What is an Omphalocele?

Omphalocele comes from the Greek word omphalos meaning the navel; a central point; a focal point. It also refers to the marble boss in the temple of Apollo at Delphi, which was regarded as the centre of the earth.

“An omphalocele is an abnormality in newborns in which the infant's intestine or other abdominal organs protrude from the navel. The intestines are covered only by abdominal membrane, and can be easily seen. Birth defects occur in approximately 25 - 40% of infants with an omphalocele, and they may include genetic problems (chromosomal abnormalities), congenital diaphragmatic hernia, and heart defects.” MedLine Plus

In normal baby development the internal organs develop first in the umbilical cord and then begin to move into the abdomen around the four week mark of pregnancy. Sometimes the organs remain outside the body growing in the umbilical cord in a protective sac and the abdomen does not close. This is what is generally called an omphalocele. The size of the omphalocele depends on how many organs (liver, intestine, stomach) are outside and/or how large it is. For example, a "giant" omphalocele implies an abdominal wall defect that is 5 cm or more in diameter with the liver in a central position.

“An omphalocele: is a midline defect in which bowel, liver, and possibly other organs form outside of the abdomen in a sac due to a defect in the muscle of the abdominal wall. Gastroschisis is a similar birth defect, but the sac is not present.” Mothers of Omphaloceles

Associated Risks with Omphalocele:

• Heart defects (cardiac abnormalities)
• Chromosonal abnormalities – pairs 13, 18, 21 – Trisomy 13 syndrome
• Beckwith-Wiedemann Syndrome
• Neural Tube defects
• Twisted intestine
• Urinary system anomolies
• Pentalogy of Cantrell
• Underdeveloped abdominal cavity and/or lungs
• Feeding intolerance or eating disorders
• Respiratory complications or infection can occur related to surgery
• Treatment Options - There are three options (and/or combinations of these): immediate surgery, the "silo method" or what is called "paint and wait".

The following is taken from the TEXAS PEDIATRIC SURGICAL ASSOCIATES Website:
How is an omphalocele treated? Surgery must be delayed until the baby is doing well if the omphalocele sac is intact. Small omphaloceles are repaired immediately to prevent infection or tissue damage. Larger omphaloceles may require gradual reduction by enlarging the abdominal cavity to accommodate the intestinal contents. A Silastic (plastic) pouch is placed over the abdominal contents to contain the bowel and aid in reduction until surgical closure is possible. When the abdominal contents have returned to the abdominal cavity with the aid of gravity, the opening is surgically closed. Returning the abdominal contents into the abdominal cavity can take up to ten days. The baby is usually on a breathing machine (or ventilator) during the time it takes for this return. Non-operative treatment involves the application of Silvadene cream to toughen the sac. Surgery is postponed in these cases for 6-12 months to allow the abdominal cavity to enlarge as the baby grows. If the omphalocele ruptures, this is a medical emergency and surgery would be performed immediately. Complications from omphalocele include infection, rupture and intestinal obstruction. Should you have any further questions, please do not hesitate to ask any member of the Pediatric Surgery Team.

What is Tetralogy of Fallot?

Tetralogy of Fallot is a relatively common congenital heart defect that has four key features. A ventricular septal defect (a hole between the ventricles) and many levels of obstruction from the right ventricle to the lungs (pulmonary stenosis) are the most important. Also, the aorta (major artery from the heart to the body) lies directly over the ventricular septal defect, and the right ventricle develops thickened muscle. In Jonathan's case he also has a small ASD (hole between the atria) discovered after his birth.

Cyanotic Defects - In these defects, blood pumped to the body contains less-than-normal amounts of oxygen – called “cyanosis” – a blue discoloration of the skin caused by low oxygen content in the blood. The term " blue babies" is often applied to infants with cyanosis.

This condition involves four defects that make the level of oxygen in the blood too low:

• A large hole in the wall between the two lower chambers that allows oxygen-poor blood to mix with oxygen-rich blood (ventricular septal defect).
• A narrowing at, or just beneath, the pulmonary valve, which can block the flow of blood from the right side of the heart to the lungs.
• A more muscular than normal lower right chamber of the heart (ventricle)
• An aorta that lies directly over the lower chambers of the heart, allowing oxygen-poor blood to flow into the aorta.

Treatment Options:
Surgical Treatment - Tetralogy of Fallot is treated surgically. A temporary operation may be done at first if the baby is small. Complete repair comes later. Sometimes, the first operation is a complete intracardiac repair. For more information on TOF treatment options please refer to The American Heart Association.