Oesophageal Atresia Flashcards
What is oesophageal atresia?
Oesophageal atresia is a congenital interruption of the oesophagus, often accompanied by a fistula between the distal oesophagus and the trachea.
What causes oesophageal atresia?
The exact cause is not fully understood, and debate about the embryopathologic process continues. No known human teratogens are associated with it.
What is the recurrence risk of oesophageal atresia if a sibling is affected?
There is a 2% risk of recurrence when a sibling has been affected.
What problems does oesophageal atresia cause in affected infants?
It prevents normal feeding, leading to pooling of saliva and potential aspiration. If a fistula is present, saliva or gastric secretions may enter the lungs.
What is the incidence of oesophageal atresia?
Approximately 1 in 3,000 live births.
What antenatal condition is associated with oesophageal atresia?
Maternal polyhydramnios occurs in about 30% of cases.
How effective is ultrasound in diagnosing oesophageal atresia antenatally?
Ultrasound is not very sensitive, with findings like an absent or small stomach bubble and polyhydramnios present in about 40% of cases.
How common is premature birth in infants with oesophageal atresia?
Approximately one-third of affected infants are born prematurely.
What are common postnatal symptoms of oesophageal atresia?
• Excessive drooling or frothing of saliva from the mouth
• Respiratory distress after feeding (coughing, cyanosis from reflexive bronchospasm)
• Tachypnoea
• Aspiration pneumonia
• Stridor due to tracheomalacia
What is the most common cause of stridor in infants with oesophageal atresia?
Tracheomalacia
What proportion of infants with oesophageal atresia have associated congenital abnormalities?
Around 50% of cases have associated congenital abnormalities.
What is the VACTERL association in relation to oesophageal atresia?
VACTERL is a group of congenital anomalies that may be associated with oesophageal atresia, particularly including cardiac anomalies.
What chromosomal syndromes are associated with oesophageal atresia?
About 5% of cases are associated with chromosomal syndromes, such as trisomy 18 and trisomy 21.
How is oesophageal atresia diagnosed?
Diagnosis is made by the inability to pass a firm, large-bore (size 8 French) nasogastric tube beyond approximately 10 cm from the nares.
What radiological sign is indicative of oesophageal atresia?
The “coiled nasogastric tube” sign on a chest X-ray, showing the nasogastric tube coiled in the proximal atretic oesophageal pouch.
What percentage of oesophageal atresia cases involve a distal tracheo-oesophageal fistula (TOF)?
Approximately 85% of oesophageal atresia cases have a distal TOF.
How is a distal tracheo-oesophageal fistula identified?
It is indicated by the presence of air in the stomach below the diaphragm on imaging.
How common is a proximal tracheo-oesophageal fistula, and how is it identified?
A proximal TOF is found in less than 3% of cases and is typically identified during surgery through pre-operative bronchoscopy.
What is an isolated tracheo-oesophageal fistula (TOF)?
It is a very rare condition where the trachea and oesophagus are connected by a fistula, but the oesophagus itself remains patent (open).
How is isolated TOF typically suspected?
It is suspected based on recurrent aspiration pneumonia and respiratory symptoms associated with feeding.
How is an isolated TOF confirmed?
Confirmation is done through a contrast study ± bronchoscopy.
What does a “TOF study” involve?
A TOF study involves injecting contrast via a nasogastric tube and slowly withdrawing it with the patient in a prone position under fluoroscopy to reveal the characteristic “H-shaped” fistula.
What proportion of infants with oesophageal atresia are born prematurely?
Approximately one-third of affected infants are born prematurely.
What is the VACTERL association, and how common is it in oesophageal atresia cases?
VACTERL association is a group of congenital anomalies that occur together and is present in about 25% of oesophageal atresia cases.
What does the acronym “VACTERL” stand for?
V: Vertebral defects
• A: Anorectal malformations
• C: Cardiovascular defects (35% of cases)
• T: Tracheo-oesophageal defects
• R: Renal anomalies (20% of cases)
• L: Limb deformities (dysplasia)
Which cardiovascular defects are commonly associated with oesophageal atresia?
Cardiovascular defects occur in approximately 35% of cases with oesophageal atresia.
How common are renal anomalies in infants with oesophageal atresia?
Renal anomalies are present in about 20% of cases
What types of limb deformities are associated with VACTERL syndrome?
Limb deformities often present as radial dysplasia.
What is the overall incidence of associated anomalies in oesophageal atresia?
Approximately 50% of infants with oesophageal atresia have associated anomalies.
What is the CHARGE association, and how common is it in oesophageal atresia cases?
The CHARGE association occurs in about 6% of oesophageal atresia cases and includes the following anomalies:
• C: Coloboma
• H: Heart defects
• A: Choanal atresia
• R: Retardation of development
• G: Genital hypoplasia
• E: Ear deformities
What serious complication can arise from delayed detection and management of oesophageal atresia?
Aspiration pneumonitis, which can be fatal.
How should secretions be managed in an infant with oesophageal atresia?
Suction the proximal oesophageal pouch with an 8F nasal tube every 15 minutes or continuously via a double-lumen Replogle tube.
Should infants with oesophageal atresia be fed orally?
