Esophageal atresia is a rare congenital malformation that must be operated on as soon as the baby is born. What are the clinical signs? And the causes? How to detect it?
Esophageal atresia is a very rare congenital malformation of the newborn. “According to data from the national epidemiological register created in 2008, 53% of children affected by this malformation are boys without knowing why“, specifies Pr Frédéric Gottrand, pediatrician, gastroenterologist and head of the reference center for congenital and malformative diseases of the esophagus (CRACMO). What is esophageal atresia? What is the cause ? How to detect it? What are the complications?
Definition: what is esophageal atresia?
Esophageal atresia is a very rare malformation of the newborn, which is manifested by interruption of the esophagus. This anomaly of embryonic origin actually prevents food and saliva from going into the stomach, and therefore the child from feeding properly. It may be accompanied by one or more fistulas connecting the esophagus to the trachea which go increase the risk of misdirection.
What is the cause of esophageal atresia?
The exact cause remains unknown.
Generally, doctors check at birth that the esophagus is continuous by inserting a very fine probe into the newborn’s mouth. If this has not been done, the excessive salivation of the baby, the fact that he spit out the milk and/or that he has difficulty breathing will alert the pediatrician. “Only in 20% of cases is esophageal atresia diagnosed by ultrasound during pregnancy. This remains limited because the esophagus is small in the fetus. It is therefore particularly difficult to spot its absence. On the other hand, any associated malformations (heart, limbs, intestine) but also symptoms of more severe forms (smaller stomach…) will help screening by ultrasound“, explains Professor Gottrand.
What are the complications of esophageal atresia?
Following the operation, some complications may appear. Children can indeed have difficulty swallowing food because their “esophagus does not function like a normal esophagus since it does not always contract properly. Additionally, there may be a prolonged gastroesophageal reflux and frequent. The anastomosis may end up narrowing“, explains Professor Gottrand. In addition, people who are born with esophageal atresia may present with digestive and respiratory complications such as a soft trachea causing difficulty in breathing, and reactive bronchi (superinfection, cough). “There may be food blockages, reflux, vomiting but also slower than normal growth and weight gain.“
“Newborns with esophageal atresia should must be operated. The operation consists of closing the fistula or fistulas connecting the esophagus and the trachea, then sewing the lower and upper ends of the esophagus back together. It most often takes place at birth unless the baby is premature.. In this case, it is necessary to wait until the infant grows a little before operating. And if the complications are more numerous, the child will still find a normal evolution around the age of 2-3 years.“, reassures the gastroenterologist. You should know that this atresia is very well operated with a success rate of 94%, according to the national epidemiological register.
What follow-up when the children grow up?
“Regular and multidisciplinary follow-up is systematically implemented for each patient. Consultations are thus organized at key periods of life: at 2 years old, at 6 years old then at 16 and 18 years old. Patients are then followed by a gastroenterologist who performs fibroscopy every 5 years.“Nevertheless, people born with esophageal atresia can live normally: play sports, have children, exercise the profession they want…”Some patients will present more or less symptoms. They will then organize themselves according to the disease. It is important to know that even if their quality of life is worse than that of healthy individuals, it is better than that of people with diabetes or asthma“, says Professor Gottrand.
► Support for parents? “When the diagnosis is announced, whether it is made during the ultrasound or at birth, a psychologist is present to support the parents and accompany them. He can also follow siblings if they wantspecifies the gastroenterologist. Moreover, While it is certain that parents know the disease better than some doctors, they should not necessarily become caregivers. Indeed, it is essential that they keep their role as parents. It is a difficult balance to find but which is essential.“
Thanks to Pr Gottrand, pediatrician, gastroenterologist.