An Overview of Duodenal Atresia

A Congenital Defect of the Small Intestine

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Duodenal atresia is a rare congenital (present at birth) condition involving the first part of the small intestine (called the duodenum). Normally, the lumen (opening) of the duodenum remains open during fetal development; this allows food and fluids to flow freely through the digestive tract while the fetus is developing. Duodenal atresia involves either an absence of or complete closure of the opening of the duodenum. Essentially, it is an obstruction of the duodenum due to some type of malformation. Liquids are thus unable to move through the small intestine and the remainder of the digestive tract, before and after birth, due to the blockage (atresia).

Duodenal atresia results in a condition called polyhydramnios, which is an abnormal accumulation of amniotic fluid (the fluid that surrounds the fetus during pregnancy). A prenatal ultrasound that detects polyhydramnios is one test result that commonly tips off the healthcare provider that duodenal atresia may be present. Polyhydramnios presents a higher risk of complications during pregnancy, such as premature delivery.

Symptoms

Prenatal (Before Birth) Symptoms

Prenatal symptoms of duodenal atresia include:

  • Polyhydramnios. Under normal circumstances, the fetus swallows the extra amniotic fluid, but when duodenal atresia is present, swallowing is difficult for the fetus, resulting in a buildup of extra amniotic fluid.
  • Double bubble. This is a classic sign of duodenal atresia seen on ultrasound. One bubble is an image of the fluid-filled stomach and the other is a fluid-filled duodenum. These occur when there is fluid in the stomach and part of the duodenum, but there is no fluid further down the intestinal tract.

Symptoms After Birth

After birth, infants may exhibit other symptoms of duodenal atresia, such as:

  • Abdominal swelling (of the upper abdomen)
  • Severe vomiting of large amounts (which may involve greenish colored vomitus that contains bile)
  • Vomiting that continues even if formula or breast milk is withheld for several hours
  • Absence of bowel movements after the first few meconium stools. Meconium stools are the dark-colored stools that contain the contents that line the intestines during a fetus’s development in utero.

Causes

Duodenal atresia is a congenital condition, which means it develops before birth. Exactly what causes the condition is unknown, although genetics may play a role. Congenital birth defect, such as Down syndrome have been linked with duodenal atresia.

Duodenal atresia is an abnormality that may be an isolated condition, or it may occur along with other congenital birth defects. The condition is common in infants with Down syndrome. In fact, about 1 in 3 babies born with duodenal atresia are also diagnosed with Down syndrome (a hereditary defect involving the trisomy 21 gene).

The rate of occurrence of duodenal atresia is approximately one in every 5,000 to 10,000 live births; the condition affects boys more commonly than girls. Over half of all infants born with duodenal atresia have an associated congenital defect, with nearly 30% of instances of duodenal atresia involving Down syndrome.

Other associated congenital abnormalities include esophageal atresia (an abnormality of the esophagus that impacts normal motility), renal problems, defects of the limbs, cardiac (heart) defects, premature birth, and other intestinal anomalies (abnormalities).

Down Syndrome (Trisomy 21)

Down syndrome is a genetic disorder involving an extra copy of chromosome 21 (this results in a person having three copies instead of two). That is the reason Down’s syndrome is referred to as “trisomy 21.” This extra copy of chromosomes results in physical and intellectual disabilities. Various other abnormalities, such as duodenal atresia, may be seen, as well as heart problems, vision problems, hearing problems, and other conditions.

Diagnosis

Many who are pregnant will have a routine 20-week prenatal ultrasound checkup. However, duodenal atresia may not be visible on ultrasound until the last trimester of the pregnancy. Although an ultrasound may detect duodenal atresia during the third trimester, it does not mean that a duodenal obstruction is present, in other words, diagnosis is not 100% dependent on ultrasound results.

An additional ultrasound may be performed after the 20-week prenatal check-upduring the third trimester of pregnancydue to several reasons, including:

  • Genetic screening that has indicated Down syndrome is present
  • An abnormally large measurement of the uterus, during a routine prenatal exam (this may be due to excessive amniotic fluid or polyhydramnios)
  • A “double bubble” is noted in the fetus’s abdominal area upon ultrasound.

Once duodenal atresia is suspected, several diagnostic tests may be conducted, including:

  • Genetic testing (if it has not already been conducted) to evaluate for other congenital defects
  • High resolution fetal ultrasonography, a non-invasive diagnostic test, may be performed by an ultrasound specialist. The test involves using reflective sounds to create a picture of the baby in utero. The images illustrate the fetus’s intestinal tract and other organs. The high-resolution fetal ultrasonography is also used to check for signs of excess amniotic fluid.
  • Fetal echocardiography (called an “echo” for short) may be performed by a pediatric heart specialist who specializes in fetal heart abnormalities. It’s an ultrasound procedure to evaluate whether a congenital heart defect (which commonly occurs along with duodenal atresia) is present. Babies born with Down syndrome also have an increased risk of heart defects.
  • Amniocentesis is a procedure involving the aspiration of a sample of amniotic fluid, taken from the amniotic sac that surrounds the fetus. A long needle is inserted into the mother’s abdomen, and the fluid is removed and then tested to analyze the fetus’s chromosomes for genetic disorders. This procedure is often done in the clinic; it may take several days before the results of the amniocentesis are available.

The definitive diagnosis of duodenal atresia cannot be undertaken until after the birth of the baby, when a simple X-ray can verify the diagnosis. If duodenal atresia is detected, an echocardiogram test will be conducted to ensure the baby does not have any heart defects.

