After birth, severe cases of HPE may be diagnosed based on the child's signs and symptoms. In severe cases, characteristic features, such as a small head and facial malformations, are apparent.
In less severe cases, such as lobar HPE, a magnetic resonance imaging (MRI) scan or computerized tomography (CT) scan is performed to confirm a diagnosis. During this non-invasive procedure, a machine takes a picture of the child's brain. This allows the doctor to see if the brain's hemispheres have divided properly. If the hemispheres have not completely divided, HPE may be diagnosed.
Molecular testing is also available to detect genetic abnormalities associated with HPE.
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