Skeletal Dysplasia

Abstract

ABSTRACT The word dysplasia originates from the ancient Greek words dys (anomalous) and plasia (formation). Skeletal dysplasia (SD) is a heterogeneous group of congenital anomalies characterized by abnormalities in the development of bone and cartilage tissues. These diseases may present either in the form of isolated findings or a phenotypic manifestation of a chromosomal aberration or a genetic disorder. Prenatal diagnosis is mainly on the ultrasonographic appearance, which is usually achieved during the second trimester of pregnancy. Two-dimensional ultrasonography may detect the majority of SD, however, difficulties in the diagnosis as well as the differential diagnosis are frequently arising. In such cases, further evaluation is needed by the use of additional imaging modalities or by invasive procedures, in order to detect an underlying chromosomal abnormality or a single gene disorder. Accurate diagnosis is crucial in order to establish successful genetic counseling as well as appropriate case management. This approach includes the use of three-dimensional ultrasonography and three-dimensional computed tomography; whereas fetal magnetic resonance imaging is less important. These new imaging modalities have an important role in the prenatal multidisciplinary approach of the diagnosis of SD. Despite the indisputable progress that has been achieved during the last few years, in some cases, the antenatal detection of SD delays and is feasible only at the late second or even third trimester. Thus, important ethical and medical issues arise in the antenatal management and counseling of these pregnancies, particularly in the case of lethal SD.