Thanatophoric dysplasia

the value of 3d and 4d ultrasonography

Abstract

OBJECTIVES: To revise the literature concerning the ultrasonographic diagnosis of dysplasia thanatophoric and its implications. METHODOLOGY: We searched PubMed with the following keywords ultrasound, thanatophoric dysplasia, and diagnosis. The following filters were used: humans, English, Spanish and Portuguese. We selected nine articles to compose this review from the 161 retrieved. Data presented in Orphanet were used too. RESULTS: The main features of Thanatophoric Dysplasia (TD) at ultrasound are: cloverleaf skull (TD2), abdomen bell-shaped (TD1 and TD2), short femurs and “telephone receiver” femurs (TD1) among others. Trident-shaped hands, platyspondyly, and short ribs are difficult to diagnose at 2D ultrasound, however, with the advent of 3D, 4D, and the high-resolution ultrasonography (HD live software), the main features of TD that were already reported got easier to be identified allowing more accurate differentiation from other skeletal dysplasias. CONCLUSION: The high-resolution ultrasound has a great capacity to sharpen the image and, thus, allow a more accurate assessment of the fetal anatomic structures in the early 2nd trimester. This advantage implies a better management in pregnancies that a fetal anomaly is suspected, such as thanatophoric dysplasia.