Early diagnosis of developmental disorders in children

Children affected with developmental disorders (developmental delay, intellectual disability, and/or congenital anomalies) face lifelong challenges. Establishing an underlying diagnosis early has the potential to reduce health-care costs. It also can provide physicians and families with information about the disorder affecting the child, prognosis, and comorbidity, all of which have implications beyond medical treatment. On average, diagnosis of developmental disability in children does not occur until they have reached the age of four. The first report of CytoScan Dx Assay performance in a consecutive cohort of such patients has revealed an incremental 9.4% diagnostic yield in patients where chromosomal microarray (CMA) was not previously used as routine patient care (RPC). The study was conducted by a collaborative team of researchers, clinicians, and cytogeneticists.

In this first study to assess the clinical performance of CytoScan Dx Assay, 35% of patients with abnormal findings were predicted to have clinical management implications that may improve health outcomes.

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