No, they should be kept nil per mouth to prevent aspiration.
What is the optimal positioning to prevent aspiration in oesophageal atresia?
Position the infant laterally on the right side with the head elevated at 30°.
How can hypoxia be prevented in these infants?
Early provision of oxygen and administration of broad-spectrum intravenous antibiotics (e.g., penicillin/ampicillin and gentamicin) to manage aspiration.
Why should pre-operative endotracheal intubation be avoided if a tracheo-oesophageal fistula (TOF) is present?
Because air may preferentially enter the low-resistance TOF, causing stomach distension and impairing diaphragmatic breathing.
What should be done if intubation is unavoidable in the presence of a TOF?
Perform deep tracheal intubation with the tip close to the carina, hoping the TOF is situated well above the carina.
How is hypoglycaemia prevented in infants with oesophageal atresia?
Administer intravenous 10% dextrose-containing maintenance fluids.
How should body temperature be maintained in these infants?
Maintain warmth using an incubator or kangaroo care.
What is the priority regarding the transfer of an infant with oesophageal atresia?
Urgently transfer to a tertiary centre with a neonatal ICU and paediatric surgical expertise, along with any X-rays or blood results.
What is the primary goal of pre-operative care in oesophageal atresia?
To continue supportive care until surgery can be performed safely.
What important investigation is performed pre-operatively in oesophageal atresia?
A pre-operative cardiac echogram to assess for cardiac anomalies.
How is oesophageal atresia typically repaired?
Through a right lateral thoracotomy with division and closure of the tracheo-oesophageal fistula (TOF) and end-to-end anastomosis of the oesophageal ends.
What surgical approach is taken if there is a long gap between oesophageal ends?
A feeding gastrostomy is performed with delayed oesophageal anastomosis after 3–6 weeks. If this fails, an oesophagostomy is created, and oesophageal replacement surgery is planned when the child is older.
What are the options for oesophageal replacement if delayed repair fails?
- Colonic interposition graft on a vascular pedicle
- Gastric tube
- Gastric pull-up
- Jejunal interposition graft
What complication can arise from delayed repair of oesophageal atresia?
Lung damage from chronic aspiration can occur.
When can feeds be gradually increased post-operatively?
Once a contrast meal confirms oesophageal patency, with no stricture or leak.
What investigations are necessary for all babies post-operatively to assess for VACTERL anomalies?
- Echocardiogram (may be done pre-operatively)
- Kidney, ureter, and bladder (KUB) ultrasound
- Spine MRI
How long is the typical hospital stay for uncomplicated cases of isolated oesophageal atresia (OA) and tracheo-oesophageal fistula (TOF)?
Approximately 2 weeks.
How long might infants with “long gap” oesophageal atresia require hospitalization?
3–4 months
Why is long-term follow-up important in oesophageal atresia patients?
To manage any sequelae and associated VACTERL anomalies.
What gastrointestinal complication is common in long-term follow-up, especially in cases with a “long gap”?
Gastro-oesophageal reflux disease (GERD), particularly if the distal oesophagus was placed under tension during anastomosis.
What complication can occur at the anastomotic site, and how is it managed?
Anastomotic strictures can develop and typically require dilation.
What respiratory complication can present with a barking cough and frequent chest infections?
Tracheomalacia, which usually improves over time but may require surgical treatment in some patients.
What is the expected survival rate for oesophageal atresia with good care?
Survival rates exceed 90% with good care.
What patient factors increase morbidity and mortality in oesophageal atresia and tracheo-oesophageal fistula (TOF)?
- Premature birth
- Other congenital abnormalities, especially cardiac disease (e.g., VSD, PDA, ToF)
- Tracheomalacia
- Genetic conditions, such as Trisomy 21 (Down syndrome) and Trisomy 18 (Edward syndrome)
- Anatomic variations, including the length of the atretic oesophageal segments and the configuration of the TOF
What are the most common cardiac anomalies associated with increased mortality in oesophageal atresia?
- Ventricular septal defect (VSD)
- Patent ductus arteriosus (PDA)
- Tetralogy of Fallot (ToF)
How does tracheomalacia affect morbidity and mortality in oesophageal atresia?
Tracheomalacia can lead to airway instability and recurrent respiratory complications, increasing morbidity and mortality.
Why do anatomic variations in oesophageal atresia increase morbidity and mortality?
Variations in the length of atretic oesophageal segments and TOF configuration can make surgical repair more challenging and increase the risk of post-operative complications.
Why is delivery outside a tertiary unit a risk factor for increased morbidity and mortality in oesophageal atresia?
Because the womb is the safest transport incubator for a baby with a congenital anomaly, and tertiary units are better equipped for immediate specialized care.
How can antenatal detection of oesophageal atresia improve outcomes?
Antenatal ultrasound detection allows for planned delivery in a tertiary unit, ensuring immediate access to specialized care.
What should clinicians be alert to if no antenatal diagnosis of oesophageal atresia was made?
A high index of suspicion is needed if the infant presents with:
1. Excessive drooling
2. Coughing or respiratory distress after feeds
3. Milk vomits
How should oesophageal patency be checked in a suspected case of oesophageal atresia?
By attempting to pass a large-bore nasogastric tube to check for obstruction.
