Prenatal diagnosis of lethal osteogenesis imperfecta (OI) by ultrasonography

Abstract

Ultrasonography was performed during the second trimester (17 weeks) in a pregnancy at risk for osteogenesis imperfecta congenita (OI). The scan showed that the femur was short, bent and dense. Radiologic examination of the fetus after interruption of pregnancy showed typical X-ray changes of OI.