Diagnosis and management of skeletal dysplasias

The prenatal diagnosis of skeletal dysplasias is a challenging task due to the varied manifestations of the disorders and the great number of possible diagnoses. This difficulty will likely remain until DNA mutations are identified that will permit a specific diagnosis. Until then, the use of a multidisciplinary team is suggested for clinical diagnosis and management. Use of a systematic approach to diagnosis such as our "10-step" system is a valuable tool to decrease the complexity of the diagnostic process. Even if it does not lead to a specific diagnosis, it allows one to predict the likelihood of a severe or lethal disorder. A cautious approach to prenatal diagnosis of skeletal dysplasias is warranted due to the uncertainties inherent in clinical diagnosis of these disorders. Until specific DNA testing or rapid collagen analysis are available for the more common defects, errors in diagnosis and counseling that follow may result in termination of normal fetuses and, conversely, in continuation of pregnancies with lethal anomalies or severely affected fetuses.