Anencephally (4D ultrasound)

Case contributed by Dr Ahmed Esawy

Presentation

Observed fetal head abnormalities on ultrasound scan referred for a second opinion and 4D ultrasound

Patient Data

Age: 30 years
Gender: Female

Antenatal scan

Ultrasound

Absence of the cranial vault, brain tissue can be seen, cerebral hemispheres are above orbital level, and irregular head shape. The face has eyes with “frog-like appearance”. Features are consistent with anencephaly. 

Case Discussion

A case of anencephaly, the most common neural tube defect diagnosed antenatally. 

Differential diagnosis includes:

  1. acrania
    • completely or partially absent fetal skull
    • flat bones in the cranial vault
    • brain tissue and cerebrum develop completely unlike anencephaly
  2. exencephaly  
    • absent cranial vault
    • skull base and fascial structure are present                          
    • remaining brain tissue is seen floating freely in amniotic fluid

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