Diagnosing Congenital Airway Abnormalities

At Hassenfeld Children’s Hospital at NYU Langone, a team of specialists works together to diagnose and manage congenital airway abnormalities that can affect a child’s ability to breathe, swallow, or eat properly.

Doctor with Pediatric Patient

Our doctors use the most advanced tests to diagnose and manage congenital airway abnormalities in children.

These abnormalities—which are caused before birth by mutations, or changes, to chromosomes—can affect any part of the airway, including the nasal cavity; tongue; esophagus, which is the tube that carries food to the stomach; larynx, or voice box; trachea, or windpipe; and lungs. They can include noncancerous cysts, abnormal tissue, a weakening or narrowing of the trachea, and malformations, which may cause part of the respiratory tract to develop improperly.

Babies and children with these conditions can have irregular breathing, wheezing, a chronic cough, and difficulties with eating or drinking. Congenital airway abnormalities can lead to sleep apnea and problems with digestion, such as gastroesophageal reflux disease. Craniofacial and upper airway defects can cause fluid to enter the lungs, leading to chronic infections.

Babies are diagnosed with congenital airway abnormalities during a prenatal ultrasound or after birth. Our doctors use the most advanced diagnostic tests, often combining these into one procedure to minimize the amount time your child spends being tested, which may require anesthesia.

Physical Exam

To confirm a diagnosis in a child or infant, your child’s specialist asks you if your child has had irregular breathing and difficulty eating. The doctor weighs your baby to determine if your child is gaining weight properly.

Diagnostic Tests

A variety of tests may then be conducted to assist the doctor in making a diagnosis.

Laryngoscopy

A laryngoscopy helps a doctor examine your child’s airway for obstructions and irregularities. This helps him or her to detect if a natural passage such as the nose or larynx is closed, has an irregular structure, or isn’t working properly.

This test takes 10 to 15 minutes and requires the use of sedation. The doctor inserts a thin, flexible instrument with a high definition video camera at the end through a nostril and into the airway.

Bronchoscopy

A bronchoscopy allows the doctor to view your child’s airway and lungs and to obtain a sample of secretions to determine if food or a bacterial infection has entered the lungs.

In this procedure, a bronchoscope, which is a long, thin instrument with a high definition camera on its tip, is inserted through the nose or mouth and into the lungs to provide clear images that are sent to a monitor for review.

The procedure requires general anesthesia and takes less than 20 minutes to complete.

Our doctors often perform a laryngoscopy and a bronchoscopy during the same visit to minimize the amount of time your child spends receiving anesthesia and being tested.

Triple Endoscopy

Your child’s doctor may determine that a triple endoscopy is needed to diagnose a congenital airway abnormality and to choose the most effective treatment. A triple endoscopy involves a laryngoscopy, bronchoscopy, and endoscopy, allowing the doctor to examine the esophagus and stomach.

This procedure requires general anesthesia and is performed by three specialists: a pulmonologist, a gastroenterologist, and an ear, nose, and throat surgeon.

In this test, doctors view the larynx, esophagus, trachea, and lungs using a variety of endoscopes, each of which has a camera at the tip.

A triple endoscopy takes 30 minutes to perform.

Swallowing Study

A swallowing study helps doctors determine if abnormalities in the mouth, esophagus, vocal chords, or chest are causing food or milk to enter the lungs. This test uses a series of real-time X-rays, called fluoroscopy, to create images of the upper and lower airways while your child drinks a flavored contrast agent called a barium shake. A parent or family member may be asked to assist the child as he or she drinks this shake.

Unless you are pregnant, you may remain in the room with your child during the test. It typically takes 30 to 45 minutes.

Sleep Study

Because breathing problems can affect sleep, your child’s doctor may recommend a sleep study, or polysomnogram, to help make an accurate diagnosis. This overnight study may be done in the hospital or at NYU Langone’s Pediatric Sleep Disorders Program.

During this test, painless sensors are taped or temporarily glued to your child’s head, face, body, and legs to monitor brainwaves, movement, snoring, and oxygen and carbon dioxide levels during sleep. Most children fall asleep soon after the sensors are attached.

You may remain with your child, sleeping in a separate bed or couch.

CT Scans

Your doctor may use a CT scan to check your child’s respiratory tract for irregularities, such as cysts or a narrowing, that can affect breathing. A CT scan provides a series of X-ray images of the mouth, esophagus, larynx, trachea, and lungs that are transmitted to a monitor for review.

During the procedure, your child lies on a narrow table that slides into a circular machine. Your child can use special headphones that block any noises made by the machine.

An anesthesiologist may administer short acting anesthesia to help your child remain still during the test. CT scans can be performed with or without contrast dye and take 30 to 45 minutes.

Pulmonary Function Tests

If your child is old enough to follow instructions, pulmonary function tests may be performed. This series of tests measures how well the lungs are working. By measuring the amount of air inhaled and exhaled, the doctor can determine how quickly the lungs fill and empty and whether air remains in the lungs after exhalation.

In one test called spirometry, a plastic mouthpiece is placed in the mouth and a clip is placed over the nose to close the nostrils. Your child repeatedly breathes in deeply and blows out air. The mouthpiece is connected to a machine that records the results of the rate of change in lung volume, or how quickly the amount of air in the lungs changes.

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