Prenatal diagnosis of skeletal dysplasias

Abstract

The skeletal dysplasias are a group of developmental disorders osteocartilaginous, and may cause structural changes lethal in utero or shortly after birth. The prenatal evaluation is complex, being the primary diagnosis made by the ultrasound examination. The main parameters to be evaluated to establish the prenatal diagnosis of bone dysplasia are: the degree of disproportion and bone shortening, biometric relations, study of the fetal thorax, characteristic facial appearance, morphology of long bones, bone mineralization, amniotic fluid volume and gestational age. Dysplasia thanatophoric, achondrogenesis, osteogenesis imperfecta, and achondroplasia are the most frequent type of bone dysplasia. The difficulties of prenatal diagnosis of these diseases require the need for a multidisciplinary approach to better diagnosis and management of each case. Even though failure to reach an accurate diagnosis is essential that the evaluation of fetal prognosis is estimated.