Brown University

Fetal Medicine @ Brown
WARREN ALPERT MEDICAL SCHOOL OF BROWN UNIVERSITY

The Warren Alpert Medical School of Brown University

Abdominal Wall Defects:
Gastroschisis and Omphalocele

WHAT'S GASTROSCHISIS?

WHAT'S OMPHALOCELE?

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GLOSSARY

Glossary:
Explanation of Medical Terms

Amniotic fluid: The fluid within the amniotic cavity in which the fetus "floats." Some believe that the amniotic fluid contains substances that may be harmful to exposed bowel loops in gastroschisis, and could be partially responsible for the "peel" seen in some patients

Amniotic cavity: The space within the uterus in which the fetus resides, bound by the amniotic membrane

Atresia: An absent portion of an organ. Intestinal atresia (ileal or jejunal atresia) refers to a missing portion of small bowel, a known complication of gastroschisis. If present, this will require an operation, to reconnect the two ends of bowel

Beckwith-Wiedemann syndrome: An anomaly that includes omphalocele, enlargement of some of the organs (often the pancreas), a large tongue and various degrees of gigantism (large baby). These children have a risk of developing some childhood tumors, such as Wilms tumor and hepatoblastoma.

Cloacal exstrophy: A complex anomaly of the abdominal wall, the intestinal tract and the pelvic organs. Infants with cloacal exstrophy have a short intestine, an absent anus, a large defect of the abdominal wall (omphalocele) and the bladder (which is exposed and lacks a front wall), and anomalies of the pelvic bone and genitalia. This is not the same as a bladder exstrophy (defect of the bladder, with or without anomaly of the penis in boys), which is a less severe condition.

Diaphragm: A large muscular sheath that separates the chest from the abdomen. Anomalies of the diaphragm include diaphragmatic hernia, a congenital defect in that muscle. The most common form is a posterolateral hernia, or Bochdalek type (whereby the hole is mostly on the side and in the back of the diaphragm, causing intestines to move into the chest). The anterior form, or Morgagni, is a defect behind the sternum (breast bone); this is the one most commonly associated with omphaloceles, as part of the Pentalogy of Cantrell.

Gastroschisis: refers to a defect (hole) in the abdominal wall of the fetus or newborn, through which intestines or other abdominal organs can protrude. In gastroschisis, the hole is to the (patient's) left of the belly button.

Omphalocele: Abdominal wall defect in the fetus, located in the umbilicus. Often, a membrane covers the exteriorized intestines. "Giant" omphaloceles contain not only intestines, but liver as well. If only a very small defect is present, this is often referred to as "hernia of the umbilical cord." Omphaloceles are to be differentiated from gastroschisis, where the defect is to the side (usually left) of the belly button. Omphaloceles are often associated with other anomalies, including congenital heart defects. Omphalocele can also be part of a syndrome, such as Beckwith-Wiedemann syndrome, pentalogy of Cantrell and cloacal exstrophy.

Peel: The thick layer of scar often seen in exposed bowel loops in gastroschisis.

Pentalogy of Cantrell: A rare syndrome that includes five anomalies: an omphalocele, a diaphragmatic hernia (hole in the diaphragm), a heart defect, a defect of the pericardium (the membrane that envelops the heart), and a defect the sternum (breast bone), which in very severe cases can cause the heart to protrude out of the chest.

Silo: A silicone plastic ("silastic") sterile bag or membrane that can be placed over the exposed bowel loops in gastroschisis, to prevent dehydration and further damage to them. It is used for temporary cover if the intestines can not immediately be replaced in the amniotic cavity.

Total Parenteral Nutrition (TPN): Basic nutritients (carbohydrates, essential fats, proteins, vitamins and trace elements) given intravenously (through a vein), usually via a central venous catheter, that provide enough calories for a patient to survive and grow without any feeding by mouth. This life-saving technique allows a baby with gastroschisis to recieve enough nutrition until he can feed normally (often 3-4 weeks later).

Trisomy: The presence of an extra chromosome (normally, humans have 2 sets of 23 chromosomes, or 46 chromosomes, in each cell; individuals with a trisomy have an extra copy of one chromosome per cell). The most common trisomy syndromes are trisomy 21 (Down syndrome), trisomy 13 and trisomy 18. The latter two are sometimes associated with an omphalocele.

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