Anencephaly is a congenital condition characterized by incomplete formation of the skull bones around the brain, resulting in minimal brain development. Anencephaly is caused by a defect in the closure of the neural tube during fetal development. If the neural tube does not close properly, the developing brain and spinal cord are exposed to amniotic fluid within the womb, which causes the tissue of the nervous system to degenerate. As a result, infants with anencephaly are missing large parts of their brain and bones of the skull. In most cases, babies born with anencephaly die shortly after birth.

Causes of Anencephaly

Anencephaly is considered a neural tube defect, or NTD. Although the exact cause is unknown, it is believed to be caused by a combination of genetic and environmental factors. In addition, research has indicated that a deficiency in folate may play a significant role in the development of neural tube defects. Studies have shown that women trying to conceive and who are pregnant, can significantly reduce the incidence of neural tube defects, such as anencephaly, by taking a daily folic acid supplement.

Symptoms of Anencephaly

Infants born with anencephaly often have exposed brain tissue that may not be covered by bone or skin. A baby born with anencephaly may also experience:

  • Congenital heart defects
  • Blindness
  • Deafness
  • Inability to feel pain

Infants born with anencephaly are often unconscious.

Diagnosis of Anencephaly

Anencephaly may be diagnosed during pregnancy through a blood or serum screening test or during an ultrasound. In some cases, it may not be discovered until the child is born.

Treatment of Anencephaly

There is no cure or treatment currently available for anencephaly. Most babies born with this condition will die within a few hours or days after birth. Research is consistently being performed to fully understand the cause of this condition and other neural tube disorders, in order to prevent these fatal birth defects.

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