Testing & Diagnosis for Anencephaly in Children

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Contact the Department of Neurology


How is anencephaly diagnosed?

The diagnosis of anencephaly may be made during pregnancy or at birth by physical examination. Your baby's head might appear flattened due to the abnormal brain development and missing bones of the skull.

Diagnostic tests performed during pregnancy to evaluate your baby for anencephaly include:

  • alpha–fetoprotein - a protein produced by the fetus that is excreted into the amniotic fluid.
  • amniocentesis- a test performed to determine chromosomal and genetic disorders and certain birth defects
  • ultrasound- a diagnostic imaging technique that uses high-frequency sound waves and a computer to create images of blood vessels, tissues and organs
  • blood tests
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