Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases

Abstract

Skeletal dysplasias are a heterogeneous group of conditions associated with various abnormalities of the skeleton. These conditions are caused by widespread disturbance of bone growth, beginning during the early stages of fetal development and evolving throughout life. Despite recent advances in imaging, fetal skeletal dysplasias are difficult to diagnose in utero due to a number of factors, including the large number of skeletal dysplasias and their phenotypic variability with overlapping features, lack of precise molecular diagnosis for many disorders, lack of a systematic approach, the inability of ultrasonography (US) to provide an integrated view, and variability in the time at which findings manifest in some skeletal dysplasias. US of suspected skeletal dysplasia involves systematic imaging of the long bones, thorax, hands and feet, skull, spine, and pelvis. Assessment of the fetus with three-dimensional US has been shown to improve diagnostic accuracy, since additional phenotypic features not detectable at two-dimensional US may be identified. The radiologist plays a major role in making an accurate diagnosis; however, representatives of other disciplines, including clinicians, molecular biologists, and pathologists, can also provide important diagnostic information.