What Is Tracheoesophageal Fistula?
A tracheoesophageal fistula (TEF) is a birth defect that results in an abnormal connection between the trachea (windpipe) and the esophagus (tube that connects the throat to the stomach). A TEF is a congenital (present at birth) condition, which means that it occurs during fetal development.
In early pregnancy, the esophagus and trachea of the fetus begin as one tube that normally separates into two tubes. With TEF, the esophagus and trachea don’t separate properly and still have one or more connections.
In a baby with TEF, swallowed food, liquids, stomach acid, and other substances can enter the baby’s lungs. This problem requires treatment soon after birth as it can cause choking, difficulty breathing, respiratory infections, and pneumonia.
Causes and Risk Factors of Tracheoesophageal Fistula
The exact causes of TEF are unknown, and nothing that the mother did or did not do during pregnancy causes TEF.
Researchers believe that TEF may have genetic causes because some specific congenital conditions often occur along with it, including:
- Digestive tract conditions, such as imperforate anus (missing or blocked anal opening), bowel obstructions, and diaphragmatic hernia (an abnormal opening in the diaphragm)
- Kidney and urinary tract disorders, such as polycystic kidney, horseshoe kidney, absent kidney, and hypospadias
- Musculoskeletal (bone and muscle) disorders and limb issues, including webbed fingers or toes, scoliosis (curvature of the spine) and polydactyly (more than five digits on a hand or foot)
- Congenital heart defects, such as atrial and ventricular septal defects (holes in the walls separating the left and right sides of the heart), tetralogy of Fallot (where blood with low oxygen flows from the heart to the body), and right-sided aortic arch (when the main blood vessel curves to the right rather the typical left), and other heart conditions
- Trisomy 13, 18 or 21 (Down Syndrome), genetic disorders involving extra chromosomes
Types of Tracheoesophageal Fistula
Another congenital condition, esophageal atresia (EA), occurs in about 90% of babies who have TEF. With EA, the baby’s esophagus does not form properly during fetal development. The upper esophagus doesn’t connect with the lower part, preventing babies from swallowing fluids and food, which can cause long-term problems.
The types of TEF describe whether EA is involved. The most common types of TEF are:
- Type A: This type is an EA with no TEF, occurring in about 8% of cases. With this type, the middle section of the esophagus is missing, and the upper and lower sections aren’t connected.
- Type B: In about 2% of cases, esophageal atresia (EA) occurs with a tracheoesophageal fistula (TEF) near the upper part of the esophagus. This means the upper esophagus is connected to the windpipe, while the lower esophagus does not connect to the stomach and instead forms a pouch.
- Type C: Type C is the most common form of esophageal atresia (EA), occurring in about 85% of cases. In this type, the lower part of the esophagus is connected to the windpipe, while the upper part does not reach the stomach and instead forms a pouch.
- Type D: Type D is the rarest form of esophageal atresia (EA), occurring in less than 1% of cases. In this type, both the upper and lower parts of the esophagus are connected to the windpipe, creating two abnormal connections.
- Type E: Type E, also known as an H-type fistula, occurs in about 4% of cases. In this condition, the esophagus is fully formed and connected to the stomach, but there is an abnormal connection (fistula) between the esophagus and the windpipe.
Signs and Symptoms of Tracheoesophageal Fistula
Because most babies who have TEF also have EA, doctors may suspect both conditions if a prenatal ultrasound shows signs of EA. If a baby has only TEF and no EA, the condition usually goes unnoticed until after birth.
A prenatal ultrasound can show these signs of esophageal atresia:
- Polyhydramnios (Excess Amniotic Fluid): A fetus normally inhales and swallows amniotic fluid, which surrounds your baby in your uterus. With EA, the baby cannot swallow or inhale the fluid, causing an enlarged uterus as the fluid builds up.
- Small Fetal Stomach: When a fetus cannot swallow amniotic fluid, its stomach becomes empty. The stomach might appear very small or might not be visible during an ultrasound.
- Enlarged Esophageal Pouch: The upper esophagus may have excess amniotic fluid if EA prevents it from flowing to the stomach.
If your baby has only TEF, they may not show signs immediately after birth. Signs that may appear later include:
- Coughing and cyanosis (blueish skin color) when trying to feed
- Frequent lung infections
- Frothy white bubbles in the mouth
With both TEF and EA, a baby may show signs, such as:
- Difficulty breathing
- Difficulty feeding due to painful feeling, with choking and coughing
- Excessive drooling
- Frequent spitting up
Diagnosis of Tracheoesophageal Fistula
If a prenatal ultrasound shows signs of EA, doctors may suspect TEF at that time. But most of the time, doctors confirm a diagnosis of TEF after your baby is born.
