Oesophageal Atresia
Oesophageal atresia is a birth defect where a baby’s food tube doesn’t connect properly to the stomach, making it impossible to swallow or feed normally. Most babies need surgery shortly after birth to repair this condition.
Table of contents
- What is Oesophageal Atresia?
- Different Types of Oesophageal Atresia
- How Common is This Condition?
- Signs and Symptoms
- What Causes Oesophageal Atresia?
- Associated Birth Defects and Related Conditions
- How is Oesophageal Atresia Diagnosed?
- Treatment and Surgery
What is Oesophageal Atresia?
Oesophageal atresia is a birth defect (also called a congenital malformation) that affects how a baby’s oesophagus develops before birth. The oesophagus is the tube that normally connects the mouth to the stomach, allowing food and liquids to pass through when we swallow[1].
The word “atresia” means that a passageway in the body is missing or closed. In oesophageal atresia, the oesophagus doesn’t form as one complete tube. Instead, it grows in two separate segments that don’t connect to each other[2]. This makes it impossible for a baby to swallow food or drink normally, as nothing can pass from the mouth to the stomach[3].
- Oesophagus (food tube)
- Trachea (windpipe)
- Stomach
Different Types of Oesophageal Atresia
Oesophageal atresia can occur in several different forms. Up to 90% of babies with oesophageal atresia also have another birth defect called a tracheoesophageal fistula, which means there is an abnormal connection between the oesophagus and the trachea (windpipe)[1].
Type A is the most classical version where the oesophagus simply ends in a closed pouch above the stomach, without any connection to the trachea. The upper part ends as a blind pouch, and there is no tracheoesophageal fistula present[1].
Type B is very rare. In this type, the oesophagus is closed at the bottom, and the upper part connects abnormally to the trachea[2].
Type C is the most common form, occurring in about 85% of cases. The oesophagus exists in two separate pieces. The upper part ends in a closed pouch, while the lower part connects to the stomach at the bottom and abnormally to the trachea at the top[1].
Type D is the rarest and most severe type. Both the upper and lower segments of the oesophagus have separate abnormal connections to the trachea[1].
How Common is This Condition?
Oesophageal atresia occurs in approximately 1 in 3,500 babies in some countries, while other sources report it affects about 1 in 4,200 babies in the United States[1][2]. Worldwide estimates vary from 1 in 2,500 to 1 in 4,500 births[6].
About half of babies born with oesophageal atresia have one or more additional birth defects affecting other parts of the body[1][2].
Signs and Symptoms
Healthcare providers often recognize oesophageal atresia by what they call the “three Cs”: coughing, choking, and cyanosis (a bluish tint to the skin, which is a sign of low oxygen)[1].
The first signs of oesophageal atresia usually appear very soon after birth. Common symptoms include frothy white bubbles in the baby’s mouth, excessive drooling or spitting up, and excessive saliva production[3][7].
Babies may show coughing or choking when trying to feed, especially during their first feeding attempt. They may also have difficulty breathing or show signs of respiratory distress (trouble getting enough air)[1][7].
While many different oesophageal problems can cause swallowing difficulties in babies, most don’t cause breathing difficulties in the same way oesophageal atresia can. When both swallowing and breathing problems appear together, it usually indicates oesophageal atresia with a tracheoesophageal fistula[1].
What Causes Oesophageal Atresia?
During normal development before birth, the oesophagus and trachea begin as a single tube. Between four and eight weeks after conception, this tube should separate into two distinct passages[4]. Oesophageal atresia occurs when this tube doesn’t finish developing and separating properly[1].
The exact causes are not fully understood in most cases. Scientists believe it is likely multifactorial, meaning multiple factors contribute to its occurrence, including both genetic variations and environmental factors[4][6].
Several genes have been associated with oesophageal atresia, including SOX2, CHD7, MYCN, and FANCB[6]. However, in most cases, no specific genetic changes or environmental factors have been conclusively identified as the cause.
Research has found some factors that may increase the risk of having a baby with oesophageal atresia, including older paternal age and the use of assisted reproductive technology (medical procedures to help with becoming pregnant)[2].
Associated Birth Defects and Related Conditions
Nearly half of all babies born with oesophageal atresia have one or more additional birth defects[2][3]. These can affect various parts of the body.
Other digestive system problems may occur, such as intestinal atresia or imperforate anus (a blocked anal opening). Heart problems are also common, including ventricular septal defect, tetralogy of Fallot, or patent ductus arteriosus[3].
Kidney and urinary system problems may be present, such as horseshoe kidney, polycystic kidney, absent kidney, or hypospadias. Some babies also have muscular or skeletal problems, or issues with the spinal cord[3].
Oesophageal atresia is often found in babies with VACTERL association, which stands for vertebral defects, anal atresia, cardiac defects, tracheo-oesophageal fistula, renal anomalies, and limb abnormalities. Not all babies with VACTERL association have problems in all these areas, but they typically have at least three of these features[3][6].
The condition can also occur as part of CHARGE syndrome, which includes coloboma (eye defects), heart defects, atresia choanae (blocked nasal passages), growth problems, genital abnormalities, and ear abnormalities. Approximately 10% of people with CHARGE syndrome have oesophageal atresia[4][6].
Oesophageal atresia occurs in about 25% of babies with Edwards syndrome (also called Trisomy 18) and in babies with Trisomy 13 or Trisomy 21[1][3].
How is Oesophageal Atresia Diagnosed?
Oesophageal atresia is rarely diagnosed during pregnancy, although sometimes increased levels of fluid around the baby (called polyhydramnios), especially in the third trimester, may suggest the condition[2][6].
Most commonly, oesophageal atresia is detected after birth when the baby first tries to feed and shows signs of choking or vomiting[2]. Healthcare providers may also suspect the condition when they cannot pass a feeding tube through the baby’s nose or mouth all the way into the stomach[3].
An X-ray can confirm the diagnosis by showing that the feeding tube stops in the upper oesophagus rather than continuing down to the stomach[2]. The X-ray may also show air in the stomach if a tracheoesophageal fistula is present, as air can travel from the trachea through the abnormal connection into the stomach[6].
Treatment and Surgery
Oesophageal atresia is a life-threatening condition that requires surgery to repair. Most babies have surgery to connect the two ends of the oesophagus soon after birth[1][4].
After diagnosis, babies need surgery to connect the two segments of the oesophagus so they can feed normally[2]. Without treatment, attempting to feed could cause milk or stomach acid to enter the airways, leading to breathing problems or infections like pneumonia[3].
In some babies, the gap between the two segments of the oesophagus is very large. This is called “long-gap” oesophageal atresia. When the two segments are far apart and can’t be easily connected, a staged surgical process may be needed to gradually bring the segments closer together before they can be joined[3].
Before surgery, a feeding tube called a gastrostomy tube (G-tube) may be placed directly into the stomach to allow the baby to receive nutrition and grow stronger[14].
After surgery, some babies may need additional procedures or medications if complications develop. These can include narrowing of the repaired oesophagus, problems with the muscles of the oesophagus not working well enough to move food, or acid reflux where stomach contents move back up into the oesophagus[2].
