Two case reports of unexpected tracheal agenesis in the neonate: 3 C’s beyond algorithms for difficult airway management
© The Author(s). 2017
Received: 22 October 2016
Accepted: 6 February 2017
Published: 8 February 2017
Handling neonates with postnatal respiratory failure due to congenital airway malformations implies knowledge about emergency management of unexpected difficult airway. In these stressful situations both technical and communication skills of the caretakers are essential.
Two cases with prenatally unknown tracheal agenesis are reported.
In the presented cases, airway malformation and subsequent difficulties upon endotracheal intubation were not adequately communicated between caretakers. We discuss the aspects of culture, communication, and capnography.
KeywordsCase report Tracheal agenesis Unexpected difficult airway Communication Culture Capnography
Tracheal agenesis is one of the rarest congenital airway malformations. It was first described by Payne ( Payne) in 1900 and later classified in three types by Floyd ( Floyd). An incidence of 1:50 000 to 1:100 000 births with male preponderance is reported in the literature ( Klotz,  van Veenendal). In most cases other malformations are associated ( van Veenendal, Evans ). Affected neonates present with severe refractory respiratory distress after delivery. Even in neonates with prenatal diagnosis of tracheal agenesis, postnatal airway management is challenging. Despite intensive treatment overall prognosis of this malformation is poor and surgical curative attempts are still experimental ( van Veenendal,  Hartnick). We report two cases with antenatally unknown tracheal agenesis. Importantly, both neonates were supposedly endotracheally intubated prior to take-over. Correct endotracheal intubation was also supported by positive capnography. Personal and professional skills training might be a way to counteract the triad of negative safety culture, bad communication, and false positive capnography results.
Case presentation 1
The 24-year-old gravida 1 para 1 mother had her first pregnancy check at 25 weeks of gestational age (GA) and polyhydramnios was detected. At 30 weeks and five days GA a prolapse of the amniotic sac occurred and antenatal steroids were administered to induce lung maturation. During the fetal assessment a major cardiac malformation was diagnosed. At 31 weeks GA a male infant was delivered by caesarean section due to active labour and breech presentation. The infant was severely depressed at birth, with a 1-min Apgar score of 3. He required bag-mask ventilation and was intubated orally with significant difficulty due to impaired vision at 4 min with a 2.5 mm endotracheal tube (ETT). At 5 and 10 min the Apgar was scored 4 and 5, respectively. Following administration of surfactant the oxygenation improved significantly, the neonate was cardiopulmonary stable on low respirator settings and the outborn patient was transferred to our neonatal intensive care unit. The birth weight was 1230 g (10th–25th percentile). Physical examination was remarkable for anal atresia, single transverse palmar crease on the right hand and bilateral clinodactyly. The diagnostic work-up included echocardiography, X-ray films, and an abdominal ultrasound showing a balanced double outlet right ventricle, a double-bubble sign and dysplastic S2/S3 vertebrae, and an absent right kidney, respectively.
Case presentation 2
Discussion and conclusions
Our focus in these two reports is on the importance of “3 C’s” beyond algorithms for difficult airway management, namely, the aspects of culture, communication, and capnography. The presented cases emphasize the importance of classification and communication of a difficult airway in neonates with postnatal severe respiratory distress.
Laryngeal atresia and tracheal agenesis are rare congenital conditions that result from the failure of the larynx and trachea to re-canalize during embryogenesis ( Hartnick,  Ambrosio,  Ahmad). Some of the traits are stronger male preponderance, significantly higher rates of premature birth ( van Venendaal), more complex heart defects, and intestinal and renal abnormalities. Malformations with tracheal agenesis have common genetic characteristics, but are different from tracheo-oesophageal fistula malformations found with VACTERL-association. Tracheal agenesis can be one malformation in a so-called TACRD (tracheal atresia, complex congenital cardiac abnormalities, radial ray defects, duodenal atresia) association ( Evans).
Prenatal diagnosis via ultrasound remains difficult in the presence of an oesophageal-bronchial fistula. In the absence of a fistula, Congenital High Airway Obstruction Syndrome (CHAOS) can be diagnosed in some cases ( Groot-van der Morren). Under optimal conditions prenatal ultrasound detects polyhydramnios ( van Veenendal), fetal hydrops, hyperechogenic enlarged lungs, a flattened or inverted diaphragm, and a fluid-filled dilated airway distal to the obstruction ( Ahmad,  Groot-van der Morren,  Sanford,  Oenderoglu). In context of unexplained polyhydramnios associated with congenital malformations suspicion of tracheal agenesis should be raised. In these cases, exploration of the airway by fetal MRI should be considered ( Bertholdt). To plan a safe delivery, the ex utero intrapartum treatment (EXIT-procedure) has been shown to be a useful management strategy for the anticipated difficult airway ( Hartnick,  Sanford,  Vaikunth). During the EXIT-procedure, either a (temporary) surgical airway is established or ECMO cannulation is performed to bridge to a later surgical repair.
