How is Apert syndrome diagnosed?

How is Apert syndrome diagnosed?

Diagnosis of Apert syndrome normally occurs after the child is born, but an early diagnosis is possible during pregnancy with a prenatal 2D or 3D ultrasound or MRI to track your baby’s skeletal development. Your child’s healthcare provider will provide a physical examination to identify any abnormalities to their body. Secondary testing, using imaging tests like a CT scan or an MRI, will detect any physical abnormalities present once the child is born (congenital defects). Your healthcare provider will also recommend genetic testing, looking for a mutation of the FGFR2 gene, to confirm the diagnosis. Your baby will still receive regular newborn screenings, with emphasis on a hearing test to check for hearing impairment caused by the condition.