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.) Duodenal atresia 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 seen on a prenatal ultrasound, because such obstructions prevent the fetus from swallowing and absorbing amniotic fluid.

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.

(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 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. (See also 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 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 . Large-bowel obstruction is typically caused by 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 , colonic atresia, or anal atresia Anal Atresia Anal atresia is also known as imperforate anus. (Also see Overview of Congenital Gastrointestinal Anomalies.) In anal atresia, the tissue closing the anus may be several centimeters thick or... read more .

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 , 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 , 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:

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).

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.