Atresia : Symptoms & Prevention

Atresia is a birth defect leading to an anatomical abnormality. This anomaly is characterized by the complete or incomplete closure of an orifice or duct in the body. Esophageal atresia affects about one in 3,500 newborns. Regardless of the type of atresia, surgery is vital and required from birth.

Atresia, what is it?

Definition of atresia

An atresia is a congenital malformation leading to an anatomical abnormality characterized by the complete closure or not of an orifice or a duct of the body.

Esophageal atresia is the most common form of atresia. The esophagus then presents two cul-de-sacs separated by a greater or lesser interval. As a result, swallowed food cannot be transported from the mouth to the stomach. Esophageal atresia is often associated with abnormal connections between the esophagus and the trachea, called fistulas.

Types of atresias

Esophageal atresia, affecting approximately one in 3,500 newborns, can take different forms:

  • In 80 to 85% of cases, a fistula – an abnormal formation of a connection between two internal organs – connects the lower esophageal tip to the trachea;
  • In 7-10% of cases, neither end of the esophagus is connected to the trachea;
  • In 4% of cases, the fistula of the lower esophageal tip is located at the level of the carina of the trachea, or even of the right bronchus;
  • In 2 to 3% of cases, there are two or more fistulas between the upper esophageal tip and the trachea and between the lower esophageal tip and the trachea;
  • In 1% of cases, the upper esophageal tip has a fistula with the trachea when the lower tip does not. It is a very rare form of esophageal atresia.
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Other types of atresias, rarer, also exist:

Pulmonary artery atresia is an interruption of the pulmonary vascular pathway connecting the right heart to the lung;

  • Biliary atresia is an interruption of the bile ducts of the liver, compromising the flow of bile to the duodenum;
  • Duodenal atresia is an interruption of the initial part of the small intestine, the duodenum;
  • Anal atresia, very rare, is a lack of continuity between the rectum and the anus.

Causes of atresia

Atresia is a congenital malformation whose causes remain unknown.

Diagnosis of atresia

The diagnosis of esophageal atresia is made:

  • Before birth, by the presence of a hydramnios – amniotic liquid present in too large a quantity;
  • At birth, via the probe inserted into the nostril if it hits a cul de sac of the esophagus. A chest x-ray can confirm the diagnosis.

The diagnosis of pulmonary artery atresia is made at birth via an x-ray of the lungs.

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The diagnosis of biliary atresia is made after birth via an ultrasound or even a liver biopsy.

The diagnosis of duodenal atresia is made:

  • Before birth, by the presence of hydramnios, dilation of the stomach and duodenum and an inconspicuous intestine. An amniocentesis can confirm the diagnosis;
  • After birth, via an x-ray.

The diagnosis of anal atresia is made at birth using a probe.

 Symptoms of atresia

Choking

In esophageal atresia, the presence of a fistula between the trachea and the esophagus can lead to the passage of saliva and milk into the lungs, causing suffocation or severe lung infections.

Newborn cyanosis

Newborn cyanosis is a symptom of pulmonary artery atresia.

Intense jaundice

Severe jaundice, or jaundice, and white stools are symptoms of biliary atresia.

Bilious vomiting

Bilious vomiting, lack of evacuation of meconium – the first greenish stools – and a flat stomach are symptoms of duodenal atresia.

 Treatments for atresia

Whatever the type of atresia, surgical intervention is the only solution and must be carried out urgently as soon as the diagnosis is established in order to correct the malformation. The operations are performed by surgeons and anesthetists specializing in malformations in hospitals with a pediatric surgery department (level III neonatal intensive care unit).

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If the operation for biliary atresia is not possible or if it fails, a liver transplant is the only recourse.

 Prevent atresia

There is no way to prevent atresia other than early detection with a pregnancy ultrasound.