Thanatophoric dysplasia: Role of 3‐dimensional sonography

Abstract

Purpose. 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.Methods. 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.Results. 3D sonography can detect fetal TD and provide additional vivid illustration after various modes of reconstruction that 2D sonography cannot afford.Conclusion. 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.

Three‐dimensional ultrasound imaging of the fetal skull and face

“…3D-US is complementary to 2D-US, but more accurate in demonstrating subtle facial features and for measuring distances, angles and sizes in defined anatomical planes. Several authors suggest that 3D-US improves the accuracy of prenatal diagnosis of skeletal disorders [67][68][69][70]73 .…”

“…Many other 3D-US studies have described various features of the fetal cranium, both normal and abnormal 5,6,[62][63][64][65][66] . Any decision to use 3D-US for bone imaging should be based on its potential diagnostic value, and some investigators have reported improved characterization of fetal bone disorders [67][68][69][70] .…”

Prenatal diagnosis of fetal thanatophoric dysplasia type 1 with de novo c.2419T > G (p. Ter807Gly) (X807G) gene mutation in fibroblast growth factor receptor 3 (FGFR3) showing increased nuchal translucency at the first trimester of gestation: A case report with review of the literature

“…Thanatophoric dysplasia (TD) is the most common lethal form of skeletal dysplasias in fetuses and the affected neonates usually die shortly after birth [1]. The term thanatophoric in Greek means ''death bearing'' [2].…”

Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia

“…Although this specific feature is well known in the pathology literature, an awareness of the sonographic appearance of TLD on prenatal ultrasound is limited as compared with the better known musculoskeletal features. Recent publications and clinical practice guidelines have failed to discuss TLD as a potential diagnostic marker for TD. Given that the current prenatal diagnostic accuracy of TD ranges from 40% to 87.5%, detection of TLD on prenatal ultrasound could provide added specificity in patient counseling and guide molecular investigations.…”