Brown University

Fetal Medicine @ Brown
WARREN ALPERT MEDICAL SCHOOL OF BROWN UNIVERSITY

The Warren Alpert Medical School of Brown University

Abdominal Wall Defects:
Omphalocele
(click here for a printable version)

WHAT'S GASTROSCHISIS?

WHAT'S OMPHALOCELE?

SUPPORT GROUPS

GLOSSARY

The text below will, hopefully, answer some of the questions you may have regarding this condition. You can scroll down, or go directly to a specific question:

Underlined terms are explained in detail - just click on them. A medical review on this topic was recently published by Dr. Kurkchubasche in Medicine & Health/Rhode Island.

WHAT IS OMPHALOCELE?

Omphalocele (sometimes called "exomphalos") refers to a condition in the fetus whereby some abdominal contents (small and/or large intestine, stomach, and even liver) protrude through a hole in the abdominal wall. Unlike in gastroschisis, the hole is in the middle of the abdomen, right where the belly button would be. Instead, there is a variable size defect (hole) covered by a membrane (which somewhat protects the exteriorized organs). The umbilical cord of the fetus inserts at the top of this membrane, rather than on the abdomen itself. Although both omphalocele and gastroschisis appear the same (intestines protruding outside the abdomen), each condition has its own features. To learn more about gastroschisis, click here. Abdominal wall defects can be detected by ultrasound from the third month of pregnancy on (14 to 15 weeks). As the pregnancy progresses, diagnosis becomes more accurate: loops of intestine can then be seen outside the abdomen, "floating" into the amniotic cavity (arrow).

If you would like to see other Images of omphalocele, you can click here. However, be aware that some of these Images are graphic in nature, and may not be suitable for everyone. If you prefer, you can contact us for further information.

HOW COMMON IS IT?

Omphalocele occurs somewhat less often than gastroschisis, and is estimated to be present in 1 of every 5,000 live births. It can be an isolated finding, but omphalocele is also seen in a number of chromosomal anomalies and other syndromes. The most common associated anomaly is a heart defect; others include the Pentalogy of Cantrell (which includes heart, diaphragm and other defects) and cloacal exstrophy (a severe anomaly involving the intestines, the bladder and pelvic organs). Omphaloceles are also seen in trisomy 13 and trisomy 18, two severe chromosomal anomalies. In all these cases, the omphalocele is only a small component of the fetal condition, and the outcome will be largely depend on the other anomalies, not on the omphalocele itself.

Because of the relatively common association of omphalocele with other, vaster syndromes, many have, in the past, painted a grim picture for all omphaloceles. However, isolated omphaloceles have a prognosis similar to gastroschisis: once the extruded organs can be replaced in the abdomen and the defect closed, most of these children will have a normal life.

WHAT CAN BE DONE BEFORE BIRTH?

There is no reason to treat omphaloceles before birth (i.e., try to operate on the fetus). However, some measures can be taken once an omphalocele, or gastroschisis, has been diagnosed by ultrasound. Additional diagnostic tests may be necessary, particularly with omphalocele: an amniocentesis may be indicated, with chromosomal analysis; and efforts should be made to detect heart anomalies. The course of the pregnancy can be altered in three ways:

1. Mode of delivery
If intestines and other organs are outside the abdomen, it would seem logical that they would be at an increased risk of being damaged during normal delivery. Some have therefore advocated Cesarean section ("C-section") for all cases of gastroschisis and omphalocele. In fact, the risk of injury is only theoretical, and vaginal delivery does not put the baby at an increased risk of complications. For that reason, most (although not all) physicians now recommend normal delivery, even for gastroschisis, unless there are obstetrical reasons to proceed with a C-section. The main exception may be cases of "giant" omphalocele," where a large portion of the liver is exposed as well: here, there may be an increased risk of liver trauma with vaginal delivery.

2. Place of delivery
As long as he or she is inside the womb, the fetus with an omphalocele is relatively well shielded from trauma and complications. After birth, however, the exposed intestines and/or liver have to be protected from direct trauma and infection. The baby can be safely transported to a treatment center, as long as certain precautions are taken. However, if the diagnosis of omphalocele has been made beforehand, it would seem logical to have the baby be born directly in such a treatment center (i.e., a center with a neonatal intensive care unit and immediate access to a pediatric surgery service). Therefore, we generally recommend that, if you are pregnant with a fetus with gastroschisis or omphalocele, you plan to deliver in such a tertiary institution. Your care will likely be transferred to a Maternal-Fetal Medicine specialist at our institution, to facilitate the transition to peri- and postnatal care.

3. Time of delivery

One of the concerns with gastroschisis is that the exposed bowel becomes so damaged, that function is impaired and the baby may end up staying in the intensive care for a long time. It is known that many infants with gastroschisis have what appears to be damaged bowel, with very thick, rigid loops of intestines containing a "peel." One of the theories for this peel (and for the fact that some babies have little or no peel at all) is that prolonged exposure of the bowel to the amniotic fluid causes progressive damage. In other words, limiting the amount of time that the bowel is floating in this fluid (or even diluting that fluid by infusing sterile saline water inside the womb) could theoretically decrease the amount of peel and intestinal damage.
In omphaloceles, this is rarely a problem, because a membrane envelops the organs and shields them from exposure. However, that membrane can have ruptured (so-called ruptured omphalocele), exposing the intestines to the same potential trauma as with gastroschisis.

Click here for more information regarding the conditions we treat
Fetal Program Home
Patient Information
Contact us
Faculty
In the news
Conditions we treat:
  Twin-twin transfusion
  Diaphragmatic hernia
Lung sequestration
CCAM
Gastroschisis
Omphalocele
Other conditions
Research
Links Look us up on Facebook
Directions
Lodging
Maternal-Fetal Medicine
Pediatric surgery