(See also Overview of Congenital Gastrointestinal Anomalies Overview of Congenital Gastrointestinal Anomalies Most congenital gastrointestinal (GI) anomalies result in some type of intestinal obstruction, frequently manifesting with feeding difficulties, distention, and emesis at birth or within 1 or... read more .)
In omphalocele, the herniated viscera are covered by a thin membrane and may be small (only a few loops of intestine) or may contain most of the abdominal viscera (intestine, stomach, liver). Immediate dangers are drying of the viscera, hypothermia and dehydration due to evaporation of water from the exposed viscera, and infection of the peritoneal surfaces. The estimated incidence is 1 in 3000 to 5000 live births. Infants with omphalocele have a very high incidence of other congenital anomalies (up to 70%), including
Chromosomal abnormalities Overview of Chromosomal Anomalies Chromosomal anomalies cause various disorders. Anomalies that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect sex chromosomes... read more (eg, trisomy 18 Trisomy 18 Trisomy 18 is caused by an extra chromosome 18 and is usually associated with intellectual disability, small birth size, and various congenital anomalies, including severe microcephaly, heart... read more , trisomy 13 Trisomy 13 Trisomy 13 is caused by an extra chromosome 13 and causes abnormal forebrain, midface, and eye development; severe intellectual disability; heart defects; and small birth size. Diagnosis is... read more , Down syndrome [trisomy 21] Down Syndrome (Trisomy 21) Down syndrome is an anomaly of chromosome 21 that can cause intellectual disability, microcephaly, short stature, and characteristic facies. Diagnosis is suggested by physical anomalies and... read more )
Cardiac anomalies Overview of Congenital Cardiovascular Anomalies Congenital heart disease is the most common congenital anomaly, occurring in almost 1% of live births ( 1). Among birth defects, congenital heart disease is the leading cause of infant mortality... read more and renal anomalies Overview of Congenital Genitourinary Anomalies Congenital anatomic anomalies of the genitourinary tract are more common than those of any other organ system. Urinary tract anomalies predispose patients to many complications, including urinary... read more
Omphalocele can be detected by routine prenatal ultrasonography; if the disorder is present, delivery should be at a tertiary care center with personnel experienced in dealing with this disorder and the other associated congenital anomalies.
At delivery, the exposed viscera should be immediately covered with a sterile, moist, nonadherent dressing (eg, medicated petrolatum gauze that can then be covered with plastic wrap) to maintain sterility and prevent evaporation. The infant should then be given IV fluids and broad-spectrum antibiotics (eg, ampicillin, gentamicin), and a nasogastric tube should be placed. The amount of fluids needed is typically significantly higher than that needed for a normal healthy neonate (1.5 to 2 times) because of excessive fluid loss from the exposed gut.
The infant is evaluated for associated anomalies before surgical repair of the omphalocele. Primary closure is done when feasible. With a large omphalocele, the abdominal cavity may be too small to accommodate the viscera. In this case, the viscera are covered by a pouch or silo of polymeric silicone sheeting, which is progressively reduced in size over several days as the abdominal capacity slowly increases, until all of the viscera are enclosed within the abdominal cavity.