Epignathus: Prenatal diagnosis by sonography and magnetic resonance imaging

Prenatal diagnosis of a teratoma of the oral cavity (epignathus) is present ed using ultrasonography and magnetic resonance imaging as complementary te chniques. Chromosome analysis from amniotic fluid revealed an inverted dupl ication of chromosome 1 that was confined to the tumour, whereas the consti tutional karyotype was normal. The development of polyhydramnios, presumabl y reflecting impaired fetal swallowing, led to premature rupture of membran es and spontaneous delivery at 23 + 4 weeks of pregnancy. The premature neo nate succumbed to acute respiratory distress secondary to airway obstructio n by the tumour, and died immediately after birth.