title: Skeletal anomalies.
abstract: It is possible to identify many types of skeletal dysplasias and conditions involving limb deformities prenatally using ultrasound. It is likely that in the future, with the advancing technology and discoveries in molecular genetics, specific mutation analysis will become available for many of these conditions. This will make first trimester diagnosis an option in many cases. Because of the complex nature of many of these cases, it may be helpful to use a multidisciplinary approach involving a radiologist and a geneticist at times. In utero radiographs may help clarify a diagnosis. In lethal cases where a specific diagnosis has not been confirmed, it may be helpful postpartum to obtain an autopsy; photographs; complete body radiographs; karyotypic analysis; and specimens of bone, cartilage, and fetal blood for further analysis.
authors.affiliation: Departments of Obstetrics and Gynecology, University of Colorado Health Sciences Center, Denver, Colorado, USA.
authors.forename: L
authors.initials: L
authors.lastname: Dugoff
authors.forename: G
authors.initials: G
authors.lastname: Thieme
authors.forename: J C
authors.initials: JC
authors.lastname: Hobbins
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging* / Q000628:therapy; D011379:Prognosis; D016216:Ultrasonography, Prenatal