Prenatal Diagnosis, Management and Outcomes of Skeletal Dysplasia

Abstract

Objective: To evaluate prenatal ultrasound findings of Skeletal Dysplasia (SD) and examine the contribution of radiological, histological and genetic exams. Methods: Retrospective study including all cases of SD managed in a tertiary maternity center between 1996 and 2010. Results: Eight cases of SD were diagnosed (1.4/10,000 births) by ultrasonography (USE). Three (38%) cases of SD were discovered in the first trimester, and five in the second trimester. We found short femurs in all cases. Anomalies consisted of the thickness of the femoral diaphysis, broad epiphysis, short and squat long bones, costal fractures, thinned coasts, anomalies of the profile and vertebrae, and a short and narrow thorax. Associated anomalies consisted of ventriculomegaly, hygroma, hydramnios, and thick nuchal fold. We found mutations of the FGFR3 gene in achondroplasia, of the Delta 8/7 sterol isomerase in a case of chondrodysplasia punctata and deletion of the DTSDT gene in a case of IB achondrogenesis. USE diagnosed the type of SD in 6 cases. Five patients underwent termination, and 3 were delivered by cesarean section. Skeletal radiography or fetal autopsy confirmed the bone anomalies and the type of SD. Final diagnoses included 4 cases of osteogenesis imperfecta, 2 cases of achondroplasia,1 case of IB achondrogenesis and 1 case of punctata chondrodysplasia. Conclusion: USE allowed the prenatal diagnosis of SD since the first trimester and, in most cases, identified the type of SD. Skeletal radiography, genetic testing, or fetal autopsy in cases of termination confirmed the diagnosis and type of SD. USE diagnosed the type of SD in 6 cases. Five patients underwent termination, and 3 were delivered by cesarean section. Skeletal radiography or fetal autopsy confirmed the bone anomalies and the type of SD. Final diagnoses included 4 cases of osteogenesis imperfecta, 2 cases of achondroplasia, 1 case of IB achondrogenesis and 1 case of punctata chondrodysplasia.