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Duodenal Atresia

What Is It, Causes, Treatment, and More

Author: Ashley Mauldin, MSN, APRN, FNP-BC

Editors: Ahaana Singh, Lisa Miklush, PhD, RN, CNS

Illustrator: Jillian Dunbar

Modified: 29 Dec 2023


What is duodenal atresia?

Duodenal atresia refers to a malformation of the duodenum, the upper portion of the small intestine, which is usually present at birth. This results in a blockage that prevents any food or fluid from leaving the stomach, also known as a complete bowel obstruction or intestinal obstruction. This is in contrast with duodenal stenosis, which is a narrowing of the duodenum that leads to an incomplete bowel obstruction, as small amounts of stomach contents can still pass through the stomach and the duodenum. 

The small intestine, also called the small bowel, consists of the duodenum, jejunum, and ileum. A long, hollow tube, the small intestine connects the stomach to the large intestine. In some cases of duodenal atresia, the defect in the duodenum occurs close to the ampulla of Vater, which connects the pancreatic and bile ducts to the small intestine. In other cases, the defect may occur in a different area of the duodenum.

What causes duodenal atresia?

Duodenal atresia is a congenital condition, meaning that it develops before birth.  The exact cause of the congenital duodenal obstruction is unknown. It is believed, however, that other congenital anomalies may lead to the malformation as a result of an overgrowth of cells in the duodenum

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Is duodenal atresia genetic?

Although most cases of duodenal atresia occur at random, there is a possibility that the condition can be inherited when an individual receives the same, specific mutated gene from each parent (i.e., autosomal recessive inheritance pattern). 

Which other congenital conditions are associated with duodenal atresia?

An infant with duodenal atresia may also have other underlying genetic disorders, like Trisomy 21 (i.e., Down syndrome), as well as other intestinal atresias, such as blockages in jejunum, ileum, or rectum. Moreover, children born with Down syndrome and duodenal atresia are more likely to have cardiac defects, like a ventricular septal defect (VSD), which is a hole between the heart’s ventricles, or a patent ductus arteriosus (PDA), when a blood vessel in the heart does not close as it should after birth. 

How common is duodenal atresia?

Duodenal atresia occurs in 1 in 5,000 live births and is the most common cause of fetal bowel obstruction

How is duodenal atresia diagnosed and treated?

Duodenal atresia is usually diagnosed with an ultrasound in the last trimester of pregnancy. Screening for duodenal atresia is typically performed if there is an increased risk for Down syndrome or if there is an excess amount of amniotic fluid surrounding the fetus, known as polyhydramnios. If a fetus has duodenal atresia, an ultrasound will show the double bubble sign, characterized by two bubbles that correspond to the fluid-filled stomach and the fluid-filled duodenum, respectively. The bubbles demonstrate the buildup of fluid resulting from the blockage.

If duodenal atresia is not diagnosed during pregnancy, then it will usually present clinically in the first 24 to 38 hours of life. In this case, the newborn may experience projectile vomiting after their first feeding, with vomiting becoming progressively severe over time. Bilious vomiting, or vomit that is green in color, is indicative that the intestinal obstruction is located further away from the ampulla of Vater. A newborn with duodenal atresia may also have abdominal distention and absent bowel movements. An abdominal X-ray of the newborn can be taken to look for the same double bubble sign.

When treating duodenal atresia, the newborn may need to have a nasogastric tube placed in their stomach to remove any contents. In order to resolve the obstruction, a pediatric surgeon must perform surgical repair of the intestine. This pediatric surgery, known as a duodenostomy, forms a permanent opening in the duodenum. After the repair, there are usually no long-term complications, and the intestines typically recover in 5 to 10 days. 

What are the most important facts to know about duodenal atresia?

Duodenal atresia refers to a malformation of the duodenum which is usually present at birth.  This results in a complete blockage, or obstruction, that prevents food or fluids from leaving the stomach. In contrast, an incomplete obstruction can occur as a result of duodenal stenosis which is the narrowing of the duodenum. Duodenal atresia can develop from congenital abnormalities that cause either an overgrowth of cells or a lack of blood supply to the duodenum. Duodenal atresia is associated with Trisomy 21, also known as Down syndrome, as well as other intestinal atresias. Most cases of duodenal atresia are diagnosed during pregnancy using an ultrasound. If it’s not diagnosed during pregnancy, then it usually presents in the newborn within the first 24 hours of life, typically presenting with vomiting, abdominal distention, and an absence of bowel movements. Treatment consists of nasogastric suctioning and pediatric surgery.

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Related links

Bowel obstruction: Clinical practice
Congenital gastrointestinal disorders: Pathology review
Intestinal atresia

Resources for research and reference

Angotti R, Molinaro F, Sica M, Mariscoli F, Bindi E, Mazzei O, Ferrara F, Messina M. Association of duodenal atresia, malrotation, and atrial septal defect in a Down-syndrome patient. APSP J Case Rep. 2016;7(2):16.

Bishop J, McCormick B, Johnson C, Miller J, Jelin E, Blakemore K, Jelin A. The double bubble sign: duodenal atresia and associated genetic etiologies. Fetal Diagn Ther. 2020;47(2):98-103. doi:10.1159/000500471

Duodenal atresia. (n.d.). In Children’s Mercy Kansas City. Retrieved December 15, 2020, from https://www.childrensmercy.org/departments-and-clinics/fetal-health-center/understanding-duodenal-atresia/

National Organization for Rare Disorders. Duodenal atresia or stenosis. In Rare Disease Database. 2003. Retrieved December 15, 2020, from https://rarediseases.org/rare-diseases/duodenal-atresia-or-stenosis/

Teague W, Jones M, Hawkey L, Smyth I, Catubig A, King S, Sarila G, Li R, Hutson J. FGF10 and the mystery of duodenal atresia in humans. Front Genet. 2018;9:530. doi:10.3389/fgene.2018.00530