Anencephaly

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Ultrasound, normal fetus - ventricles of brain

Aprosencephaly with open cranium

In the mother:

• If there is too much fluid is in the uterus, this often suggests a problem with the pregnancy. This condition, called polyhydramnios, is seen before birth.

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

The following tests can help identify anencephaly:

• Prepregnancy serum folic acid test
• Amniocentesis (done on the mother to determine if increased levels of alpha-fetoprotein are present)
• Alpha-fetoprotein levels during pregnancy (increased levels suggest a neural tube defect)
• Urine estriol levels during pregnancy
• Ultrasound to confirm the diagnosis

Review Date: 08/23/2005
Reviewed By: John Goldenring, MD, MPH, Department of Pediatrics, Children's Hospital, San Diego, CA. Review provided by VeriMed Healthcare Network.