children s health issues
Osteogenesis Imperfecta
Diagnosis of Osteogenesis Imperfecta
Before birth, prenatal ultrasonography After birth, a doctor's evaluation Sometimes analysis of cells or genetic testing Before birth, the most severe and lethal form of osteogenesis imperfecta can be detected in pregnant women by an Ultrasonography . After birth, doctors base the diagnosis of osteogenesis imperfecta on the symptoms and on a physical examination. If the diagnosis is not clear, doctors may remove a sample of skin for examination under a microscope (biopsy) to analyze a type of connective tissue cell (fibroblasts) or they may take a sample of blood to analyze certain genes. X-rays may show abnormal bone structures that suggest osteogenesis imperfecta. A test called Testing is done often throughout childhood to monitor hearing. 