What is esophageal atresia?
Esophageal atresia is the abnormal development of the swallowing tube (esophagus) that connects the mouth to the stomach. This birth defect results in the incomplete connection of the esophagus to the stomach causing an inability to swallow properly and breathing difficulties. There are several variants of esophageal atresia. Sometimes there are abnormal connections to the trachea (windpipe), known as a tracheo-esophageal fistula. The most common type of esophageal atresia results in a blind ending upper pouch of esophagus. A lower portion of the esophagus is often connected to the trachea (Type C, 85% of all esophageal atresias). Surgery is the only treatment for esophageal atresia.
Esophageal atresia occurs in approximately 1 in 4,000 live births. Although esophageal atresia can occur by itself, more than half of these infants have other birth defects such as those associated with the spine, arms and legs, heart, other portions of the digestive tract, and kidneys. As a result, infants diagnosed with esophageal atresia will undergo a targeted ultrasound to detect the presence of any associated anomalies. Amniocentesis maybe recommended to determine chromosomal abnormalities and a specialized ultrasound of the fetal heart, called an echocardiogram, will also be performed.
What will happen during pregnancy?
Esophageal atresia is rarely diagnosed with certainty during pregnancy. Prenatal diagnosis is usually based on non-specific signs on fetal ultrasound such as a small or non-visualized stomach. Because the amniotic fluid is normally swallowed by the fetus, esophageal atresia can cause a build-up of fluid in the amniotic sac (hydramnios). Although there are many other causes of hydramnios, this may be the first sign of an esophageal atresia. The amniotic fluid and the growth of the baby will be monitored closely with ultrasound by your obstetrician. Severe hydramnios may put the mother at risk for preterm labor and early delivery.
In many cases, esophageal atresia is only diagnosed after birth. Newborns may have difficulty with feeding or trouble with breathing. In such cases, your baby's physician may try to pass a tube from the mouth into the stomach. In babies with esophageal atresia, the tube will not pass into the stomach and will be imaged in the upper portion of the esophagus.
Your pregnancy will be closely monitored for complications. The Center coordinator will keep you in contact with all of the appropriate physicians and specialists as well as coordinating the care for you and your baby after delivery.
Will a fetal treatment be required?
Although there are no prenatal treatment options for a baby with esophageal atresia, careful planning of delivery and care of the baby after birth can make a smooth transition for mother and child.
What special considerations should be made for delivery?
Type of delivery - Babies with esophageal atresia do not need a cesarean delivery except for obstetric indications. The delivery plan should be made between the mother and her obstetrician.
Place of delivery - Although it is recommended that your baby be delivered at a center with all the capabilities to take care of a child with esophageal atresia, newborns can be safely transported to a hospital with doctors and services such as a neonatal intensive care unit and pediatric surgery. A child diagnosed with esophageal atresia will require an operation to address the problem and may stay in the hospital for several weeks.
Timing of delivery - Intentional early delivery does not improve outcome. However, increasing amniotic fluid levels and the development of hydramnios raises the chance for preterm delivery. In some cases, the obstetrician may decide to induce delivery earlier than the expected due date based on the progression and status of the mother's amniotic fluid level. The delivery plan will be carefully discussed with the mother and her obstetrician.
What will happen at birth?
In most cases, a child with esophageal atresia will be born without any immediate problems. If esophageal atresia is suspected before delivery, he or she will be taken to the neonatal intensive care unit after birth. The neonatologist, a specialized doctor for high-risk babies, will assess the baby and start treatment, if necessary. In most cases, the parents will be able to see and hold their baby immediately after delivery.
The baby will be stabilized in the neonatal intensive care unit. Additional tests may be necessary to confirm the diagnosis of esophageal atresia after birth. The pediatric surgeon will carefully evaluate your baby to determine if and when surgery is necessary. In most cases, surgery is necessary, but not emergent. A series of tests will be performed to evaluate other potential birth defects.
What will happen after delivery?
Once the baby has been fully assessed, a pediatric surgeon will perform an operation in order to fix the esophageal atresia. The goal of this surgery is to reconnect the esophagus to allow your baby to swallow normally. However, depending on the distance between the upper and lower portions, different types of operations and perhaps more than one surgery may be necessary. This can only be determined by your pediatric surgeon.
In most cases (Type C esophageal atresia), the repair can be completed with just one operation through the chest. The fistula between the lower esophagus and trachea is disconnected and repaired. The upper and lower portions of the esophagus are sewn together. The baby will recover in the neonatal intensive care unit. Typically, an x-ray study will be performed around 5-7 days after the operation to evaluate the new connection. Immediate concerns regarding the surgery include leaking from the esophageal connection. This should be seen on the x-ray study. Other variants of esophageal atresia may require different types of operations. Your pediatric surgeon will discuss the overall operative plan and management of your newborn with esophageal atresia.
If all goes well with the surgery and recovery, your infant will be allowed to eat by mouth after the x-ray study. Swallowing is a natural but complex and coordinated process between the mouth and esophagus. In children with newly repaired esophageal atresia, the swallowing mechanism may not be fully mature. As a result, babies may need time to re-learn how to swallow preventing them from getting their full nutrition by mouth. If this occurs, your baby may need to be fed with a feeding tube.
Your baby will likely remain in the hospital for several weeks. Sometimes this can be much longer, depending on the type of esophageal atresia and any complications after surgery.
What are the long-term outcomes and considerations?
The overall outcomes for most esophageal atresias are excellent depending on the type of atresia. The overall survival is greater than 90% and is dependent on the gestational age at birth and the presence of additional birth defects. However, some children with esophageal atresia repairs may develop scars or strictures at the esophageal connection which may require additional surgical interventions. In addition, many children will develop gastroesophageal reflux which can usually be controlled by medication. Your pediatric surgeon will discuss all of these potential issues.
The Center team will assist in the care of you and your infant with esophageal atresia. The Center will develop a comprehensive plan with all of the physicians and specialists involved in the care of you and your newborn before, during, and after delivery.
Contact the Texas Fetal Center to make an appointment with a high-risk pregnancy doctor.
Note: This information regarding your condition is meant to be a helpful, informative introduction. Because every newborn is different, this may not be applicable to all cases, especially if there are additional defects. Your team of experts at the Center will provide you with information specific to your pregnancy.