anencephaly
Severe neural tube defect characterized by absence of major portions of the brain and skull.
Full Definition
Anencephaly is a fatal neural tube defect occurring when the neural tube fails to close at the cranial end during early embryonic development. The condition is characterized by absence of the cerebral hemispheres, cerebellum, and cranial vault, with only a rudimentary brainstem present. Anencephaly is incompatible with life, with most affected infants dying within hours or days of birth. The condition can be detected by elevated maternal serum alpha-fetoprotein levels and confirmed by ultrasound examination.
Usage
Usage note: Always lowercase unless beginning sentence. Fatal condition requiring sensitive communication.
In Context
- "Ultrasound examination at 16 weeks revealed anencephaly with absence of the cranial vault." — Anomaly scan report
- "The diagnosis of anencephaly prompted counseling regarding pregnancy management options." — Clinical consultation notes