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Anencephaly is a severe, fatal neural tube defect occurring when the neural tube fails to close (usually 23–26 days after conception), resulting in the absence of a major portion of the brain, skull, and scalp. This lethal condition occurs in approximately 1 in 4,600 to 10,000 U.S. births, often resulting in miscarriage or death within hours/days of birth. 

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Key Aspects of Anencephaly:

 

  • Diagnosis: Detected via ultrasound as early as the first trimester, or by high alpha-fetoprotein levels.
  • Physical Features: Absence of the cerebrum/cerebellum (responsible for thinking, movement, senses) and overlying bone/skin.
  • Prognosis: The condition is universally fatal, as babies are not viable.
  • Causes/Prevention: While exact causes are unknown, it is linked to genetic and environmental factors. Taking 0.4–0.8 mg of folic acid daily before and during early pregnancy can significantly reduce the risk.
  • Support: Immediate bereavement counseling and support groups are highly recommended for families.
Specimen Number
13