Prenatal Diagnosis of Skeletal Dysplasias: Contribution of Three-Dimensional Computed Tomography

Objective: To describe the contribution of 3-dimensional computed tomography (3D-CT) in the prenatal diagnosis of skeletal dysplasias (SD) in a cohort of patients with inconclusive diagnosis by ultrasound (US). Methods: Between May 2007 and February 2010, six pregnant women with suspected fetal SD on US examination but with no specific diagnosis were studied with 3D-CT. The images were evaluated by a multidisciplinary team who proposed a likely diagnosis. Further postnatal workup included clinical and radiological evaluation in all cases. Prenatal and postnatal diagnoses were compared. Results: The use of 3D-CT provided a precise diagnosis confirmed postnatally in 5/6 patients. These included osteogenesis imperfecta type II (n = 2), osteogenesis imperfecta type III (n = 1), chondrodysplasia punctata (n = 1) and thanatophoric dysplasia type I (n = 1). A precise diagnosis could not be made in 1 case – either preor postReceived: June 28, 2010 Accepted after revision: October 20, 2010 Published online: January 4, 2011 Marina Ulla Department of Radiology, Hospital Italiano de Buenos Aires Gascón 450 Buenos Aires 1131 (Argentina) Tel./Fax +54 11 4959 0453, E-Mail marina.ulla @ hospitalitaliano.org.ar © 2011 S. Karger AG, Basel 1015–3837/11/0293–0238$38.00/0 Accessible online at: www.karger.com/fdt D ow nl oa de d by : 54 .1 91 .4 0. 80 9 /1 6/ 20 17 8 :2 7: 49 P M