Cystic hygroma as an early first-trimester ultrasound marker for recurrent Fryns' syndrome

Abstract

We present a case of a fetus who at a 12-week ultrasound examination was shown to have a large cystic hygroma. Fryns' syndrome was suspected because the mother's previous pregnancy had been affected by the condition. Pathological examination confirmed the diagnosis at this early stage of gestation. In families with increased risk for Fryns' syndrome, first-trimester ultrasound screening should be offered to exclude cystic hygroma as an ultrasound marker for this most often lethal malformation.