Diagnosis and counseling of thanatophoric dysplasia with four-dimensional ultrasound

Abstract

Thanatophoric dysplasia is a severe skeletal disorder with estimated frequency of 0.2–0.5 per 10,000 births. Affected infants die shortly after birth. The diagnosis of thanatophoric dysplasia can be made by two-dimensional ultrasound but the perception of these images is very difficult for the patients. The use of four-dimensional real time ultrasound gives the physician the possibility to discuss and counsel the patients with images that are more understandable to the general public.