(See also Overview of Congenital Gastrointestinal Anomalies Overview of Congenital Gastrointestinal Anomalies Most congenital gastrointestinal (GI) anomalies present as intestinal obstruction and frequently manifest as feeding difficulties, distention, emesis, and an inability to pass gas and stool... 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 2 to 3 in 10,000 live births (1 References An omphalocele is a protrusion of abdominal viscera from a midline defect at the base of the umbilicus. (See also Overview of Congenital Gastrointestinal Anomalies.) In omphalocele, the herniated... read more 
). Infants with omphalocele have a very high incidence of other congenital anomalies (up to 70%), including
Bowel atresia
Chromosomal abnormalities Overview of Chromosomal Abnormalities Chromosomal abnormalities cause various disorders. Abnormalities that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect... 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 abnormality of chromosome 21 that can cause intellectual disability, microcephaly, short stature, and characteristic facies. Diagnosis is suggested by physical anomalies... 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 Beckwith-Wiedemann syndrome
Omphalocele can be detected by routine prenatal ultrasonography (2 References An omphalocele is a protrusion of abdominal viscera from a midline defect at the base of the umbilicus. (See also Overview of Congenital Gastrointestinal Anomalies.) In omphalocele, the herniated... read more ); 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.
References
1. Nembhard WN, Bergman JEH, Politis MD, et al: A multi-country study of prevalence and early childhood mortality among children with omphalocele. Birth Defects Res 112(20):1787-1801, 2020. doi:10.1002/bdr2.1822
2. Bence CM, Wagner AJ: Abdominal wall defects. Transl Pediatr 10(5):1461-1469, 2021. doi:10.21037/tp-20-94
Drugs Mentioned In This Article
| Drug Name | Select Trade |
|---|---|
ampicillin |
Principen |
gentamicin |
Garamycin, Genoptic, Genoptic SOP, Gentacidin, Gentafair, Gentak , Gentasol, Ocu-Mycin |
