The Method of the Three-dimensional Ultrasonography in the Prenatal Diagnosis of Skeletal Dysplasias

Abstract

SUMMARY The prenatal diagnosis of skeletal dysplasias is a challenging task due to the varied manifestations of the phenotypic abnormalities and the great number of possible diagnoses. The skeletal dysplasias constitute of a heterogeneous group of abnormalities in the development of the skeleton, with more than 100 types being recognized clinically and radiologically different. The objective of this article is to describe the methodological bases of three-dimensional ultrasonography and their applications in Obstetrics, with emphasis on the pre-natal diagnosis of the fetal skeletal dysplasias. Three-dimensional ultrasonography (USG-3D) is a method that creates the possibility of obtaining three-dimensional images from the acquisition of ultrasonographic data of a volume of the insonated structure. It is important to point out that the contribution of USG-3D is not limited to the prenatal diagnosis of skeletal anomalies. A lot of phenotypic abnormalities that can be observed in neo-natal clinical exams are potentially detected by the USG-3D intra-uterus, which could provide an effective contribution to prenatal and obstetric assistance. The possibility of three-dimensional visualization of the fetal face allows the perception of important phenotypic facial details for the characterization of nosological groups. Therefore, the method contributes concretely with the pre-natal diagnosis of fetal anomalies. DESCRIPTORS Diagnoses Methods. Methodology. Prenatal diagnosis. Ultrasonography Skeletal Dysplasias.