Osteogenesis Imperfecta and Fetuses in Utero with Bowed Bones and Fractures

Osteogenesis imperfecta (OI) is an inherited brittle bone disorder that varies in clinical severity from mild to lethal forms.  The mutation generally occurs in type one collagen genes (COL1A1 and COL1A2), and it can be confirmed by molecular testing.  The goal of this project is to discover which combinations of clinical signs of the mutation are most likely to yield positive results for a mutation in COL1A1 or COL1A2, and to develop guidelines which could be used by physicians when diagnosing OI with in utero fetuses.  The data for this study is being collected from in utero cases submitted to the University of Washington Collagen Diagnostic Lab from around the world.  Currently, based on the limited data already collected, multiple fractures, bowed bones, and shortened long bones appear to be the most common signs present in individuals with type one collagen mutations.  In this study, I will tabulate the multiple signs of OI from patient data organized by the signs shown on ultrasound previous to genetic testing (ex: shortened long bones, bowed bones, multiple fractures, etc.), and the results of genetic testing.  With this information, it will be easier for doctors and genetic counselors to recognize cases of OI in fetuses and determine when the appropriate genetic testing is required. The findings in this study will make it easier for care to be administered to the fetuses and family members dealing with osteogenesis imperfecta.