This risk can increase to 10 to 13 percent if the parent has two previous children with anencephaly.

According to the U.S National Library of Medicine, this condition of anencephaly is quite severe. That is why, almost all babies with anencephaly can die before birth or within hours of being born.

Signs and symptoms

What are the signs and symptoms of anencephaly?

The most obvious sign and symptom of anencephaly or anencephaly is the loss of part of the baby's skull that should be part of the bone at the back of the head.

In addition, the bones that are on the side or front of the skull can also be lost or formed, but in poor condition.

In fact, the baby's brain is usually not clearly formed. In fact, without a properly functioning cerebellum, it is unlikely that the baby will be able to survive.

Some other signs that can be seen due to anencephaly or anencephaly include the condition of the ear folds, palate, and poor body reflexes. Not only that, there are some babies born with anencephaly who also have heart defects.

When to see a doctor?

If you see your little one has the above signs of anencephaly or other questions, please consult your doctor. The health condition of each person's body is different.

Always consult a doctor in order to get the best treatment regarding your and baby's health condition.

Cause

What causes anencephaly?

According to the Cleveland Clinic, not all cases of anencephaly are known to be the cause. Some babies are born with anencephaly because of a change in their genes or chromosomes.

The most studied of these genes is MTHFR, the gene that provides instructions for making a protein involved in the processing of folic acid (also known as vitamin B9).

Folic acid deficiency during pregnancy or before planning to become pregnant is a strong risk factor for neural tube defects, one of which includes anencephaly or anencephaly.

Anencephaly may also be caused by a combination of genes and other factors, such as things related to the mother's environment or what she eats or drinks.

If a woman uses certain prescription drugs during pregnancy, this can increase the risk of having a baby for anencephaly or anencephaly.

On the other hand, mothers who are exposed to toxins from the environment, drugs, to food or drink can also cause anencephaly.

Even so, health experts do not have sufficient evidence to confirm this.

Risk Factors

What increases your risk of developing anencephaly?

Risk factors that increase the likelihood of developing anencephaly in infants include diabetes and obesity.

So, if you had diabetes and obesity before pregnancy, you may be at risk of causing complications during pregnancy.

That is why it is recommended that you always consult a doctor regarding all health conditions while pregnant.

Exposure to high temperatures from saunas and high fevers have also been known to increase a baby's risk of neural tube defects, including anencephaly.

One of the risk factors for anencephaly or anencephaly is insufficient maternal folate intake. Folate intake is likened to an important nutrient that can increase the risk of having a baby with neural tube defects, including anencephaly.

In addition, having had a baby with anencephaly is also a risk factor or an opportunity to experience this again.

If this is the second pregnancy, the chance for the baby to have anencephaly or anencephaly is 4-10 percent.

Meanwhile, if this is the third pregnancy, the chance for the baby to experience anencephaly increases to 10-13 percent.

Medicine and Medicine

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the usual tests to diagnose anencephaly?

Doctors can do tests to diagnose anencephaly or anencephaly during pregnancy or after the baby is born.

Diagnosis made after the baby is born will usually be easier because the skull abnormalities are clearly visible. In some cases, part of the scalp was missing along with the skull.

While examinations during pregnancy to determine anencephaly can be done between the 14th and 18th week of gestation.

Here are some tests that mothers can undergo during pregnancy:

Blood test. High liver alpha-fetoprotein protein levels may indicate anencephaly.
Amniocentesis. The amniotic fluid will be checked for abnormal development.
Ultrasound. The high-frequency sound waves from an ultrasound can help show the physical signs of anencephaly.
Fetal MRI. A fetal MRI examination will show more detailed images than an ultrasound of the fetus in the womb.

What are the treatment options for anencephaly?

The Centers for Disease Control and Prevention (CDC) explains that there is no cure or treatment for babies with anencephaly.

Nearly all babies born with anencephaly will die shortly after birth. Even so, babies who survive will be provided with supportive care.

The baby will be kept warm in the incubator and the vulnerable areas of the brain will be protected.

Sometimes special bottles are used to help feed babies who may have difficulty swallowing breastmilk, either by breastfeeding directly or through the nipple bottle from the breast pump.

Prevention

How to prevent anencephaly in babies?

Getting enough folic acid before and during early pregnancy can help prevent neural tube defects, such as anencephaly.

Women of childbearing age are encouraged to consume folic acid every day, either through food intake or supplements.

You can further consult with your doctor to get the rules for taking folic acid and the appropriate dosage to prevent anencephaly.

Folic acid fulfillment is still important even if you do not intend to become pregnant. This is a precaution because neural tube defects form very early in pregnancy, often before women even realize they are pregnant.

Women who have had previous pregnancies affected by neural tube defects are advised to take folic acid starting 30 days before conception.

This rule continues to be recommended to be carried out from the first trimester of pregnancy at the correct dosage under the supervision of a doctor.

However, do not take too much folic acid, unless recommended by a doctor. Too high a dose of folic acid can mask a diagnosis of pernicious anemia caused by vitamin B12 deficiency.