Two‐ and three‐dimensional ultrasound demonstration of a giant epignathus

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...

Prenatal diagnosis and management of fetal pharyngeal teratoma: A case report and review of the literature

“…Three-dimensional power Doppler imaging demonstrating the vasculature of the tumor has been reported previously. 8 Sonographic findings include polyhydramnios, which is seen in approximately 20-30% of cases, and inability to identify the fetal stomach due to impaired swallowing. 1,9 Clefting can also occur from the prevention of fusion of the palatal processes.…”

First-Trimester Diagnosis of Fetal Epignathus With 2- and 3-Dimensional Sonography

“…The use of 3D sonography before mid gestation was reported to assist patients in making decisions about pregnancy continuation. 16,17 Three-dimensional rendering of the fetal facial surface has been previously shown to be feasible from 10 weeks' gestation. 18 However, one of the major pitfalls of acquiring a 3D volume in the first trimester is fetal movements, leading to inadequate volume rendering.…”

Epignathus: Reporte De Un Caso Y Revisión De La Literatura

“…Estudios de citogenética han demostrado que el tumor tiene idéntico cariotipo al fetal lo que apoya al origen mitótico de una célula diploide totipotencial, solo se han reportado cuatro casos de asociación con aberraciones cromosómicas como 45,X/46,X,r(X) mosaicismo, trisomía 13 y duplicación del 1q y 19p e inversión proximal de 1q (11). No son de herencia mendeliana ni poligénica, tampoco hay evidencia que se produzcan por factores del medio ambiente.…”

“…La ecografía tridimesional apoya en la investigación prenatal ofreciendo imágenes más comprensibles sobre el sitio del tumor y sus dependencias; mientras que el Doppler color evalúa el flujo sanguíneo entre el tumor y la circulación fetal, así como la presencia de cortocircuitos arterio-venosos que podrían desencadenar insuficiencia cardíaca del alto volumen (11). La resonancia nuclear magnética ofrece una mejor visualización de los planos anatómicos así como una mayor resolución en la composición de los tejidos (14).…”