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Overview of Congenital Gastrointestinal Anomalies


Jaime Belkind-Gerson

, MD, MSc, University of Colorado

Reviewed/Revised Aug 2023

Immediate management includes bowel decompression (by continuous nasogastric suction to prevent emesis, which can lead to aspiration pneumonia or further abdominal distention with respiratory compromise) and referral to a center for neonatal surgery. Also vital are maintenance of body temperature, prevention of hypoglycemia and dehydration with IV fluids containing 10% dextrose and electrolytes, and prevention or treatment of acidosis and infections so that the infant is in optimal condition for surgery.

Because approximately one third of infants with a GI malformation may have another congenital anomaly (eg, up to 50% in those with congenital diaphragmatic hernia and up to 70% in those with omphalocele Omphalocele 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 Omphalocele ), they should be evaluated for malformations of other organ systems, especially of the central nervous system, heart, and kidneys.

Esophageal, Gastric, and Duodenal Obstruction

Once cardiovascular stability has been attained after delivery, a nasogastric tube should be passed into the neonate’s stomach. Finding large amounts of fluid in the stomach, especially if bile-stained, supports the diagnosis of upper GI obstruction. Inability to pass the tube into the stomach suggests esophageal atresia. Once the neonate is stable, radiographic studies are performed for further evaluation.

Jejunoileal and Large-Bowel Obstruction

In many cases, there is no history of maternal polyhydramnios because much of the swallowed amniotic fluid can be absorbed from the intestine proximal to the obstruction. Disorders that result in bowel obstruction, other than malrotation Malrotation of the Bowel Malrotation of the bowel is failure of the bowel to assume its normal place in the abdomen during intrauterine development. Diagnosis is by abdominal x-ray. Treatment is surgical repair. (See... read more Malrotation of the Bowel , intestinal duplication Intestinal Duplication Intestinal duplications are tubular structures that are attached to the intestines and share a common blood supply; their lining resembles that of the gastrointestinal tract. (See also Overview... read more , and Hirschsprung disease Hirschsprung Disease Hirschsprung disease is a congenital anomaly consisting of a failure of neuronal colonization (and thus a failure of innervation) of the lower intestine, usually limited to the colon, resulting... read more Hirschsprung Disease , typically manifest in the first few days of life with feeding problems, abdominal distention, and emesis that may be bilious or fecaloid. The neonate may pass a small amount of meconium initially but thereafter does not pass stools. Malrotation, intestinal duplication, and Hirschsprung disease can manifest in the first several days of life or, in some cases, even years later. Hirschsprung disease may present as a neonatal colonic perforation (2 References 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 ).

General diagnostic approach and preoperative management include the following:

  • No oral food or liquid intake

  • Nasogastric tube to prevent further bowel distention or possible aspiration of vomitus

  • Correction of fluid and electrolyte disturbances

  • Abdominal x-ray series

In addition, a contrast enema may be helpful to delineate the anatomy and may also relieve the obstruction in neonates with meconium plug syndrome or meconium ileus. If Hirschsprung disease is suspected from the contrast enema, a confirmatory rectal biopsy is required. A biopsy is positive if it is devoid of intestinal ganglion cells (enteric neurons).

Defects in Abdominal Wall Closure


  • 1. Guner YS, Delaplain PT, Zhang L, et al: Trends in Mortality and Risk Characteristics of Congenital Diaphragmatic Hernia Treated With Extracorporeal Membrane Oxygenation. ASAIO J 65(5):509-515, 2019. doi:10.1097/MAT.0000000000000834

  • 2. Komuro H, Urita Y, Hori T, et al: Perforation of the colon in neonates. J Pediatr Surg 40(12):1916-1919, 2005. doi:10.1016/j.jpedsurg.2005.08.006

Drugs Mentioned In This Article

Drug Name Select Trade
Advocate Glucose SOS, BD Glucose, Dex4 Glucose, Glutol , Glutose 15 , Glutose 45 , Glutose 5
NOTE: This is the Professional Version. CONSUMERS: View Consumer Version
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