Breathing is the first and most fundamental act of life outside the womb. For a newborn baby, this breathing happens almost exclusively through the nose. They are “obligate nose breathers” for the first few months of life, a natural adaptation that allows them to breathe and breastfeed simultaneously. But what happens when this essential pathway is blocked? This is the situation in choanal atresia, a rare congenital condition where the back of a baby’s nasal passage is sealed shut. When this blockage occurs on both sides, it creates a life-threatening emergency in the delivery room. While the diagnosis is undoubtedly frightening for parents, it is important to know that choanal atresia is a correctable condition, and with prompt diagnosis and skilled surgical intervention, children can have a normal, open airway and thrive.

Choanal atresia is a rare congenital condition in which the back of the nasal passage (choanae) is blocked. These are the two openings at the very back of the nasal cavity that lead into the nasopharynx, or the upper part of the throat.

To understand this, it is helpful to think of the nasal passages as two parallel tunnels that start at the nostrils and run to the back of the throat. The choanae are the two exit doors at the end of these tunnels. In a baby with choanal atresia, one or both of these exit doors is sealed shut by a wall of abnormal tissue.

The blockage can be made of two different types of tissue:

• Bony Atresia: In about 90% of cases, the blockage is a thin wall of bone.
• Membranous Atresia: In the remaining 10% of cases, the blockage is a membrane of soft, fibrous tissue.

However, the most critical classification of choanal atresia is based on whether one or both nasal passages are affected.

• Bilateral Choanal Atresia: This is when both nasal passages are blocked. Because newborns are obligate nose breathers, they cannot get air into their lungs when their mouth is closed. It presents as a life-threatening respiratory emergency immediately after birth.
• Unilateral Choanal Atresia: This is the more common form, where only one nasal passage is blocked. The baby can still breathe through the open side, so this condition is not immediately life-threatening, and its diagnosis can sometimes be delayed.

Analogy: Imagine trying to drink through a straw that’s blocked at the bottom. In choanal atresia, air can’t pass through the nasal “straw” into the throat, forcing the baby to struggle for breath, especially when trying to feed.

Choanal atresia is caused by an abnormal development of the nasal cavity during fetal growth. In a developing embryo, a thin membrane of tissue, sometimes called the nasobuccal membrane, temporarily separates the developing nasal cavity from the developing mouth and throat. Normally, this membrane naturally ruptures and disappears around the sixth or seventh week of gestation, creating the open choanae.

In a fetus with choanal atresia, this membrane fails to rupture. It persists and, in most cases, becomes ossified, or turns into bone, creating the solid bony plate that blocks the airway. For the vast majority of cases, the specific reason why this membrane fails to disappear is unknown.

Choanal atresia is a congenital disorder, meaning it’s present at birth. It arises from the complex developmental processes in the womb.

Sporadic Occurrence: Most cases of choanal atresia are sporadic, meaning they occur by chance in a child with no family history of the condition. It is not typically considered an inherited disorder in these cases.

Association with Genetic Syndromes: While often an isolated finding, choanal atresia is frequently associated with other congenital abnormalities as part of a larger genetic syndrome. The most notable of these is CHARGE syndrome. CHARGE is an acronym that stands for a specific cluster of birth defects:

• C – Coloboma (a gap or notch in the structures of the eye)
• H – Heart defects
• A – Atresia of the choanae (choanal atresia is the “A” in CHARGE)
• R – Retardation of growth and development
• G – Genital abnormalities
• E – Ear abnormalities and deafness

Because of this strong association, any infant diagnosed with choanal atresia must undergo a thorough evaluation to look for the other features of CHARGE syndrome and other possible genetic conditions.

Other Potential Risk Factors: Some research has explored a possible link between the use of certain thyroid medications during pregnancy and an increased risk of choanal atresia, but the evidence is not conclusive, and most cases have no identifiable risk factors.

The signs and symptoms of choanal atresia are different depending on whether the blockage is on one side or both.

Symptoms of Bilateral Choanal Atresia: A baby born with both nasal passages blocked will be in immediate respiratory distress. The hallmark sign is cyclic cyanosis.

• Cyanosis is a bluish tint to the skin, lips, and nailbeds caused by a lack of oxygen.
• In a baby with bilateral atresia, this cyanosis is cyclic: When the baby is quiet with their mouth closed, they cannot breathe, and their skin turns blue. When the baby becomes distressed and starts to cry, they open their mouth to breathe, and their skin color improves and turns pink. As soon as they stop crying and close their mouth, the cycle repeats, and they turn blue again.

