Merck Manual

Please confirm that you are a health care professional

honeypot link

Overview of Congenital Gastrointestinal Anomalies


William J. Cochran

, MD, Geisinger Clinic

Last full review/revision Apr 2021| Content last modified Apr 2021
Click here for Patient Education

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 2 days. Some congenital GI malformations, such as 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 , have a very good outcome, whereas others, such as congenital diaphragmatic hernia Diaphragmatic Hernia Diaphragmatic hernia is protrusion of abdominal contents into the thorax through a defect in the diaphragm. Lung compression may cause persistent pulmonary hypertension. Diagnosis is by chest... read more Diaphragmatic Hernia , have a poor outcome (mortality rate of 10 to 30%).

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 with IV 10% dextrose and electrolytes, and prevention or treatment of acidosis and infections so that the infant is in optimal condition for surgery.

Because about one third of infants with a GI malformation have another congenital anomaly (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.

High Alimentary Tract Obstruction

A nasogastric tube should be passed into the neonate’s stomach immediately after cardiovascular stability has been attained after delivery. Finding large amounts of fluid in the stomach, especially if bile-stained, supports the diagnosis of upper GI obstruction, whereas inability to pass the tube into the stomach suggests esophageal atresia (or nasal obstruction [eg, choanal atresia]).

Jejunoileal and Large-Bowel Obstruction

In 75% of cases, no history of maternal polyhydramnios exists because much of the swallowed amniotic fluid can be absorbed from the intestine proximal to the obstruction. These disorders, other than malrotation, intestinal duplication, and Hirschsprung disease Hirschsprung Disease Hirschsprung disease is a congenital anomaly of innervation of the lower intestine, usually limited to the colon, resulting in partial or total functional obstruction. Symptoms are obstipation... 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 fecal. 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 years later.

General diagnostic approach and preoperative management include the following:

  • Giving nothing by mouth

  • Placing a nasogastric tube to prevent further bowel distention or possible aspiration of vomitus

  • Correcting fluid and electrolyte disturbances

  • Taking a plain abdominal x-ray

  • Doing a contrast enema to delineate the anatomy (the enema may also relieve obstruction in meconium plug syndrome or meconium ileus)

For Hirschsprung disease, a rectal biopsy is needed.

Defects in Abdominal Wall Closure

Click here for Patient Education
NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version
Professionals also read
Test your knowledge
Mumps is an acute, contagious, systemic viral disease caused by a paramyxovirus. It is spread by droplets or saliva and probably enters through the nose and mouth. After a 12- to 24-day incubation period, headache, anorexia, malaise, and low-grade fever usually develop. Then several other symptoms develop over the next few days. Of these symptoms, edema of which of the following structures is most likely to peak on the 2nd day and typically last 5 to 7 days? 
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID

Also of Interest