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Anencephaly - Symptom

Alternative Names

Aprosencephaly with open cranium

Symptoms:

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

Signs 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.

Ultrasound, normal fetus - ventricles of brain

Reviewed last on: 7/26/2007
Daniel Rauch, M.D., FAAP., Director, Pediatric Hospitalist Program, New York University School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network.

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Anencephaly - Symptom

Alternative Names

Symptoms:

Signs and tests: