Occurrence
Esophageal atresia is a congenital malformation that is associated with a frequency of approximately 1 in 3500 live births worldwide. Boys are slightly more frequently affected than girls, at 60%. The most frequent manifestation of this is type III b according to Vogt, namely esophageal atresia with lower esophagotracheal fistula formation (the lower end of the esophagus thus opens into the trachea).
This characteristic occurs in 85% of cases. The remaining characteristics according to Vogt occur with less than 8% and are rather rare. A familial clustering, i.e. the occurrence of the malformation in several family members, is rare.
Siblings have a 1% probability of disease, identical twins have a 9% probability. The malformation occurs sporadically, so it cannot be assigned to a specific gene locus. The congenital esophageal atresia is often associated with other congenital malformations.
Approximately 50% of children with esophageal atresia have additional malformations. The so-called VACTERL association, the cause of which is largely unknown, should be mentioned. It refers to a combination of certain malformations.In detail, these are malformations of the spinal column (vertebral), the anal region (anal), the heart (cor), the trachea and esophagus in the sense of an esophageal atresia with esophagotracheal fistula formation (trachea and esophagus), the kidneys (renal) and finally the limbs (limb).
Diagnosis
Before the birth, a polyhydramnion of the mother can be noticed in the ultrasound. This means that an above-average amount of amniotic fluid is present. However, this marker is relatively unspecific, so that esophageal atresia cannot be proven by this finding alone.
After birth, one tries to place a gastric tube. The gastric tube can only be advanced about 11 to 12 cm until a resilient resistance is felt. Aspiration (material penetrates the trachea) of gastric juice through the gastric tube is also not possible.
When air is injected through the gastric tube, a gurgling sound can be heard with the stethoscope over the shoulder blades and the jugulum (depression at the upper edge of the sternum), but not over the stomach. This is where the sound should normally be heard. To prove the diagnosis, an X-ray examination of the thorax and abdomen is then performed.
This will reveal various changes resulting from the different forms of esophageal atresia. An accumulation of air at the level of the 3rd thoracic vertebra in the x-ray reflects an air filling of the upper blind sac. In the presence of a lower fistula, a gas filling in the stomach and intestine is visible.
This is because air escapes through the fistula from the airways into the digestive tract. In Vogt I, II and IIIa no gas filling of the stomach can be seen, because there is no lower esophagotracheal fistula. Rarely a contrast medium examination is performed, in which a contrast medium excess occurs if a fistula is present.
A contrast medium examination is performed when the situation and type of esophageal atresia is not clear from the normal X-ray examination. A water-soluble contrast medium is used for this purpose and the X-ray examination is performed with this medium. Other diagnostic procedures include echocardiography (ultrasound examination of the heart) and ultrasound examination of the abdomen. On the one hand, this is used for preoperative planning, and on the other hand, further malformations can be found.
