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My Child Has:
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Congenital Anomalies of the Esophagus and Trachea
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Congenital anomalies (birth defects) are malformations that occur during fetal development, before a baby is born. There are several congenital anomalies of the esophagus (a tube that leads from the throat to the stomach) and the trachea (the tube that leads from the throat to the windpipe and lungs).
One of the most life threatening of these is esophageal atresia. With esophageal atresia, the esophagus does not form properly while the fetus is developing before birth, resulting in two segments; one part that connects to the throat, and the other part that connects to the stomach. However, the two segments do not connect to each other. Since the esophagus is in two segments, liquid that a baby swallows cannot pass normally through the esophagus and reach the stomach. Milk and other fluids cannot be digested if the esophagus does not connect to the stomach. Furthermore, ingested liquids may spill over into the bronchial tubes and cause pneumonia or airway obstruction.
Esophageal atresia often occurs with another birth defect known as tracheosophageal fistula (TEF). In fact it rarely occurs alone. Tracheoesophageal fistula is an abnormal connection in one or more places between the esophagus and the trachea. Normally, the esophagus and the trachea are two separate tubes that are not connected
If a TEF is present, most commonly the connection is between the lower esophagus and the trachea. Stomach content may regurgitate into the lungs. This can cause pneumonia and other problems. It is also possible, though rare, that a TEF can be present from the upper end of the esophagus to the trachea in which event, swallowed liquids would pass directly into the lungs.
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Other anomalies of the esophagus can include rare problems such as isolated tracheoesophageal fistula where there is an abnormal communication between an otherwise intact esophagus and trachea either as a narrow opening or there can also be a rare long communication between esophagus and trachea called a tracheoesophageal cleft.
Rare anomalies of the trachea can include the absence of a portion or all of the trachea, as in trachea atresia, or there may be tracheal-stenosis (a narrowing or constriction of the trachea) of short or long segments, or tracheal occlusion (blockage in the trachea).
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As a fetus is growing and developing in its mother's uterus before birth, different organ systems are developing and maturing. The trachea and the esophagus begin developing as one single tube. At about four to eight weeks after conception, a wall forms between the fetus' esophagus and trachea to separate them into two distinct tubes. If this wall does not form properly these anomalies can occur.
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About one in 3,000 to 5,000 babies in the United States is born with tracheoesophageal fistula or esophageal atresia. Other anomalies of the esophagus and trachea are even more rare.
These two problems are not thought to be inherited. However, they are often seen when a baby has other birth defects, such as:
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- trisomy 13, 18, or 21
- other digestive tract problems (such as diaphragmatic hernia, duodenal atresia, or imperforate anus)
- heart problems (such as ventricular septal defect, tetralogy of Fallot, or patent ductus arteriosus)
- kidney and urinary tract problems (such as horseshoe or polycystic kidney, absent kidney, or hypospadias)
- muscular or skeletal problems
- VATERL syndrome (which involves Vertebral, Anal, Cardiac, TE fistula, Renal, and Limb abnormalities)
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Up to one-half of all babies with TE fistula or esophageal atresia have another birth defect.
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The symptoms of TEF or esophageal atresia are usually noted very soon after birth. The following are the most common symptoms of TEF or esophageal atresia. However, each child may experience symptoms differently. Symptoms may include the following:
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- frothy white bubbles in the mouth
- coughing or choking when feeding
- vomiting
- blue color of the skin, especially when the baby is feeding
- difficulty breathing
- very round, full abdomen
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Other congenital malformations might be present, such as the ones mentioned in the previous section. Symptoms of TE fistula or esophageal atresia may resemble other conditions or medical problems. Please consult your child's physician for a diagnosis.
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If esophageal atresia occurs alone, it can be diagnosed prenatally on prenatal ultrasound because it causes polyhydramnios (overproduction of amniotic fluid) to occur. Esophageal atresia with tracheoesophageal fistula, and other anomalies of the trachea are almost never diagnosed before birth. However, short segment atresias of the trachea or the larynx (voice box) can be diagnosed prenatally.
Once the baby is born, imaging studies are usually done, along with a physical examination and medical history, to evaluate whether a baby has abnormalities of the esophagus and/or trachea. X-rays are taken to look at the chest and abdomen.
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If your baby has a congenital anomaly of the esophagus or trachea, he/she will need surgery to fix the problem. The type of surgery depends on the following:
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- type of abnormality
- overall health of the baby and medical history
- opinion of the surgeon and other physicians involved in the baby's care
- expectations for the course of the condition
- your opinion and preference
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Repair of esophageal atresia depends on how close the two sections of esophagus are to each other. It may involve the placement of a feeding tube in the child's stomach and may require one or more operations to repair over several months. Esophageal atresia associated with a tracheoesophageal fistula can usually be repaired in the first day or two of life in one operation that involves surgically closing the connections between the esophagus and the trachea and connecting the two ends of the esophagus together. Children who undergo this procedure usually do very well. Children whose upper and lower esophagus is separated by a long gap may eventually require an esophageal substitution using stomach, small intestine, or large intestine. Tracheal stenosis can be repaired by removing the narrowed or constricted part of the trachea and then connecting the unaffected parts of the trachea. A blockage in the trachea, or short segment atresias of the trachea or larynx may require specialized surgical treatment during delivery called an EXIT(ex utero intrapartum treatment) procedure. For this procedure, surgery is done as the baby is delivered via Cesarean section and still attached to the mother's placenta. This method gives surgeons time to perform multiple procedures to secure or open up the baby's airway while the blood flow and exchange of gases that normally occurs in the womb between the fetus and the placenta is preserved.
During an EXIT procedure, the fetus is only partially exposed during surgery, so that the placental connection to the uterus is maintained. Doctors may use inhalation agents to ensure relaxation of the mother's uterus. As with all prenatal surgeries, there are risks to the mother, including excessive bleeding and infection. Be sure to discuss these risks fully with your doctor. Your baby's surgeon and other physicians will decide when it is best to do the operations, based on your baby's condition and the type of problem.
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Some children born with esophageal atresia have long-term problems.
Swallowing food or liquids may be difficult due to:
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- problems with the normal movement of foods and liquids down the esophagus (peristalsis).
- scarring that can occur in the esophagus after surgery as the wounds heal, which can partially block the passage of foods.
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Sometimes, a narrowed esophagus can be widened or dilated with a special procedure done while the child is under general anesthesia. In other cases, another operation may be necessary to open up the esophagus so food can pass to the stomach properly.
About one-half of children who had esophageal atresia repaired will have problems with gastrointestinal reflux disease. Reflux causes acid to move up into the esophagus from the stomach. When acid moves from the stomach into the esophagus, it causes a burning or painful feeling known as heartburn. Reflux can usually be treated with medications prescribed by a physician. In some cases, when there is poor response to medical treatment, the operative treatment of reflux may be necessary.
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