Other immediate signs of this neonatal emergency include:

• Noisy breathing and signs of severe respiratory distress.
• The inability to breastfeed or bottle-feed, as the baby cannot breathe while sucking.
• Aspiration (inhaling fluids into the lungs) as milk or mucus cannot drain properly from the nose.

Symptoms of Unilateral Choanal Atresia: Because the baby can breathe through the one open nostril, this condition is often much more subtle and may not be diagnosed at birth.

• The most common sign is a persistent, one-sided nasal discharge (rhinorrhea). The mucus is often thick because it cannot drain properly.
• A chronic, one-sided “stuffy nose” that does not clear.
• The baby may be a noisy breather or have more difficulty breathing when they have a cold or are feeding.

Initial Diagnosis: In a case of suspected bilateral choanal atresia, the diagnosis is often made within minutes of birth in the delivery room. The primary diagnostic test is simple and effective:

• The Catheter Test: A doctor or nurse will attempt to pass a small, soft, flexible suction catheter through each of the baby’s nostrils to the back of the throat. In a healthy baby, the catheter passes easily. If the catheter meets a firm obstruction and cannot be advanced, a blockage is strongly suspected.

Confirming with Imaging: While the catheter test is a good screening tool, the definitive diagnosis is made with imaging.

• Computed Tomography (CT) Scan: A CT scan of the nose and sinuses is the gold standard. It provides a detailed, cross-sectional image that allows doctors to see the exact location of the blockage, determine whether it is composed of bone or soft tissue, and measure its thickness. This information is essential for surgical repair planning.

Other Diagnostic Steps:

• Nasal Endoscopy: An otolaryngologist (ENT specialist) may use a tiny, flexible camera called an endoscope to look directly inside the nasal passages and visualize the atresia plate.
• Screening for Associated Syndromes: As mentioned, once choanal atresia is diagnosed, a full evaluation is launched to look for other abnormalities. This includes a detailed eye exam, a hearing test, an echocardiogram of the heart, and an ultrasound of the kidneys. Genetic testing is often recommended.

Immediate Management: The first and most critical step for a newborn with bilateral choanal atresia is to establish a safe airway. This may be done by placing a temporary oral airway (a small plastic tube) to keep the mouth open or, in some cases, by intubating the baby (placing a breathing tube into the windpipe) until surgery can be performed. The baby will also require a feeding tube as they cannot feed by mouth.

Surgical Repair: The only definitive treatment for choanal atresia is surgery to open the blocked nasal passage(s). The goal of the surgery is to remove the bony or membranous obstruction and create a stable, open airway that will remain open as the child grows. Surgery is typically performed within the first few days or weeks of life for bilateral cases.

• Transnasal Endoscopic Approach: This is the modern, standard-of-care, and minimally invasive approach. The surgeon works entirely through the baby’s nostrils using small endoscopes for visualization and specialized instruments (such as drills or microdebriders) to carefully remove the atresia plate. This technique avoids any external incisions.
• Stenting: After the opening has been created, the surgeon may choose to place soft, flexible tubes called stents through the newly created choanae. These stents are left in place for a period of weeks to help prevent the opening from scarring shut (a condition called restenosis) as it heals. The routine use of stents is a topic of some debate among surgeons.

Long-Term Outlook

The overall success rate for the surgical repair of choanal atresia is very high.

• Restenosis: A common complication where scar tissue forms and causes the newly created opening to narrow again. This may require one or more repeat procedures (dilations or revision surgery) to keep the airway open.
• Prognosis: For children with isolated choanal atresia (meaning it is not part of a larger syndrome), the long-term outlook is excellent. Once a stable airway is established, they are expected to breathe normally, grow, and develop just like any other child. For children who have choanal atresia as part of a complex condition like CHARGE syndrome, their overall long-term prognosis depends on the severity of their other associated medical issues.

Choanal atresia is a rare congenital anomaly that presents a sudden and serious challenge at the very start of life. A blockage in a newborn’s primary breathing passage requires swift recognition and expert intervention. The cyclic cyanosis of the bilateral form is a classic sign that alerts medical teams to this neonatal emergency. While the diagnosis is undoubtedly frightening for parents, the prognosis has been transformed by modern surgical techniques. Minimally invasive endoscopic surgery is highly effective at creating a permanent, functional airway.

• National Institutes of Health, Genetic and Rare Diseases Information Center (GARD). (2021). Choanal atresia. Retrieved from https://rarediseases.info.nih.gov/diseases/6082/choanal-atresia
• National Organization for Rare Disorders (NORD). (2017). Choanal atresia. Retrieved from https://rarediseases.org/rare-diseases/choanal-atresia/
• Children’s Hospital of Philadelphia (CHOP). (n.d.). Choanal Atresia. Retrieved from https://www.chop.edu/conditions-diseases/choanal-atresia