The Symptoms, Causes, and Treatment for Anencephaly

Anencephaly is a condition incompatible with life. In this article, you'll learn about the symptoms, causes, and treatment for anencephaly.
The Symptoms, Causes, and Treatment for Anencephaly

Last update: 07 September, 2021

It’s common to hear about congenital defects on a daily basis. Cardiovascular, neurological, and joint malformations, among others. Many of these conditions require prolonged treatment. And, in some cases, children can live many years with them. But what would happen if the brain never forms? That’s what anencephaly is all about. Although we’re referring to a rare disease, the maternal (and perhaps fetal) suffering it entails is enormous. That’s because there’s no treatment for anencephaly and it’s incompatible with life.

What is anencephaly?

Anencephaly is a congenital disease that consists of the absence of development of some parts of the nervous system and the baby’s skull.

Some decades ago, it was a more frequent condition, according to a review by Dr. Bermejo Sanchez published in Spain in 2010. However, its incidence has decreased considerably.

From an embryonic point of view, an organ known as the prosencephalon doesn’t develop correctly. In healthy babies, this organ is what gives rise to most of the brain.

This health condition is included among the neural tube defects, a group of congenital pathologies that also includes spina bifida.

How does anencephaly manifest itself?

The most obvious sign of anencephaly is the characteristic cranial deformity, where most of the “contents” of the head are absent. Affected infants often have some significant facial malformations as well.

Since the brain is the part of the body that’s responsible for so many executive functions, life is incompatible without it. For this reason, there’s no treatment for anencephaly, and the death of the baby occurs in the first hours or days of life.

The causes of anencephaly

Experts from the Centers for Disease Control and Prevention (CDC) assure us that the exact causes of anencephaly are unknown. However, we do know that it occurs as a result of the interaction between genetic and environmental factors.

Alterations in the chromosomes (structures that house all the genes of the cells) and some specific mutations could contribute to its appearance. Exposure to certain environmental toxins has also been studied as a possible determinant. However, research results aren’t conclusive at this time.

Low folic acid intake in the months before and during pregnancy may be a decisive factor in the development of the disease. We’ll discuss this a little later.

A pregnant woman taking a pill with a glass of water.

Risk factors for anencephaly

Mothers who have poor prenatal care or who follow unhealthy lifestyle habits (unbalanced diets, smoking, alcoholism) tend to present greater health complications during pregnancy. For example, some congenital diseases such as anencephaly.

During prenatal evaluations, the midwife or obstetrician should prescribe folic acid supplements to prevent neural tube defects. When a mother doesn’t attend these consultations early on, she’s likely to suffer from a lack of this micronutrient and increase the risk of developing the disease.

Is there a treatment for anencephaly

Anencephaly is a serious and incurable condition, leading to the death of the baby soon after birth.

An article entitled “Scientific ethics of abortion in case of anencephaly” (2011) states the following:

“Pregnancy with an anencephalic or acranous embryo or fetus (a situation with the most extreme lack of nervous and bone tissue) poses the dilemma of its termination to avoid maternal, familial, and possibly fetal suffering of a being destined for early postnatal death, with ordinary means of subsistence.”

A doctor talking to a pregnant woman.


Final recommendations

Anencephaly is a complex and rare pathology, thanks to the advances of modern medicine. While there’s no treatment for anencephaly, measures as basic as early obstetric check-ups, including prenatal consultation and the daily consumption of folic acid supplements can greatly reduce the chances of developing the disease.

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