Use of three-dimensional ultrasound to establish the prenatal diagnosis of Fryns syndrome

Abstract

Three-dimensional (3D) imaging permits surface reconstructions that allow a better view of the appearance of organs. We report a case of a fetus with cystic hygroma diagnosed at 11 weeks of gestation, associated with a diaphragmatic hernia. With the 3D reconstruction, we examined the fetal face much more easily, which presented facial dysmorphology, retrognathia, macrostomia and a broad nasal bridge. The conjunctions of these pathological features and a normal karyotype allowed to establish a prenatal diagnosis of Fryns syndrome, confirmed by autopsy.