5 Things You Need to Know About Anencephaly

1. A Life Not Fully Formed

Anencephaly is a rare birth disorder that affects only one in every 1,000 births. This condition is a result of a neural tube defect. Between the third and fourth weeks of pregnancy, the embryo's neural tube (a narrow opening) should close and form the brain and spinal cord. This crucial development is not complete for those suffering from anencephaly, a cephalic disorder. Cephalic is derived from a Greek word meaning "head," and a cephalic disorder refers to the improper development of the nervous system.

2. A Sad and Obvious Presentation

The physical characteristics of a child born with anencephaly are immediately evident upon birth. The skull is not formed and the top of the head is open, what brain tissue there is exposed. There is no forebrain and no cerebrum, the part of the brain responsible for coordination and cognition. Over half of the babies born in this condition are stillborn. For those who survive birth, they are blind, deaf and unconscious (though may have reactions to sound or touch) and normally live for only a few hours, or a few days at most.

3. Pre-birth Tests Can Determine Anencephaly

A few simple, routine tests can determine anencephaly well before the final term of pregnancy. An ultrasound, or sonography, uses high-frequency sound waves to create pictures of the fetus, and any abnormalities can often be seen with this procedure when used between the fourteenth and sixteenth weeks. If anencephaly is suspected but ultrasound images are inconclusive, an amniocentesis can be performed (using a needle to withdraw some fluid from the amniotic sac). High levels of alpha-fetoprotein can indicate some birth disorders, including anencephaly.

4. Speculating on the Causes

The cause of anencephaly is unknown, though several factors are thought to play a role. Undoubtedly, genetics plays a large part. A slight increase in anencephalic births are seen in women who take medication for epilepsy or who have insulin-dependent diabetes. Diet may also have an impact, as studies have shown that the risk of anencephaly can be drastically lowered by increasing the daily intake of vitamin B9 (folic acid) in the diets of pregnant women.

5. What the Future Holds

Many women who have given birth to a child with anencephaly will want to get pregnant again. There is approximately a 3 percent increase in the risk of the woman having another anencephalic child, or one suffering from another birth disorder such as spina bifida. It is highly suggested that these women seek genetic counseling. Increasing their folic acid intake by at least 0.4 mg daily at least two months prior to getting pregnant and through the third term will also greatly lessen the chances of a second anencephalic birth.

Last updated on: Nov 18, 2009

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