Respiratory distress and strong respiratory effort in an aphonic cyanotic neonate is the most frequent presentation of tracheal agenesis ( Dijkman). In presence of an oesophageal-bronchial fistula the infant can be stabilized by bag mask-ventilation and oesophageal intubation or insertion of a laryngeal mask ( Vanzati). In some cases of tracheal agenesis, emergency tracheotomy has been performed, but the procedure is seldom and complex ( Krause,  De Luca). Overall, tracheal agenesis has a very poor prognosis, even though cases of surviving patients with experimental therapies have been reported in the literature ( Hiyama,  Soh,  Tazuke).
After making the diagnosis of tracheal agenesis, we discussed the cases with all the physicians who were involved in the management. The attending neonatologist who performed the intubation in the delivery room in the first case reported that visualisation of the larynx was difficult due to secretions. Following intubation, thorax excursions and improvement of gas exchange were observed. Moreover, subsequent administration of surfactant resulted in an additional stabilization of the neonate. Hence, the initial doubts regarding correct ETT tube positioning vanished. Nonetheless, “difficult tracheal intubation” was mentioned at hand-over. The next 24 h were characterized by the observation of both a significant airway leak despite adequate ETT size and tracheal suctioning never yielding normal tracheal aspirates but rather saliva-like mucous. Without mentioning particular findings, a paediatric intensivist electively replaced the oral ETT by a nasal ETT. Again, positive capnography was taken as correct tube positioning despite medical history and lacking vision of the typical landmarks during intubation. Both airway classification and difficult airway were not communicated in the team. In the second case, no irregularities with regard to intubation were described. Positive capnography and initial improvement of the neonate were also interpreted as correct endotracheal intubation. We assume that massive air leakage of the oesophageal tube led to worsening oxygenation and insufficient ventilation. Only after placing a laryngeal mask, sufficient air exchange via tracheo-oesophageal fistula was achieved.
In the depicted cases, the visibility of the landmarks upon intubation was clearly impaired and tracheal intubation was not under vision. However, positive capnography reassured the clinicians of correct endotracheal intubation. Positive capnography (end tidal CO2) measurement was achieved by inadvertent oesophageal intubation and ventilation via the oesophageal fistula to the bronchial system. Although end tidal CO2 is intended to prevent mal-positioning of the endotracheal tube, our cases demonstrate that this is not always true for rare congenital anomalies. Positive capnography can thus be misused in two ways. First, in reassuring oneself despite pathologic view and landmarks and second, to justify correct intubation towards others.
Based on the two cases, we discussed how to proceed and manage future patients. In case of antenatal suspicion of airway malformation, intrauterine referral to a tertiary center would be strongly recommended. Diagnostic imaging via fetal MRI has the potential to demonstrate tracheal agenesis and allow for timely interdisciplinary discussion and counselling of the parents. In case of postnatal suspicion at the referral hospital, securing the difficult airway via laryngeal mask or oesophageal intubation (tracheoesophageal fistula) is mandatory and the priority. After that, expeditious transfer to a tertiary center for urgent diagnostic assessment such as medical imaging and endoscopy of the airway should be organised, followed again by an interdisciplinary case discussion.
In summary, use of airway classification should be encouraged in all specialities dealing with endotracheal intubation. It is routine for anaesthesiologists to formally assess the airway and to communicate airway classification at hand-overs. In contrast, this is not always the case among paediatric intensivists and neonatologists. One likely explanation for this is that broad experience leads to the confidence in naming abnormalities encountered during routine procedures. Describing irregularities upon intubation can thus be seen as an indication of a fund of experience. Ignoring facts inconsistent with a favoured hypothesis, overemphasising positive findings, and discounting negative findings is a known problem in the psychology of clinical problem solving ( Elstein). An environment in which team members can speak up using critical language to express concerns promotes good communication culture ( Leonard). These human factors in addition to correct use and interpretation of technical devices such as capnography help maximizing patient safety.
Congenital High Airway Obstruction Syndrome
Extracorporeal membrane oxygenation
Ex utero intrapartum treatment
Tracheal atresia, complex congenital cardiac abnormalities, radial ray defects, duodenal atresia
No funding was obtained.
Availability of data and materials
The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.
BG made the conception and design of the study, was responsible for acquisition of data, data analysis and interpretation, search and review of literature, and drafting of manuscript. LS participated in the acquisition of data, data analysis and interpretation, search and review of literature, drafting of manuscript, and critical review of manuscript. MR and UZ both helped with the acquisition of data, data analysis and interpretation, and critical review of manuscript. CG and GH both participated in data analysis and interpretation, search and review of literature, and critical review of manuscript. VC supervised conception and design of the study, data analysis and interpretation, search and review of literature, and critical review of manuscript. All authors have read and approved the final manuscript.
The authors declare that they have no competing interests.
Consent for publication
Written informed consent was obtained from parents for both patients for the publication of this case report, images and all information contained in it.
Ethics approval and consent to participate
Ethics approval: Not applicable. Consent to participate: Written consent for the standard medical care given to their child as described in this case study was obtained from the parents. We adhered to CARE guidelines/methodology.
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