HomeBrainBrain DiseaseAnencephaly: A Neural Tube Problem

Anencephaly: A Neural Tube Problem

There are different types of birth defects that parents should be careful of Anencephaly is one serious condition that is hard to stop once it has been diagnosed since the development starts very early in the pregnancy . Anencephaly will present standard symptoms that can be determined before or after delivery. The prognosis of patients is generally poor since most babies die a few hours or days after delivery. Knowing about the potential risks and preventive measures can guide parents on how to address the problem effectively.

Overview of Anencephaly

When anencephaly is diagnosed, a huge portion of the skull and brain is missing among affected patients. The condition is a birth anomaly wherein the delivered baby is lacking certain parts of the brain and skill. Anencephaly is called an NTD or neural tube defect which can occur particularly during the first trimester of pregnancy.

The neural tube develops and naturally closes to form the skull and brain of the baby. The upper part of the neural tube will create and form the brain and skull of the fetus, while the lower region of the neural tube will create and form the spinal cord and bones of the back. The condition occurs if the upper portion of the neural tube does not fully close.

The effect is a delivered baby lacking the forebrain or front portion of the brain and the cerebrum, which is responsible for coordination and thought processing. Other remaining portions of the brain are not protected by skin or bone. Almost all babies delivered with the condition will die just a few hours or days after delivery. About 1 in every 5,000 delivered babies in the United States is born with the condition.

Causes of Anencephaly

Anencephaly is a frequently occurring neural tube defect. As an NTD, it involves the formation of tissue in the brain and spinal cord. The unborn baby will start to develop the problem during the first month, before the mother even realizes that she is pregnant. The defects will develop if the upper region of the neural does not close. The cause for failure to close is not fully understood by doctors. Some of the possible triggers are said to include low consumption of folic acid, toxins and pollution, environmental factors and poor nutrition by the mother. Many pregnancies with the fetal condition also lead to miscarriage. It is possible for a mother to conceive more than one child with the same condition. The risk actually goes higher with each delivery.

Symptoms and Diagnosis of Anencephaly

Anencephaly is very easy to diagnose especially once the baby is born. The general characteristics include the absence of a skull, lack of some parts of the brain like the cerebellum, frontal region and cerebral hemispheres, abnormalities or changes in the face, problems and defects in the heart and weak pulse. During pregnancy, an ultrasound can identify the problem. Most ultrasound results will show excessive fluid inside the uterus or polyhydramnios. This will indicate the possibility of the fetus having the condition. Other diagnostic tests that can be done in-utero include amniocentesis to determine high levels of alpha-fetoprotein. Urine estriol levels will be checked as well as a pre-pregnancy serum folic acid test.

More Info on Anencephaly

According to the Centers for Disease Control or CDC, a number of factors can be contributive to the development of neural tube defects, particularly anencephaly. It’s important for mothers and families to determine the possible risk factors and causes so that they can practice the proper preventive measures. Genetics, health practices, lifestyle, diet and environmental factors seem to play a role in the development of the condition. When couples are trying to conceive, they have to ensure that the mother stays healthy especially during the first month when neural tube defects are said to possible take place.

The risk and occurrence of neural tube defects and anencephaly is shown to significantly decrease among women who regularly take folic acid especially during the first trimester. According to studies, the risk can drop by as much as 60% among women taking folic acid regularly. Although the condition can affect fetuses regardless of location and race, there seems to be a heightened risk among Hispanic mothers. Couples should consult with doctors especially during the early stages of pregnancy to determine the proper preventive methods and how to cope with the effects if the baby is suspected to have anencephaly.

Treating Anencephaly

The truth is there is no known cure for anencephaly. Almost all babies conceived or born with the condition are expected to die shortly just after delivery. This is because the brain is a vital organ. Without the support provided by the mother while the fetus is still in the uterus, the baby will find it very difficult to survive.

Screening tests and diagnostic examinations during pregnancy will usually have the doctors lay out the options to the expecting parents. There are major decisions to be made that will ultimately determine whether or not they should proceed with the pregnancy. Some cases will not show any abnormality during pregnancy so the condition will only be determined once the baby is delivered.

Prevention of Anencephaly

Pregnant women also cannot undergo any type of therapy or take certain medications that will improve the condition of the growing fetus, considering that the defect was acquired during the first months of pregnancy. There is little the women can do once the problem has started. However, it is better for parents to start planning ahead and supplement with good amounts of folic acid to minimize the effects and possibility of developing neural tube defects or birth defects in general.

Women should take more folic acid through supplements and other healthy sources. Taking the nutrient can reduce the risk of development by 50% to 60%. The best way for women to prevent the problem is by living a healthy lifestyle. They should get enough rest, exercise regularly and eat nutritious food. Planning the pregnancy will also be helpful especially if the mother had given birth to a baby with the same condition before.


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Written by Dr. Ozair (CEO of SignSymptom.com) as physician writers are physicians who write creatively in fields outside their practice of medicine.

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