Overview of Congenital Gastrointestinal Anomalies

Esophageal, gastric, duodenal Duodenal Obstruction The duodenum can be obstructed by atresia, stenosis, and pressure due to an extrinsic mass. (See also Overview of Congenital Gastrointestinal Anomalies.) This anomaly is the 2nd most common... read more , and sometimes jejunal obstruction should be considered when excess amniotic fluid (polyhydramnios Polyhydramnios Polyhydramnios is excessive amniotic fluid; it is associated with maternal and fetal complications. Diagnosis is by ultrasonographic measurement of amniotic fluid volume. Management is by treating... read more ) is diagnosed, because such obstructions prevent the fetus from swallowing and absorbing amniotic fluid.

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]).

( See also Meconium Ileus Meconium Ileus Meconium ileus is obstruction of the terminal ileum by abnormally tenacious meconium; it most often occurs in neonates with cystic fibrosis. Meconium ileus accounts for up to 33% of neonatal... read more and Professional.see also Heading on Page Meconium Plug Syndrome Meconium Plug Syndrome Meconium plug syndrome is colonic obstruction caused by thick meconium. Diagnosis is based on radiographic contrast enema and sometimes testing for Hirschsprung disease. Treatment is radiographic... read more .)

Obstruction of the jejunum and ileum can occur as the result of jejunoileal atresia Jejunoileal Atresia Jejunoileal atresia is incomplete formation of part of the small intestine. Diagnosis is by abdominal x-ray. Treatment is surgical repair. (Also see Overview of Congenital Gastrointestinal Anomalies... read more , 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 , or meconium ileus. Large-bowel obstruction is typically caused by meconium plug syndrome, or colonic or anal atresia Anal Atresia Anal atresia is an imperforate anus. (Also see Overview of Congenital Gastrointestinal Anomalies.) In anal atresia, the tissue closing the anus may be several centimeters thick or just a thin... read more .

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 , 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:

For Hirschsprung disease, a rectal biopsy is needed.

Several congenital defects involve the abdominal wall (eg, 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 , gastroschisis Gastroschisis Gastroschisis is protrusion of the abdominal viscera through a full-thickness abdominal wall defect, usually to the right of the umbilical cord insertion. (See also Overview of Congenital Gastrointestinal... read more ), allowing protrusion of the viscera through the defect.