Prenatal diagnosis of an epignathus associated with a 49, XXXXY karyotype – a case report

Aims: An epignathus is a rare form of congenital teratoma, originating from the base of the skull,most commonly the hard palate,or mandible.It has been associated with a poor prognosis due to complications including polyhydramnios and respiratory compromise at birth as a consequence of upper airway obstructions.It is usually not associated with chromosomal aberrations.We present a case of prenatal diagnosed epignathus associated with a gonosomal pentasomy 49,XXXXY.

Case: A I-Gravida,0-Para was referred to our unit with a suspected gastroschisis at 26+6 weeks gestation. Performed detailed ultasound scan revealed a large mixed echogenic mass seen in continuation with the mouth in the midline. Due to the appearance an epignathus was suspected.No other fetal anomalies were detected. Karyotyping showed a 49,XXXXY karyotype of the fetus.The couple decided to carry the pregnancy on after detailed counselling about the result. A caesarean section was necessary and performed at 29+0 weeks gestation due to a pathological Doppler and CTG.Because of the enormous epignathus intubation of the newborn was not possible. A tracheostomy was performed for ventilation and oxygenation, which failed and the newborn died 30min. after birth.

Conclusion: Prenatal diagnosis by ultrasound has improved perinatal management.This should include as well in this case the assessment of the tumor size and spread in order to establish an accurate prognosis as well as to anticipate likely problems which have to be encountered during pregnancy or at the time of delivery.To our knowledge this is the first reported case of an prenatal diagnosed epignathus with a pentasomy 49,XXXXY.