Prenatal diagnosis of severe epignathus in a twin: case report and review of the literature

Cleft Palate Craniofac J. 2010 Jul;47(4):421-5. doi: 10.1597/08-224.1.

Abstract

A prenatal ultrasound diagnosis of epignathus in a dichorionic-diamniotic twin pregnancy is reported. A complex mass protruding from the fetal face was seen at week 19. Amniocentesis resulted in a 46,XX fetus with elevated alpha-fetoprotein (α-FP). An increase in tumor size and severe polyhydramnios ensued. Selective feticide performed at 22 weeks led to untreatable uterine contractions with iatrogenic abortion and early neonatal mortality of the healthy cotwin. Without development of polyhydramnios and tumor growth, weekly scan and transvaginal cervical assessment would have been carried out and cesarean section planned at around 32 weeks. Necroscopy and histology aided the ultrasound-based prenatal diagnosis.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Amniocentesis
  • Facial Neoplasms / congenital*
  • Facial Neoplasms / diagnostic imaging*
  • Female
  • Fetal Death
  • Humans
  • Polyhydramnios / diagnostic imaging
  • Pregnancy
  • Pregnancy, Multiple*
  • Teratoma / congenital*
  • Teratoma / diagnostic imaging*
  • Twins*
  • Ultrasonography, Prenatal*