Presentation
Observed fetal head abnormalities on ultrasound scan referred for a second opinion and 4D ultrasound
Patient Data
Age: 30 years
Gender: Female
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_pin":false},"extraPropsURL":"/studies/97041/annotated_viewer_json?lang=us"}
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:
-
acrania
- completely or partially absent fetal skull
- flat bones in the cranial vault
- brain tissue and cerebrum develop completely unlike anencephaly
-
exencephaly
- absent cranial vault
- skull base and fascial structure are present
- remaining brain tissue is seen floating freely in amniotic fluid