Anencephaly

Anencephaly is a defect in the neural tube that normally closes early in the first trimester of pregnancy. The neural tube is the channel that closes over between the third and fourth week of pregnancy and that has two ends, one at the level of the brain and one at the level of the distal spinal cord. When the head end fails to close the result is a lack of skull tissue and a loss of a great deal of the brain. Those who are born with anencephaly have no forebrain along with no skull. A baby born with anencephaly is blind, deaf, has no level of consciousness and cannot feel pain. Some have no brainstem and cannot breathe on their own. Responses to sound are absent.

The actual cause of anencephaly is unknown. Some people believe that a low level of folic acid is to blame for neural tube defects like anencephaly. This is why women who are pregnant or who are trying to get pregnant should take at least 400 micrograms of folic acid per day. Folic acid is also known as vitamin B9.

Anencephaly is one of the most common forms of neural tube defect. It is a tragic deformity of the skull and brain that is uniformly fatal. It happens very early in pregnancy, before a woman knows she is pregnant. Environmental toxins may play a role in the development of the disease. Anencephaly occurs at a rate of 1 out of 10,000 births. Many of these deformities end in miscarriage. Having had a child who had a neural tube defect increases somewhat your risk of having another child with the disease.

Symptoms of anencephaly include an absence of the back portion of the skull along with an absence of the cerebral hemispheres and the cerebellum with only the brainstem remaining (in most cases). There are abnormalities of the facial features as well as various types of heart defects.

Tests for anencephaly include a maternal screening test for alpha fetoprotein. If this is elevated, a test for the level of alpha fetoprotein level in the amniotic fluid is done, which will be elevated in anencephaly. In addition, an ultrasound will show a lack of skull formation and an increase in the amount of fluid in the uterus, which is called polyhydramnios. A urine estriol level is abnormal in cases of anencephaly. Doctors can do a prepregnancy folic acid level to make sure it is normal before attempting to get pregnant.

Treatment of anencephaly is basically supportive. The infant is likely to die at birth or at a few weeks of age. Some parents choose not to do any form of treatment in order to prolong the inevitable death of the infant. The infant often has no or limited suck reflex and cannot eat. IV fluids only prolong death and a respirator, for many parents, is out of the question because the outcome is so uniformly grim.

The prognosis of anencephaly is poor. All babies die at birth or shortly after birth. A few babies live for a few weeks before dying of respiratory failure or from an infection of the nervous tissue.

Prevention of anencephaly includes getting enough folic acid in your system before you get pregnant and throughout the pregnancy. It can reduce the incidence of all sorts of neural tube defects, including anencephaly and spina bifida. You can reduce your chances of getting anencephaly by fifty percent if you get enough folic acid through vitamins or through the diet. Avoid environmental exposure to toxins, which can be a cause of anencephaly.

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