title: Prenatal diagnosis of skeletal dysplasias: contribution of three-dimensional computed tomography.
abstract: 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 pre- or postnatally.
  
  
  CONCLUSIONS
  Prenatal 3D-CT contributed to the diagnosis of the specific fetal SD in the majority of these cases. 3D-CT may have a complementary role to US where fetal SD is suspected, but no specific diagnosis can be made using US alone. Further studies on clinical performance and risk-benefit analysis are needed.
authors.affiliation: Department of Radiology, Hospital Italiano de Buenos Aires, Universidad de Buenos Aires, Argentina. marina.ulla @ hospitalitaliano.org.ar
authors.forename: Marina
authors.initials: M
authors.lastname: Ulla
authors.forename: Horacio
authors.initials: H
authors.lastname: Aiello
authors.forename: María Paz
authors.initials: MP
authors.lastname: Cobos
authors.forename: Iêda
authors.initials: I
authors.lastname: Orioli
authors.forename: Ricardo
authors.initials: R
authors.lastname: García-Mónaco
authors.forename: Adolfo
authors.initials: A
authors.lastname: Etchegaray
authors.forename: María Laura
authors.initials: ML
authors.lastname: Igarzábal
authors.forename: Lucas
authors.initials: L
authors.lastname: Otaño
mesh_terms: D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000196:embryology; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014057:Tomography, X-Ray Computed