Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

Cystic kidney disease is an inherited condition that can present before birth, using antenatal ultrasound scanning. The finding of cystic kidney disease is important as it can be associated with other developmental problems affecting the brain, heart and skeleton. The genetic changes underlying cystic kidney disease are numerous. Here we have used a panel of genetic tests in order to provide a rapid genetic diagnosis in 46 cases of antenatal cystic kidney disease, with a genetic cause being found in 28 cases (60%). A genetic diagnosis aids management of the patient and allows genetic counselling to be given. (By Dr. John Sayer, http://jmg.bmj.com/content/early/2016/02/09/jmedgenet-2015-103469 )

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antenatal ultrasound of kidneys showing very abnormal cystic change within both kidneys

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