Ultrasonographic diagnosis of glossoptosis in fetuses with Pierre Robin sequence in early and mid pregnancy

Objective This study was undertaken to describe the sonographic features of fetal glossoptosis in the Pierre Robin sequence. Study design Fetal sonography was prospectively performed in 8000 consecutive pregnancies at 14 to 24 weeksʹ gestation. In addition we retrospectively reevaluated ultrasound recordings of 4 fetuses from other hospitals, in which the diagnosis of Pierre Robin sequence was overlooked at 22 weeksʹ gestation. Glossoptosis was defined as a posteriorly displaced tongue that never reached the anterior mandibular alveolar ridge while watching the fetal profile. Micrognathia, which is a component of the sequence, was subjectively defined. Results Glossoptosis with micrognathia was detected in 2 fetuses in the prospective group at 14 and 15 weeksʹ gestation. Both pregnancies were terminated; the diagnosis was confirmed in 1 case where postmortem examination was performed. There were no false-negative diagnoses in the other 7.998 fetuses. Glossoptosis and micrognathia were observed in the 4 retrospective cases. Conclusion Sonographic identification of glossoptosis with fetal micrognathia suggests the possibility of Pierre Robin sequence.