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What is anencephaly?

Anencephaly is a condition in which a child is born without portions of the brain and skull. It is a form of neural tube defect (NTD). If the upper portion of the neural tube does not completely close, then a baby will be born with anencephaly. 

It is estimated that one of every 4,600 babies in the U.S. are born with this condition. 

What are the symptoms of anencephaly?

The symptoms of anencephaly are the missing brain and skull. The forebrain and cerebrum are missing in those with this birth defect, and the other parts of the brain are not covered by skin or skull. 

What causes anencephaly?

The neural tube, which is a layer of cells that eventually develops into the brain and spinal cord, does not close in the first few weeks of embryonic development, resulting in anencephaly. 

The cause of this condition in the majority of babies is unknown. In some cases, a change in a gene or chromosome results in anencephaly. The most well known gene related to this defect is the MTHFR gene. This gene produces a protein needed to create vitamin B9. 

In other cases the mother might have come into contact with, eaten, drank, or taken something that triggered a genetic predisposition to anencephaly. 

How is anencephaly diagnosed?

A diagnosis of this birth defect can come during pregnancy or after a baby is born.

During pregnancy prenatal tests are used to check for birth defects. A blood or serum test may show that a baby has anencephaly, as will an ultrasound. 

If this condition is not diagnosed during pregnancy, the doctors will diagnose it immediately at birth, as it is visible. 

What are the treatments for anencephaly?

There is no known cure for this defect, and babies born with this condition pass away shortly after birth. 

There are methods to prevent anencephaly. Pregnant women should ensure that they get enough folic acid. This acid will help to prevent not only anencephaly but other NTDs. 400 micrograms every day are recommended. 

Where can I find out more about anencephaly?

Anencephaly Articles