Fetal tracheoesophageal fistula (TEF) is a congenital defect that forms early in fetal development, approximately at 4–8 weeks of pregnancy. The trachea (the tube that connects the throat to the lungs) and the esophagus (the tube that connects the throat to the stomach) start out as one tube, but during this time they should begin to split into two separate tubes.
When this fails to happen, an abnormal connection between the trachea and the esophagus can occur at one or more places. These babies have trouble tolerating feedings and can have difficulty breathing because stomach acid refluxes into the trachea and fills their lungs with fluid, sometimes causing pneumonia.
It is estimated that one in every 3000 to 5000 births is affected by TEF. Babies born with this condition are more likely to have other birth defects including congenital heart disease, urinary problems or gastrointestinal abnormalities.
Fetal TEF is difficult to diagnose via ultrasound (sonogram) examination prior to birth. However, it may be suspected through other findings. Evaluation of the chest area is part of the routine ultrasound examination done by many obstetricians as part of their routine prenatal care around the 20th week of pregnancy. If an obstetrician suspects that there may be a problem, an MRI (magnetic resonance imaging) may be helpful in making a more clear diagnosis. Learn about fetal MRI.
If TEF is not diagnosed prenatally, it may be apparent upon physical examination soon after birth. Symptoms may include coughing or choking when feeding, vomiting and difficulty breathing.
If fetal TEF is diagnosed before birth, the staff in the Institute for Fetal Health
counsels the parents and prepares them for what to expect when their baby is born. Plans are made to assure that the baby is delivered in a hospital that has a neonatal intensive care unit (NICU) and that a neonatologist is present at the delivery.
After birth, the baby is stabilized and then transferred via ambulance to Lurie Children's to begin treatment. The baby will need surgery within the first 24–48 hours of life to interrupt the communication between the trachea and the esophagus. In some cases, advanced surgical methods have made it possible to repair the area through minimally invasive surgery requiring only a small incision. However, if the defect is larger, then the chest may need to be opened to perform surgery.
The long-term outlook for these children usually depends on whether they are born with other birth defects associated with this condition. Some babies will have long-term problems and need regular follow-up care after they return home due to the other defects. Many of these problems can be treated with surgery and medications — allowing the child to have an improved long-term prognosis. Furthermore, diagnosing the problem before birth increases the infant's chance of survival and a longer life expectancy since treatment can begin soon after birth.