Thanatophoric dysplasia: Role of 3‐dimensional sonography

Abstract

Fetal thanatophoric dysplasia (TD) is a lethal skeletal dysplasia. Therefore, antenatal diagnosis of TD is mandatory in routine obstetrical care. However, because TD is relatively rare, prenatal detection is not an easy task. In the past, 2-dimensional (2D) sonography had been applied as the mainstay of prenatal diagnosis of TD. In this series, we report our work of detecting TD using 3-dimensional (3D) sonography. We reviewed our computer database of prenatal diagnosis of TD in National Cheng Kung University Hospital from May 1995 to June 2006. All the cases were scanned using 2D and 3D sonography. In total, 9 cases of fetal TD were diagnosed. 3D sonography can detect fetal TD and provide additional vivid illustration after various modes of reconstruction that 2D sonography cannot afford. 3D sonography may contribute significantly to the detection of TD in utero and provide a novel visual depiction of this defect after reconstruction. Thus, 3D sonography may assist substantially in prenatal diagnosis as well as consultation.