Laryngeal Atresia with Tracheo-Esophageal Fistula and Esophageal Atresia: worse than CHAOS

TEF: Tracheo-Esophageal Fistula

CHAOS: Congenital High Airway Obstruction Syndrome

Wks: Weeks

Laryngeal atresia is one of the rarest congenital airway anomalies with a reported incidence of 1:50,000 births [1]. However, it still poses a relevant clinical issue because, as a result of the airway obstruction, it is a fatal disorder unless secure airway is achieved within minutes of birth. We present a rare series describing three cases of infants born with unexpected laryngeal atresia, where the presence of a Tracheoesophageal Fistula (TEF) impeded the development of Congenital High Airway Obstruction Syndrome (CHAOS), thus preventing antenatal diagnosis. Moreover, a coexisting esophageal atresia complicated airway management after birth by preventing also partial ventilation through TEF. Thus, the unexpected congenital airway obstruction culminated in traumatic resuscitation and inability to ventilate, resulting in death within one hour of birth.

Case 1 

A male infant was delivered by emergency caesarean section for spontaneous labour at 34 weeks (wks) of gestation. Prenatal ultrasonography had disclosed absent stomach bubble and polyhydramnios that had required drainage at 33wks. Immediately after birth, severe respiratory distress became evident. Ventilation was applied via a balloon mask, but a response could not be obtained. Apgar scores were 2(I)-2(V)-2(X). Despite multiple attempts at endotracheal intubation with different sized endotracheal tubes, a secure airway was not established. In spite of good visualisation of the vocal cords, the endotracheal tubes could not be advanced beyond the vocal cords because of an apparent subglottic blockage. It was also noted that whilst attempting to ventilate the infant, there was no chest wall movement, but the ventilation breaths could be visualised in the form of neck swelling. Emergency needle tracheostomy was unsuccessful. The baby expired at 52 minutes. At autopsy, laryngeal atresia and esophageal atresia with TEF at the level of the carina were described. 

Case 2 

A male neonate was born through emergency caesarean delivery at 31wks because of fetal decelerations. At 30wks, ultrasound had shown polyhydramnios and suggested possible esophageal atresia. At birth, the new-born did not have any spontaneous breath and was bradycardic. Apgar scores were 2(I)-2(V)-2(X). Positive pressure ventilation with bag and facial mask was started, with no effect on heart rate. Endotracheal intubation was unsuccessful: glottis was clearly visualised on laryngoscopy, but the endotracheal tube was met with resistance at the subglottic level. An attempt was made to intubate the esophagus on the basis that a TEF, if present, could have facilitated ventilation. However, partial ventilation through TEF was also unsuccessful because of the proximal esophageal atresia. At 45 minutes resuscitation was withdrawn and the infant died thereafter. 

At autopsy, subglottic laryngeal atresia was present. A TEF joined the lower end of the trachea to the esophagus. Esophageal atresia was present proximal to this fistula. 

Case 3 

A male infant with a prenatal diagnosis of esophageal atresia was delivered by emergency caesarean section for spontaneous labour at 33wks. Soon after birth, extreme respiratory distress and bradycardia were evident. Apgar scores were 2(I)-3(V)-3(X). Endotracheal intubation failed several times because of an obstruction at the subglottic level. Despite good visualisation of the vocal cords, endotracheal tube could not be advanced beyond the glottis. Autopsy findings demonstrated congenital laryngeal atresia below the glottis and esophageal atresia with TEF.

In human embryonic development, failure of the larynx to recannulate during the 8^th week of gestation results in a spectrum of congenital laryngeal anomalies that range from thin webs to complete laryngeal atresia, depending on the amount of recanalization that occurred before its interruption [2]. All the reported cases shared a subglottic laryngeal atresia associated with esophageal atresia and TEF. 

Complete laryngeal atresia presents immediately after birth with rapidly progressive cyanosis and tachycardia, absence of phonation and significant respiratory effort without ventilation. These signs, combined with the inability to successfully intubate the airway, should alert the clinician to the possibility of laryngeal atresia [3]. 

Laryngeal atresia is one of the most frequent causes of congenital high airway obstruction syndrome (CHAOS): complete obstruction of the upper airway prevents fetal lung fluid from exiting the respiratory tract. This leads to airway and lung distension that in turn causes venous compression, ascites and hydrops [2]. Recently the number of survival cases of laryngeal atresia has increased due to the prenatal diagnosis of CHAOS by its characteristic sonographic findings (dilated airways, overdistended hyperechogenic lungs and fetal ascites or hydrops), which allows to perform an elective tracheotomy under fetal circulation in the delivery room (ex utero intrapartum treatment) [4]. 

Conversely, when a communication between the airways and the digestive tract such as a TEF is present, lung fluid can drain freely through the TEF into the digestive tract, thus bypassing the laryngeal obstruction. This permits normal pulmonary development: the characteristic sonographic findings of CHAOS are absent and antenatal diagnosis is often missed [3,5,6], just as it happened in our cases. 

As laryngeal atresia requires an emergent surgical airway immediately after birth, unanticipated cases frequently result in death. In literature, very few cases of successful resuscitation of neonates with unexpected laryngeal atresia associated with TEF are described. Notably, in these reports, the presence of a communication between the bronchopulmonary tree and the digestive tract, despite preventing antenatal diagnosis of laryngeal atresia, allowed temporary ventilation through the TEF, using a facial [7] or laryngeal mask [6] or intubating the oesophagus[3,8,9], until tracheotomy was performed. 

In contrast, when a baby presents with esophageal atresia in addition to laryngeal atresia and TEF such as the babies presented in our series, airway management is more difficult because esophageal atresia also prevents partial ventilation through TEF. In these cases, an emergent surgical airway including tracheal puncture and tracheostomy under mask ventilation is the only chance to resuscitate. Only two long-term survivors of laryngeal atresia associated with esophageal atresia and TEF have been reported in literature [5,10]. Most babies still die shortly after delivery [11,12] similarly to our cases. 

As demonstrated in literature and by our experience, unexpected laryngeal atresia frequently results in death soon after birth from ventilation failure. All health care providers should be aware of this uncommon condition as early recognition is the key to survival. Clinicians should bear in mind that normal antenatal scans do not rule out laryngeal atresia, especially in the context of associated TEF, and should be trained in the procedures for emergency airway management, including emergent tracheal puncture and tracheostomy. These may offer a chance to resuscitate babies with laryngeal atresia and TEF when an associated esophageal atresia also prevents partial ventilation through the TEF. Unfortunately, as in our first case, tracheostomy is not always successful. For these cases, new emergency lower airway ventilation strategies need to be developed and they may involve innovative urgent open airway surgery in the delivery room.

Unexpected laryngeal atresia often results in death soon after birth from ventilation failure: early recognition and emergency airway management are the keys to survival.

Phillip Barlow, NHS support Librarian

Chelsea and Westminster campus library

Imperial College London

369 Fulham Road

London SW10 9NH

Funding source 

 No external funding for this manuscript. 

Financial Disclosure 

 The authors have no financial relationships relevant to this article to disclose. 

Declaration of interest statement 

The authors have no conflicts of interest relevant to this article to disclose.

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