BACKGROUND: In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to contribute thereby to the understanding and management of these conditions. Both tracheal agenesis and tracheal atresia represent rare disorders of still unknown aetiology that cannot be detected by prenatal ultrasound. If the affected foetuses survive until birth these conditions result in respiratory failure and in futile attempts to rescue the infant\'s life.
RESULTS: Autopsies and genetic analyses, including singleton or trio exome sequencing, were performed on five neonates/foetuses with tracheal agenesis and three foetuses with tracheal atresia. Tracheal agenesis was characterized by absence of the sublaryngeal trachea and presence of a bronchooesophageal fistula and by pulmonary isomerism and occurred as an isolated malformation complex or as part of a VACTERL association. Special findings were an additional so-called \'pig bronchus\' and a first case of tracheal agenesis with sirenomelia. Tracheal atresia presenting with partial obliteration of its lumen and persistence of a fibromuscular streak resulted in CHAOS. This condition was associated with normal lung lobulation and single, non-VACTERL type malformations. Trio ES revealed a novel variant of MAPK11 in one tracheal agenesis case. Its involvement in tracheooesophageal malformation is herein discussed, but remains hypothetical.
CONCLUSIONS: Tracheal agenesis and tracheal atresia represent different disease entities in terms of morphology, pathogenesis and accompanying anomalies due to a primary developmental and secondary disruptive possibly vascular disturbance, respectively.

UNASSIGNED: Innovation is broadly defined as the act of introducing a new product, idea, or process. The field of surgery is built upon innovation, revolutionizing technology, science, and tools to improve patient care. While most innovative solutions are aimed at problems with a significant patient population, the process can also be used on orphan pathologies without obvious solutions. We present a case of tracheal agenesis, a rare congenital anomaly with an overwhelming mortality and few good treatment options, that benefited from the innovation process and achieved survival with no ventilator dependence at three years of age.
UNASSIGNED: Utilizing the framework of the innovation process akin to the Stanford Biodesign Program, 1) the parameters of the clinical problem were identified, 2) previous solutions and existing technologies were analyzed, newly invented solutions were brainstormed, and value analysis of the possible solutions were carried out using crowd wisdom, and 3) the selected solution was prototyped and tested using 3D modeling, iterative testing on 3D prints of actual-sized patient parts, and eventual implementation in the patient after regulatory clearance.
UNASSIGNED: A 3D-printed external bioresorbable splint was chosen as the solution. Our patient underwent airway reconstruction with \"trachealization of the esophagus\": esophageotracheal fistula resection, esophagotracheoplasty, and placement of a 3D-printed polycaprolactone (PCL) stent for external esophageal airway support at five months of age.
UNASSIGNED: The innovation process provided our team with the guidance and imperative steps necessary to develop an innovative device for the successful management of an infant survivor with Floyd Type I tracheal agenesis.
UNASSIGNED: We present a case of tracheal agenesis, a rare congenital anomaly with an overwhelming mortality and few good treatment options, that benefited from the innovation process and achieved survival with no ventilator dependence at three years of age.The importance of this report is to reveal how the innovation process, which is typically used for problems with significant patient population, can also be used on orphan pathologies without obvious solutions.

A preterm female presented with severe respiratory distress in the delivery room and was found to have tracheal agenesis with a tracheoesophageal fistula and a congenital heart defect. Tracheal agenesis is uncommon and is often associated with other congenital abnormalities. Although there are surgical options for repair, mortality remains high.

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Pulmonary artery sling (PAS) and tracheal agenesis (TA) are rare diseases, and most cases of PAS are associated with tracheal bronchial malformations. However, PAS associated with TA is yet to be reported. We report a case of PAS with TA diagnosed prenatally. Due to the extremely low incidence, physicians do not have sufficient understanding of these diseases and it is challenging to diagnose these diseases by prenatal ultrasound, with high rates of misdiagnosis. Prenatal examination of the pulmonary artery branches, trachea, and esophagus is useful; therefore, improving the accuracy of prenatal diagnosis will help in perinatal management and counseling.