After birth, your baby may need one or more diagnostic tests, including:
- X-Rays of the Chest and Abdomen (Belly): X-ray imaging uses small doses of radiation to create images of the inside of the body. Chest X-rays can show problems with the trachea, and abdominal X-rays can show a gastric bubble (air in the stomach and intestines). A gastric bubble can be a sign of a Type C EA/TEF, and the absence of a gastric bubble can mean Type A or B.
- Bronchoscopy: Doctors use an endoscope (a narrow tube with a camera) to examine your baby’s windpipe. They insert the scope through the baby’s mouth or nose into the windpipe to assess TEFs to determine their type.
Because TEFs can occur with other congenital conditions, your baby may need other tests, such as:
- Physical Examination: Doctors examine your baby to check for problems with the arms, legs, spine or anus, paired with a complete medical history evaluation.
- Ultrasound: High-frequency sound waves create images of the inside of the body. Ultrasound techniques that doctors use to assess babies who have TEFs may include:
- High-Resolution Ultrasound: To evaluate your baby’s kidneys and overall health
- Fetal Echocardiogram (Heart Ultrasound): To examine your baby’s heart structure and blood flow
- X-Rays: Doctors use X-rays to look for bone problems in the spine, arms or legs.
Treatment for Tracheoesophageal Fistula
Babies receive treatment for TEFs after they are born. Our specialists from the Fetal-Maternal Center will closely monitor you and your baby throughout pregnancy, working with you to carefully plan your delivery and outline an appropriate care plan and treatment options for your baby.
Delivery with Tracheoesophageal Fistula
In most cases, you can have a vaginal delivery unless other pregnancy issues require a cesarean section delivery.
Surgical Treatment for Tracheoesophageal Fistula
For TEF with or without EA, your baby will have neonatal surgery within 48 hours after birth. Surgery for TEF helps prevent damage from food, fluids, saliva or mucus secretions that can get into the lungs.
Before prepping your child for surgery, your baby receives nutrition through intravenous (IV) feeding if they also have EA, because they cannot swallow anything.
The type of surgery depends on your baby’s overall health and the type of TEF:
- TEF Without EA: Surgeons can usually repair the TEF in one surgery. They remove the connection between the trachea and esophagus. They also repair each structure so that your baby can swallow, eat, and breathe normally.
- TEF With EA: In addition to closing the TEF, surgeons create a continuous esophagus from the throat to the stomach by connecting its two sections. If they are too far apart, your baby might need two surgeries, allowing time for the sections to grow.
The Outlook for TEF Surgery
The outlook for TEF surgery is promising, with many children experiencing successful outcomes that enable them to achieve adequate nutrition and thrive, especially with proper medical support. Post-surgery, these children often adapt well, allowing for normal esophageal function and improved nutrition through oral feeding.
However, although surgery is generally a success, potential complications may include scar tissue at the surgical site that results in a narrowed esophagus or the development of gastrointestinal reflux disease (GERD). Discuss potential outcomes with your care provider when evaluating your child's options for surgical repair. Some children may require additional surgery or follow-up care months after surgery, particularly if complications arise or if the esophagus requires reconstructive surgery. Regular follow-up visits with the CHLA specialty team are vital to monitor long-term growth, respiratory health, and address potential complications like gastroesophageal reflux.
The success of TEF surgery heavily relies on early intervention and the collaborative approach of various medical professionals to ensure comprehensive care. With vigilance and support, many children can enjoy a healthy, thriving life after their initial surgery, benefiting from ongoing assessments and interventions as needed.
Tracheoesophageal Fistula Care at Children’s Hospital Los Angeles
Our Fetal-Maternal Center brings together a multidisciplinary team of skilled fetal and neonatal specialists who are dedicated to diagnosing and managing complex conditions like TEF as early as possible. With advanced imaging and diagnostic tools, our experts can identify and plan for TEF treatment before birth, helping parents prepare for the best possible outcomes. After delivery, newborns receive specialized care in our Level IV Newborn and Infant Critical Care Unit (NICCU), where a dedicated team of neonatologists, pediatric surgeons, and nurses provide expert care before, during, and after surgery to support their recovery and long-term health.
Children’s Hospital Los Angeles is nationally ranked in neonatology and recognized among the top hospitals in the country for newborn care. Families can trust that their child will receive expert, compassionate care from a team committed to delivering the best care and long-term health for every patient. Learn more about CHLA's TEF team and the tracheoesophageal fistula treatment options we offer at our Fetal-Maternal Center.