What Is Choanal Atresia?

Overview

Choanal atresia (CA) or stenosis is a rare congenital (present at birth) disorder that affects approximately 1 in 5000–8000 newborns. In choanal atresia, the nasal passages (also known as nasal choana) are either narrowed or blocked, usually by bone or soft tissue, resulting in difficulty breathing through the nose. This can be associated with other congenital anomalies like cleft palate, and CHARGE syndrome. Choanal atresia can be unilateral or bilateral and is more common in people assigned female at birth (AFAB) than those assigned male at birth (AMAB) (ratio 2:1).¹

Causes of choanal atresia 

Choanal atresia develops when the tissue in the nasal cavity, which separates the mouth and nose, fails to open, causing a nasal obstruction. The exact cause of choanal atresia is not fully understood, but it is thought to be due to genetic or environmental factors. Choanal atresia is more prevalent among those who have the XX chromosome pair (i.e., those assigned females at birth). If certain drugs or toxins are consumed during pregnancy, the foetus may be put at risk. A high pre-pregnancy intake of vitamin B12, zinc, and niacin may also be linked to choanal atresia.² 

When only one nasal passage is affected, this is referred to as unilateral choanal atresia. However, it can occur in both passages in bilateral choanal atresia.¹

Signs and symptoms of choanal atresia

The signs and symptoms of choanal atresia are determined primarily by whether it is unilateral or bilateral. However, both unilateral and bilateral choanal atresia typically cause difficulty breathing in newborns due to a blocked or narrowed nasal passage.¹

Recurrent nasal drainage and persistent sinus infection without any clear cause are most commonly observed in unilateral choanal atresia. A newborn with unilateral choanal atresia face difficulty breathing through the nose initially, but they usually learn to compensate by breathing through their mouth.²

On the other hand, bilateral choanal atresia manifests itself immediately after birth and can be fatal. A newborn with bilateral choanal atresia and breathing difficulties presents with cyanosis due to the tendency to breathe through the nose, particularly while eating and sleeping. When an infant starts crying, they unconsciously start breathing through their mouth, which usually results in signs of respiratory distress and the reversal of cyanosis.²

Management and treatment for choanal atresia

The treatment for choanal atresia is surgical, but the type and urgency of surgery depends on the severity of the condition.¹

Unilateral choanal atresia generally does not require urgent surgery, unlike bilateral choanal atresia,² as it can be postponed until a certain age when the child's nasal anatomical structure is fully developed.¹ Nevertheless, it needs to be monitored closely. Additionally, nasal saline spray can be used to keep the nasal route clear and supplementary oxygen can be given if needed.²

Bilateral choanal atresia requires immediate surgical intervention as it completely blocks the airflow. Immediate insertion of an endotracheal tube is needed upon birth to ease respiratory distress and cyanosis.² This involves inserting a tube into the throat to open up the airway. In the short term, a McGovern nipple, a pacifier-like nipple with a large opening, can also be used to help the newborn breathe through the mouth. Surgical treatment involves creating a passage through the bony or membranous tissue to allow air to flow freely through the nasal passages.¹ The procedure can be performed using an endoscope, which is a thin, flexible tube with a camera on the end that is inserted through the nostrils. This allows the surgeon to visualize the tissue and create a passage without making any external incisions. In some cases, a stent or a splint may be placed in the new passage to prevent it from closing while it heals. The stent or splint is usually removed after a few weeks.^{1, 2}

After surgery, the patient will typically need to stay in the hospital for a few days to ensure that they are breathing comfortably and to monitor for any complications. Antibiotics and pain relievers may be prescribed to manage pain and prevent infection.¹

Overall, the prognosis for choanal atresia is good with appropriate treatment, and most patients can breathe comfortably through their nose after surgery.¹

Diagnosis of choanal atresia

The diagnosis of choanal atresia can typically be made immediately after birth and involves a physical examination and imaging studies. During the physical exam, a healthcare provider will look into the infant's nose using a special instrument called an otoscope.² If the choanae are blocked, the healthcare provider may not be able to see the back of the nasal passages. In some cases, a small tube may be inserted through the nostril to confirm the diagnosis.¹

Imaging studies, such as a CT scan or MRI, may also be performed to confirm the diagnosis and evaluate the severity of the blockage.¹ These imaging studies can also help determine if the blockage is caused by bony or membranous tissue, which will guide the treatment strategy.

FAQs

Can I prevent choanal atresia?

Unfortunately, choanal atresia is a congenital condition, which means it occurs during foetal development and cannot be prevented. It is caused by a failure of the nasal passages to develop properly, leading to a blockage at the back of the nose.

Who is at risk of choanal atresia?

The cause of choanal atresia is often unknown but has some association with certain genetic conditions, family history, and maternal medication use.

How common is choanal atresia?

Choanal atresia is a relatively rare condition, occurring in approximately 1 in 5,000 to 1 in 8,000 live births. It affects people AMAB and AFABequally.

When should I see a doctor?

If you suspect that your child may have choanal atresia, it is important to speak with your paediatrician or a specialist in ear, nose, and throat (ENT) disorders as soon as possible. Early detection and treatment of choanal atresia are crucial for the health and well-being of the affected infant.

You should see a doctor if your child has any of the following symptoms:

• Difficulty breathing through the nose, especially when feeding or sleeping
• Frequent episodes of nasal congestion or stuffiness
• Persistent nasal discharge or runny nose
• Difficulty feeding or poor weight gain
• Snoring or noisy breathing during sleep
• Difficulty sleeping or frequent awakenings during the night
• Cyanosis (bluish colour) of the skin or lips during feeding or crying

Summary

A rare congenital condition called choanal atresia is characterized by the blockage of the nasal choanae (nasal passage) by bony or membranous tissue. Choanal atresia can be classified as either unilateral (only one nasal passage is blocked) or bilateral (both nasal passages are blocked). This blockage can cause difficulty breathing through the nose, especially when feeding or sleeping. 

The cause of choanal atresia is not always known, but it has been associated with genetic conditions, maternal medication use, maternal smoking, premature birth, and a family history of the condition. The diagnosis of choanal atresia typically involves a physical examination and imaging studies, such as a CT scan or MRI.

Prompt diagnosis and appropriate management are important for the health and well-being of infants with choanal atresia. With appropriate treatment, including surgical intervention to clear the blockage, most infants with choanal atresia can go on to lead healthy and normal lives.