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 |  |  |  | Medical Health Encyclopedia |  | Alternative Names:
Aprosencephaly with open cranium Symptoms:
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.
In the infant:
- Absence of the skull
- Absence of the brain (cerebral hemispheres and cerebellum)
- Facial feature abnormalities
- Heart defects
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Signs and tests:
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
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