What are the other Names for this Condition? (Also known as/Synonyms)

• Arhinia Choanal Atresia Microphthalmia (associated with Choanal Atresia)
• Bosma Henkin Christiansen Syndrome (associated with Choanal Atresia)
• Congenital Absence of Nose and Anterior Nasopharynx (associated with Choanal Atresia)

What is Choanal Atresia? (Definition/Background Information)

• Choanal Atresia is a congenital defect wherein the nasal passages do not develop properly during the prenatal stage. It is a common type of nasal defect among newborn children
• The ‘choana’ or back of the nasal passage gets blocked by the growth of abnormal bony or soft tissues formed during the fetal developmental stage. The blockage that occurs in the nasal airways is termed as Choanal Atresia. The exact cause of the condition is currently unknown
• There are 2 types of Choanal Atresia:
  • Unilateral; when only one nostril is blocked
  • Bilateral; when both nostrils are blocked
• Some risk factors for developing this condition include exposure to endocrine disruptors and secondhand smoke during gestation. Additionally, certain genetic disorders (such as Crouzon syndrome or Pfeiffer syndrome) can put the child at risk for Choanal Atresia
• The symptoms of Choanal Atresia include difficulty breathing and cyanosis, especially during feeding, which gets relieved when the child cries
• Surgery is the most effective treatment for Choanal Atresia. The prognosis is generally excellent with timely treatment and proper care of the baby

Who gets Choanal Atresia? (Age and Sex Distribution)

• Choanal Atresia is reported to be the most common nasal abnormality in newborns; 1 in every 7000 neonates may be affected
• Infant girls are twice as likely to develop this condition as compared to infant boys
• No racial or ethnic preference is observed

What are the Risk Factors for Choanal Atresia? (Predisposing Factors)

Some risk factors for the development of Choanal Atresia include:

• Exposure to chemicals and medications that act as endocrine disrupters during gestation
• Exposure to secondhand smoke during gestation (pregnancy period)
• Excessive consumption of coffee by pregnant mothers, exposing the developing fetus to caffeine
• Elevated levels of vitamin B-12 and  zinc in a pregnant woman, exposing the fetus to the same
• Multiple pregnancies, such as twins, carry a higher risk for Choanal Atresia
• Presence of certain congenital disorders that are associated with Choanal Atresia including Crouzon syndrome, Antley-Bixler syndrome, and Pfeiffer syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Choanal Atresia? (Etiology)

The exact cause of Choanal Atresia is not known at this time.

• The thin tissue which develops during the fetal developmental stage to separate the nose and mouth, still remains after birth and is reported to cause the condition
• Choanal Atresia is associated with certain inherited disorders that cause fetal defects and abnormalities

What are the Signs and Symptoms of Choanal Atresia?

Some common signs and symptoms exhibited by a child with Choanal Atresia include:

• Breathing difficulty
• Continuous blockage and discharge from one of the nostrils
• Chest retraction: ‘Sucking in’ of the skin in between or around the bones of the chest while inhaling
• Difficulty in inserting a catheter easily through the nostrils (which the healthcare provider observes)
• Cyanosis - blue color of skin due to low oxygen levels in blood. The cyanosis worsens during breastfeeding, but gets better when the infant is crying
• Breathing failure

How is Choanal Atresia Diagnosed?

Choanal Atresia is diagnosed soon after the birth of the baby. The following methods may be employed to diagnose the condition accurately.

• A thorough physical evaluation by a healthcare specialist
• Insertion of a nasal catheter inside the nose (an inability to do so could be an indication of Choanal Atresia)
• Assessment of symptoms such as:
  • Continuous drainage from the nostrils
  • Cyanosis (the skin turns bluish due to low oxygen levels in blood) during breastfeeding
• Tests such as:
  • CT scan of the affected region
  • Endoscopy of the nose
  • Sinus X-ray

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Choanal Atresia?

Choanal Atresia could lead to potential complications such as:

• Aspiration while feeding and while trying to breathe through the mouth
• Respiratory arrest: Breathing may slow down or even stop

In rare cases, if not treated suitably, it can result in death from aspiration during breastfeeding.

How is Choanal Atresia Treated?

The treatment of Choanal Atresia may include:

• Providing temporary relief by inserting an oral airway, which helps with the breathing
• Surgical intervention to permanently correct the defect: This is done by removing the blockage to create a nasal airway, which is accomplished through the nose or the mouth
• Drilling through the bone (if the obstruction is created by a bone) and insertion of a stent

How can Choanal Atresia be Prevented?

Currently, there are no known methods or guidance reported for the prevention of Choanal Atresia. However, pregnant women should consider the following general health measures that may minimise the risk for the condition:

• Avoidance of smoking and second-hand smoke
• Avoid certain drugs and medications that may put you at risk for the condition
• Ensure intake of a well-balanced diet (minerals and vitamins) during pregnancy
• Minimise or limit the consumption of coffee or caffeinated drinks

What is the Prognosis of Choanal Atresia? (Outcomes/Resolutions)

• The prognosis of Choanal Atresia is considered to be very good, with early (and effective) management and timely surgery
• Unilateral Choanal Atresia may be diagnosed later in life than Bilateral Choanal Atresia, as the children might learn and manage to breathe well with only one nostril
• Bilateral Choanal Atresia is a more serious condition that requires emergency medical support and prompt treatment

Additional and Relevant Useful Information for Choanal Atresia:

Studies have shown that Choanal Atresia is linked to a common herbicide (atrazine) used for treating crops in the US. It was found in the study that women with exposure to the chemical were 80 times more at risk to deliver children with Choanal Atresia than others, who were not exposed.