Omplaocele (also called ‘Exomphalos’)

  • Omphalocele refers to a rare defect of the abdominal wall, through which liver or bowels herniate through and are found outside the abdomen in a sac;
  • The prevalence is ~1 in 4000 pregnancies;
  • It can be an isolated abnormalities but can also be associated with chromosomal (in particular Edwards and Patau syndromes), genetic or syndromal conditions, such as Beckwith-Widemann syndrome;
  • On average, one third of babies with omphalocele have other associated anomalies, including cardiac, genitourinary, gastrointerstinal and spinal defects;
  • Invasive prenatal diagnosis is advised for karyptyping and array CGH to look for chromosomal and genetic defects. The risk of miscarriage related to the invasive prenatal diagnosis seems to be well justified in this condition;
  • Further counselling by paediatric surgeon on the postnatal surgery is also recommended to provide the parents the required information and prognosis. In general, the survival is over 90% if it is an isolated abnormality.
This article is contributed by Dr. T.N. Danny Leung
Updated on 25.09.2020