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Anencephaly

Definition

Anencephaly is the absence of a large part of the brain and the skull.

Alternative Names

Aprosencephaly with open cranium

Causes

Anencephaly is one of the most common neural tube defects. Neural tube defects are birth defects that affect the tissue that grows into the spinal cord and brain.

Anencephaly occurs early in the development of an unborn baby. It results when the upper part of the neural tube fails to close. Why this happens is not known. Possible causes include environmental toxins and low intake of folic acid by the mother during pregnancy.

Anencephaly occurs in about 1 out of 10,000 births. The exact number is unknown, because many of these pregnancies result in miscarriage. Having one infant with this condition increases the risk of having another child with neural tube defects.

Symptoms

• Absence of the skull
• Absence of the brain (cerebral hemispheres and cerebellum)
• Facial feature abnormalities
• Heart defects

Exams and Tests

A pregnancy ultrasound is done to confirm the diagnosis. The ultrasound may reveal too much fluid is in the uterus. This condition is called polyhydramnios.

Other tests that may be done on the pregnant mother:

• Amniocentesis (to look for increased levels of alpha-fetoprotein)
• Alpha-fetoprotein level (increased levels suggest a neural tube defect)
• Urine estriol level

A pre-pregnancy serum folic acid test may also be done.

Treatment

There is no current therapy. Talk to your doctor about care decisions.

Outlook (Prognosis)

This condition usually causes death within a few days.

When to Contact a Medical Professional

A health care provider usually detects this condition during routine prenatal testing and ultrasound. Otherwise, it is recognized at birth.

If anencephaly is detected before birth, further counseling will be needed.

Prevention

It is important for women who may become pregnant to get enough folic acid.

There is good evidence that folic acid can help reduce the risk of certain birth defects, including anencephaly. Women who are pregnant or planning to become pregnant should take a multivitamin with folic acid every day. Many foods are now fortified with folic acid to help prevent these kinds of birth defects.

Getting enough folic acid can reduce the chance of neural tube defects by 50 percent.

For specific recommendations, see folic acid (folate).

References

Kinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 592.

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