Treatment

Duodenal Atresia Treatment Before Birth

Treatment of duodenal atresia can only be performed once the infant is born, but there are some intervening modalities that take place during pregnancy. Prenatal interventions are aimed at lowering the risk of complications at birth. Close observation to monitor the fetus (as well as the mother) are prenatal preventative treatment measures. This includes interventions such as frequent measurement of the uterus, evaluating its size and internal pressure. Sometimes a procedure called an amnioreduction (removing some of the amniotic fluid during pregnancy) is necessary to reduce some of the excess.

Duodenal Atresia Treatment After Birth

Babies diagnosed with duodenal atresia can be delivered normally (without the necessity of a surgical C-section procedure). The overall goal is for a vaginal delivery as close as possible to the actual due date of the fetus. Although the delivery may be normal, there are specialized medical interventions that will be needed after the baby is born. Therefore, the infant will be taken to the newborn intensive care unit after birth.

An infant diagnosed with duodenal atresia will not be able to take milk from a bottle or breastfeed until a surgery is performed to correct the obstruction of the duodenum. Feeding of an infant with duodenal atresia requires intravenous nutrients and fluids, because of the blockage in the small intestine. In addition, a very thin flexible tube called a nasogastric (NG) tube will be inserted into the infant’s stomach via the nose or mouth. This will remove any air that is collected, since trapped air and gases will not be able to move through the digestive tract normally. The tube will also allow the delivery of fluids to help prevent dehydration as well as provide nutrition.

Surgical Treatment

Under most circumstances, the surgical procedure performed to repair the duodenum is done on the baby around day two or three after birth. Although there are several different types of malformations of the duodenum that are considered subtypes of duodenal atresia, the actual procedure is primarily the same for each subtype. The steps in the procedure include:

  1. Administration of general anesthesia
  2. Opening the blocked end of the duodenum
  3. Connecting the remainder of the small intestine to the end that was blocked
  4. Introducing a feeding tube through the stomach, into the small intestine. The tube will be used for feeding the baby for the initial weeks after the surgery. This allows the surgical site to heal.

After Surgery

After the procedure, the baby will be returned to the neonatal intensive care unit; it may be necessary for the newborn to be put on a ventilator (a machine that helps the baby breathe normally) for a few days.

Under normal circumstances (provided there are no complications) the baby will be in the hospital approximately three weeks after having surgery for duodenal atresia. This is because the tube that was inserted during surgery must stay in place until the small intestine heals completely. During this three-week timespan, the infant can only be fed via the nasogastric tube. After the surgeon deems that the surgical site has healed, the baby can begin taking a bottle, or breastfeeding right away. Once the baby is taking food by mouth, without any subsequent complications, discharge from the hospital will be ordered.

Prognosis

The prognosis of a condition—such as duodenal atresia—describes the outcome of treatment; for duodenal atresia, the outcome refers to the success of the surgery to correct the intestinal blockage. When duodenal atresia is promptly diagnosed and treated, the prognosis is excellent, according to the National Institutes of Health.

Post-operative complications are rare. But in some cases, there may be dehydration, swelling of the first part of the small bowel, intestinal motility problems, or gastroesophageal reflux.

Study of Minimally-Invasive Surgery vs. Conventional Surgery

A 2017 study examined the outcome of infants with duodenal atresia who were treated from 2004 to 2016 via surgical intervention (both minimally invasive surgery [MIS] as well as traditional open surgery. MIS involves minimizing the surgical incisions during a procedure to reduce trauma to the body; performed by using very small tools and an endoscope to visually guide the surgeon. Open surgery involves a normal-sized incision, using traditional surgical tools. The results of the study were measured to evaluate the overall healing time of the infants, here are some of the study conclusion parameters:

Minimally Invasive Surgery (MIS) Vs. Traditional/Open Surgery for Duodenal Atresia
  Length of Hospitalization (after surgery) Time for the duodenum to heal (canalization) Time until the infant can take a full diet by mouth Length of time for the surgical procedure
Open Surgery 25 days 8 to 12 days 15 to 25 days 120 minutes
Minimally Invasive Surgery 12 to 14 days 3 days 7 to 9 days 180 to 214 minutes

Coping

For parents of infants diagnosed with duodenal atresia (with no co-occurring congenital disorders) the prognosis is very good, and the baby will more than likely be able to live a completely normal life after surgery. However, if you are a parent of a baby that has been diagnosed with other congenital defects (such as a heart condition or Down syndrome) the duodenal atresia repair procedure may be just the beginning of a long road to the baby’s stability. 

Keep in mind that in the modern world, children born with Down syndrome often grow up to live long, happy, healthy and productive lives. What may initially seem like a burden (facing a new diagnosis of a child with Down’s syndrome) often turns out to be one of the biggest blessings in life, according to many other parents of children born with Down’s syndrome.

The first step is to reach out and explore the plethora of resources available for parents, such as the National Down Syndrome Congress, which offers a wealth of resources. They offer advice for new and expectant parents, adult siblings, education resources, speech and language resources, health and medical resources, and research opportunities. They also have a quick directory of local and national support networks.

A Word From Verywell

Most babies who receive surgery for duodenal atresia will not need any type of long-term treatment or ongoing follow-up care once they are discharged from the hospital, provided there are no other congenital defects (such as Down syndrome or heart defects).

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  1. National Institutes of Health. Duodenal atresia. Updated 2018.

  2. MedlinePlus. Duodenal atresia. Updated April 4, 2019.

  3. Chiarenza SF, Bucci V, Conighi ML, et al. Duodenal atresia: Open versus MIS repair-analysis of our experience over the last 12 years. Biomed Res Int. 2017;2017:4585360. doi:10.1155/2017/4585360 

  4. Children's Minnesota. What is duodenal atresia?.

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