About anencephaly

What is anencephaly?

Anencephaly facts

  • Anencephaly is an example of a neural tube defect, a condition that results from an error in the first weeks of embryonic development.
  • In anencephaly, the bones of the skull and brain do not develop properly. Babies with anencephaly are missing large areas of the brain and have an incomplete skull.
  • Anencephaly affects about 1 out of every 1,000 pregnancies, but most cases end up as miscarriages. About 1 out of every 10,000 babies in the U.S. is born with anencephaly.
  • In most cases, anencephaly is sporadic, meaning it does not run in families.
  • Anencephaly is not compatible with life. Most babies with anencephaly are stillborn or die within days or hours of birth.
  • The exact cause of anencephaly is unknown, but it is likely the result of an interaction among several genetic and environmental factors.

What is anencephaly?

Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect (NTD).

What are the symptoms for anencephaly?

The most noticeable signs of anencephaly are the missing parts of the skull, which are usually the bones in the back of the head. Some bones on the sides or front of the skull may also be missing or poorly formed. The brain also isn’t formed properly. Without a healthy cerebral cortex, a person can’t survive

Other signs may include a folding of the ears, a cleft palate, and poor reflexes. Some infants born with anencephaly also have heart defects.

What are the causes for anencephaly?

The cause of anencephaly is generally unknown, which can be frustrating. For some babies, the cause may be related to gene or chromosome changes. In most cases, the baby’s parents have no family history of anencephaly.

What are the treatments for anencephaly?

There is no treatment or cure for anencephaly. An infant born with the condition should be kept warm and comfortable. If any parts of the scalp are missing, exposed parts of the brain should be covered.

The life expectancy of an infant born with anencephaly is no more than a few days, more likely a few hours.

What are the risk factors for anencephaly?

A mother’s exposure to certain environmental toxins, medications, or even foods or beverages may play a role. However, researchers don’t know enough about these potential risk factors yet to provide any guidelines or warnings.

Exposure to high temperatures, whether from a sauna or hot tub or from a high fever, may raise the risk of neural tube defects.

The Cleveland Clinic suggests certain prescription drugs, including some of those used to treat diabetes, may increase the risk for anencephaly. Diabetes and obesity may be risk factors for pregnancy complications, so it’s always ideal to talk with your doctor about any chronic conditions and how they may affect your pregnancy.

One important risk factor related to anencephaly is inadequate intake of folic acid. A lack of this key nutrient may raise your risk of having a baby with other neural tube defects in addition to anencephaly, such as spina bifida. Pregnant women can minimize this risk with folic acid supplements or diet changes.

If you’ve had an infant with anencephaly, your chance of having a second baby with the same condition or a different neural tube defect increases by 4 to 10 percent. Two previous pregnancies affected by anencephaly increase the recurrence rate to about 10 to 13 percent.

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