How to diagnose Schizencephaly ?
Is genetic testing available for schizencephaly? In rare cases, people affected by schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Genetic testing is available for these families. How is schizencephaly diagnosed? Schizencephaly is typically diagnosed by computed tomography (CT) and/or magnetic resonance imaging (MRI). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities such as the slits or clefts found in people with schizencephaly. In some cases, schizencephaly can also be diagnosed prenatally (before birth) on ultrasound after 20 weeks gestation. If clefting is seen on ultrasound, an MRI scan of the developing baby may be recommended to confirm the diagnosis.