Exomphalos (Omphalocoele)
Your baby has been diagnosed with Exomphalos. The purpose of this leaflet is to provide
information about the condition and the care you are going to receive within the South
West Regional Fetal Medicine Network.
What is Exomphalos?
Exomphalos is a condition where there is a small defect/weakness at the base of the
baby’s umbilical cord which allows the bowel to protrude inside the thin membrane
which covers the umbilical cord. Sometimes, other internal organs (e.g. liver) can
protrude in the cord as well.
How common is it?
Approximately 1:2000 fetuses are diagnosed with Exomphalos. No obvious cause is
usually found, although sometimes it is associated with other genetic or chromosomal
problems. It is unlikely to be linked to anything you may have or have not done.
How is it diagnosed?
Exomphalos is diagnosed by ultrasound. The bowel can easily be seen protruding in the
umbilical cord, sometimes as early as 14 weeks.
Is it associated with other abnormalities or defects?
Exomphalos can be associated with other problems. The Fetal Medicine Specialist in
your hospital will examine carefully the baby with ultrasound scan for any other
abnormalities. Sometimes, Exomphalos is associated with heart abnormalities and, if
suspected, a specialist fetal heart scan will be arranged, usually in Bristol.
Exomphalos can be associated with genetic or chromosomal problems, like Down’s
syndrome. You will be offered an amniocentesis, if you want to find out if the baby has a
chromosomal problem. Amniocentesis cannot rule out all genetic problems.
If the rest of the fetal anatomy appears normal and the amniocentesis is normal, the
outlook for the baby is likely to be good. In cases where the exomphalos is large, then on
occasion these babies can have serious breathing difficulties, if the lungs have not
developed normally, and very occasionally, curvature of the spine.
What are the risks to the fetus during pregnancy?
Most pregnancies with isolated Exomphalos will be uneventful but sometimes problems
can develop. You are going to be offered regular scans to monitor the baby’s growth and
the appearance and size of the Exomphalos.
Where and when will the baby be born?
It is recommended that the baby is born in Bristol, as the surgical services for the
Southwest region are based in Bristol, and the baby will need an operation soon after
birth to replace the bowel and close the opening at the base of the cord.
You will give birth at St Michael’s Hospital, Bristol. Induction of labour is usually
arranged at around 38 weeks. Usually, normal delivery is desirable.
Sometimes, the induction of labour can be delayed by 1-2 days, if there are no empty cots
in the Neonatal Intensive Care Unit. The delay is likely to be at short notice, as the
Neonatal Intensive Care Unit accepts emergencies from the whole of the Southwest
region. You will be kept informed, if this happens.
You can discuss more about the process of induction of labour with your midwife.
Will I visit Bristol before birth?
Your local Fetal Medicine team will arrange for you to visit the Fetal Medicine Unit at St
Michael’s Hospital at some point after the diagnosis. This appointment may coincide
with the fetal heart scan appointment, if appropriate. Further visits may be required,
depending on the individual case. During your Bristol appointments, you will have an
ultrasound scan by a Fetal Medicine specialist to assess the baby’s anatomy and
wellbeing. You will also meet a paediatric surgeon to discuss surgery and care after birth.
You will have an opportunity to visit the Delivery Suite and the Neonatal Intensive Care
Unit. Your details will also need to be entered in the St Michael’s computer system, so
you should expect your first visit to last 3-4 hours.
What happens if labour starts early?
If you think your labour may have started, you should attend your local hospital rather
than Bristol. You will be assessed there and a transfer to Bristol may be arranged, if
considered safe.
What happens after birth?
The baby will need an operation soon after birth (usually within 24 hours) to replace the
bowel and close the opening at the base of the umbilical cord. Often this cannot be done
in a single operation; in this case, the bowel is protected with a plastic cover which is
gradually reduced in size and replaces the bowel and/or other organs gradually. When the
entire bowel is in the abdomen, another operation will be needed to close the hole in the
tummy wall.
The bowel may take a long time to work normally and the baby will be fed through a drip
in a vein. It may take many weeks for the bowel to work normally and therefore the baby
may stay in hospital for a prolonged time.
If there are no associated problems, most babies with Exomphalos will do well. However,
babies with larger defects may need more prolonged treatment.
Website info: http://www.geeps.co.uk/