Genetic Testing

A couple of months ago we took Cayla to the Genetic Services at Rockingham Hospital to find out a possible genetic cause for her Polymicrogyria (PMG). This involved a consultation with a clinical geneticist and a simple blood test. He looked for evidence of congenital infection which may have caused the changes to her brain during the second trimester. The results showed no exposure to any of the main viruses such as CMV, rubella, herpes simplex and toxoplasmosis. This makes it highly unlikely that a congenital infection was the cause to the PMG. He also tested for abnormalities of Cayla’s chromosomes, a test known as chromosome microarray. This test did not reveal any abnormalities of her chromosomes and therefore rules out being the cause of the PMG.
So even though there is no explanation to why this has happened to her it is good news to have ruled out some of the main causes associated with a poor prognosis. Also the geneticist didn’t find an overt inheritable syndrome which means that the risk for Cayla to pass it on to her children in the future is very low. Great to have had her tested and pleased with the results :) We have now checked all the things that we are or have been worried about since her MRI results back in August last year; hearing and vision, EEG test for possible epilepsy activity and finally genetic testing. All have come back normal.

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3 thoughts on “Genetic Testing

  1. Cayla is soooo brave going through tonnes of blood tests, injections, casts and other therapies and she is always smiling, she’s incredible!! Xxx

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