Anencephaly

ANENCEPHALY is a neural tube defect that occurs when the cephalic (head) end of the neural tube fails to close, usually between the 23^rd and 26^th days of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain—the largest part of the brain consisting mainly of the cerebrum, which is responsible for thinking and coordination. The remaining brain tissue is often exposed–not covered by bone or skin.

Infants born with anencephaly are usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brainstem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as respiration (breathing) and responses to sound or touch may occur.

The disorder is one of the most common disorders of the fetal central nervous system. Approximately 1,000 to 2,000 American babies are born with anencephaly each year. The disorder affects females more often than males.

The cause of anencephaly is unknown. Although it is believed that the mother’s diet and vitamin intake may play a role, scientists agree that many other factors are also involved.

There is no cure or standard treatment for anencephaly and the prognosis for affected individuals is poor. Most infants do not survive infancy. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth. Anencephaly can often be diagnosed before birth through an ultrasound examination.

Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of child-bearing age consume 0.4 mg of folic acid daily.

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Last updated 11/22/99