Babies born with tracheal agenesis need expert, advanced care to treat this rare, often fatal birth defect. In tracheal agenesis, the trachea (or windpipe) does not develop properly. Some or all of the trachea may be missing, which prevents the baby from breathing normally.

The team in the Esophageal and Airway Treatment Program at Johns Hopkins All Children’s in St. Petersburg, Florida, is experienced in successfully treating tracheal agenesis, which is seen in less than 35-70 births per year. Few infants with tracheal agenesis survive the first week, so it is critical once a diagnosis is made that the child is referred to experts at an experienced care center.

There are three main types of tracheal agenesis, based on how much of the trachea is present:

• Type I: The upper part of the trachea is present, but it ends blindly and does not connect normally to the lungs.
• Type II: The trachea is missing, but the carina (where the airway splits into the bronchi, or the two main air tubes to the lungs) may still be present, and the bronchi may connect abnormally to the esophagus or through a fistula.
• Type III: The trachea and carina are both missing, so the bronchi have no normal connection to the throat and may only receive air through abnormal connections, such as a tracheoesophageal fistula (an abnormal opening between the airway and esophagus).

In patients with tracheal agenesis, the esophagus is may provide connection to the lungs, as well as the stomach.

Why Choose Johns Hopkins All Children’s

Experienced Team 

Our expert team of pediatric thoracic surgeons has experience treating this rare condition and is actively involved in research to continually advance treatment. Our team also includes pediatric anesthesiologists with expertise in meeting the unique anesthesia needs of children needing surgery for conditions impacting the esophagus and airway, and we also work closely with pediatric gastroenterology specialists to address esophageal and swallowing function in our patients. The hospital’s radiology specialists, nutrition teams and our specialized nursing team also provide additional expertise in caring for our patients before, during and after surgery. Learn more about our team.

Advanced Diagnostic Techniques 

Understanding the full scope of a child’s condition is essential to providing our patients with the best treatment. Our team developed a complete dynamic three-phase airway exam that allows us to perform a full assessment of your child’s esophagus and airway before surgery, using various methods to establish a complete picture of your child’s current condition. This thorough testing allows us to understand the problems and carefully plan your child’s treatment and identify additional issues that may be associated with their condition so that your child receives all the treatment they need. 

Our Approach to Treatment

Proper treatment begins with fully understanding each patient’s condition so we can create a treatment plan to address their individual needs. 

Testing includes: 

Flexible laryngoscopy: A thin, flexible camera is used to examine the nasal passages, throat, and vocal cords, allowing us to look at the structure of the vocal cords and how they work. 

Bronchoscopy: Under the close care of our expert anesthesia team, a thin tube with a camera is used to examine the trachea if it is present, bronchi and smaller airways.

Positive pressure testing: Under anesthesia, we use positive pressure in the airway to open the posterior membrane. This allows us to see things like holes or fistulas to the esophagus, connections to abnormal lung tissue, strictures and narrowing of the airway, and aids us in identifying any additional anomalies that may be contributing to your child’s airway issues before surgery.

Esophagoscopy: A thin, flexible camera is guided through the mouth to examine the esophagus.

Nasal pharyngoscopy: A thin, flexible camera is guided through the nose to examine the nasal cavity, posterior nasal space (the area in the back of the nasal cavity where the nose connects to the throat), throat and larynx.

CAT scan with contrast: A CAT scan (also called a CT scan, or computerized tomography scan) uses computers and a rotating X-ray machine to create images of the inside of the body. Contrast, which is a special dye delivered using an IV, helps the areas of concern stand out so your child’s providers get a clearer picture of your child’s anatomy and condition.

Echocardiogram: An ultrasound of the heart to understand how your child’s heart and blood vessels are functioning

Once we understand the full scope of the patient’s condition, our team works together to create a highly individualized surgical treatment plan that will address all their needs.

We treat tracheal agenesis by reconstructing the impacted areas of the trachea. This can involve using parts of the esophagus to reconstruct the trachea, and growing the remaining parts of the esophagus so the patient then has a complete esophagus and trachea.

Patients with tracheal agenesis may also experience severe tracheomalacia, in which any existing trachea (made from esophageal tissue) collapses while breathing. Cartilage from the ribs may be used to create the structures needed to prevent this collapse. We will thoroughly discuss your child’s treatment options with you and answer any questions you may have.

We also monitor our patients’ vocal cords carefully during surgery to prevent vocal cord injury. Monitoring the vocal cord nerves during surgery is uncommon, but it is a routine part of our treatment for esophageal and airway conditions.

What to Expect

We follow all our patients long-term after surgery. Typically, we’ll have a phone follow up with you about a week after your child’s discharge to home, and then they will have an appointment with us in our clinic about a month after the surgery, and again a year after surgery, thoroughly evaluating your child at each appointment.

We understand the challenges faced by our patients from other states and other countries and will work with you and your home physicians. We’ll determine appropriate follow up from there depending on your child’s condition.