ABSTRACT

A 41-year-old woman, gravida 6 para 3, was referred to hospital in the second trimester for genetic amniocentesis. She and her husband were non-consanguineous and healthy. There was no family history of congenital malformations. She did not have teratogenic medication, recent infection, diabetes mellitus, or hypertension during this pregnancy. Her previous pregnancies resulted in two miscarriages and uneventful deliveries of three healthy children. Amniocentesis revealed a 46,XY karyotype in this pregnancy. A detailed two-dimensional (2D) ultrasound examination at 17 weeks' gestation revealed a single live fetus with a biparietal diameter of 3.4 cm (equivalent to 16 weeks' gestation), an abdominal circumference of 13.1 cm (equivalent to 18 weeks' gestation), a femur length of 2.1 cm (equivalent to 16 weeks' gestation), a normal amniotic fluid index of 16.8 cm, and a giant mixed echogenic mass measuring 8.1 × 4.8 × 7.1 cm in the left face in continuation with the skull. The intracranial structures were intact. Doppler flow study showed a high-volume and high-velocity flow within the tumor. Echocardiography was normal. The left orbit was absent. The nose and mouth were difficult to identify. There was no fetal head movement. Three-dimensional (3D) ultrasound displayed a giant left facial mass ( Figure 1a). 3D color power angiography showed that the large facial tumor parasitized blood supply from the fetal circulation. A tentative diagnosis of epignathus was made. The woman opted for termination of the pregnancy. A 372-g male fetus with epignathus was delivered (Figures 1b and 2a). Autopsy revealed a teratoma arising from the palate without involving the skull and brain. Cytogenetic analysis of the teratoma revealed a 46,XY karyotype. Multiple transectional skull computed tomography scans showed intralesional calcification and an intact skull. Magnetic resonance imaging scans showed a giant facial mass distorting the skull and brain structures (Figure 2b).An epignathus is a rare teratoma of the oropharynx with an incidence between 1 in 35 000 and 1 in 200 000 live births 1 . The majority of epignathi originate from the base of the skull in the posterior nasopharynx and usually involve the hard palate or sphenoid bone 2 . Cleft palate and bifid tongue or nose may be present 3 . A few epignathus teratomas have been associated with chromosome aberrations, such as 45,X/46,X,r(X) mosaicism 3 , trisomy 13 4 , duplication of 1q and 19p 5 , and inverted proximal 1q duplication 3 . Prenatal diagnosis of epignathi by 2D ultrasound has been well documented 1 -16 . However, to our knowledge, 3D ultrasound demonstration of an epignathus has not yet been described. The 2D ultrasound features of epignathi include a mass projecting from the oral cavity, a mass adjacent to the face with or without intracranial extension, polyhydramnios, and hydrops fetalis. Fetal prognosis depends on the extent of the neighboring tissue involvement and the size of the tumor. Fetuses with a bidirectional epignathus invading the intracranial struct...

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