UNASSIGNED: Tracheal agenesis (TA) is rare and usually fatal. Few survivors with concomitant tracheoesophageal fistulae (TEF) who underwent ligation of the distal esophagus with creation of a spit-fistula and neo-trachea from the proximal esophagus exist. We report a novel surgical technique whereby the esophagus is divided longitudinally to preserve a functional alimentation tract and a parallel neo-trachea. We review the literature of reported cases, including survivors beyond 12 months.
UNASSIGNED: Case report and literature review.
UNASSIGNED: A female infant with prenatal polyhydramnios was born at 35 weeks gestation with immediate respiratory distress and absent cry. Oxygenation was maintained with a laryngeal mask airway. Despite a normal appearing larynx, she could not be intubated and emergent neck exploration disclosed no cervical trachea. The patient was placed on extra corporeal membranous oxygenation (ECMO), and later diagnosed with TA, Floyd Type I. Parental desire for reconstruction but refusal of a spit-fistula necessitated a novel procedure. The esophagus was divided longitudinally via a microstapler to preserve the original alimentary tract and create a parallel neo-trachea originating from the TEF and terminating as a cervical stoma. The healing process was complicated but the baby was ultimately discharged to home where she developed normally neurologically until succumbing one night to accidental decannulation at 16 months of age.
UNASSIGNED: We describe a novel surgical approach to manage TA. This includes avoiding creation of a spit fistula and preserving the native esophagus. We then survey the literature, reporting the survivorship duration and operative management of 174 reported cases of TA.

Congenital high airway obstruction syndrome (CHAOS) is a rare sequence due to a complete obstruction of the fetal airway that blocks the larynx or trachea, either intrinsic atresia or extrinsic compression (e.g., congenital neck mass). Despite the true incidence of CHAOS is unknown, an incidence of 1 per 50,000 newborns is described. If any obstruction occurs in the tracheobronchial airway, this secretion cannot be extricated. Because of this situation, a knock-on effect starts: the enlargement of the lungs squeezes the heart and great veins, what results in a replacement of the heart to the center of the chest becoming small and dysfunctional. Decreased venous return and the failure of cardiovascular system end in ascites and hydrops. The diaphragm planes or inverts according to the severity of the process. In case of unrecognized syndrome during the prenatal period, it usually results in stillbirth or death shortly after delivery. The overall prognosis remains fatal, and long-term medical and surgical challenges for survivors remain considerable even after overcoming fetal intervention.

Tracheal agenesis is a rare and often lethal congenital defect that leads to airway emergency at birth. Computed tomography (CT) is the modality of choice to evaluate anomalous tracheal anatomy. The absence of spontaneous aeration of the tracheobronchial tree in children with tracheal agenesis makes CT interpretation difficult. We describe a procedure of airway management applied in two newborns with suspected tracheal agenesis. Correct airway management was performed immediately prior to CT examination by airway ventilation, with bag-valve mask alone in one case, and attached to an endotracheal tube placed into the esophagus in the other case. The images allowed for classification of tracheal agenesis. Computed tomography with appropriate airway ventilation is fundamental for the diagnosis of tracheal agenesis.

OBJECTIVE: Tracheal atresia (TA) is a rare congenital condition that typically requires an unexpected and emergent resuscitation in the delivery room. The mortality rate associated is very high, with only a few long-term survival cases reported. We describe the findings of a systematic review on the clinical presentation and airway management of TA.
METHODS: Using the keywords \"tracheal atresia\", \"tracheal agenesis\" and \"tracheal hypoplasia\" a search through Embase and Pubmed databases was performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) protocol. Articles published from 1950 to 2015 in English, French, Italian, Portuguese and Spanish were included. Exclusion criteria were cases of stillborn, and unclear diagnosis or outcome.
RESULTS: 149 cases of TA were identified after reviewing 1125 initial references. There was a male preponderance (65%), and associated malformations were described in 94.2% of patients. Prenatal ultrasound was abnormal in 56.3% of cases, with polyhydramnios being the most common finding. The most frequent type of TA was Faro Type C. 94 (41.3%) patients did not survive beyond the first 24 h of life. Only 13 (8.4%) patients survived more than three months of life, after undergoing a variety of surgical approaches.
CONCLUSIONS: This review, which to our knowledge is the largest one to date, confirms that TA is a rare malformation, occurs more frequently in males, and has a very high mortality rate. Depending on the presence and type of concomitant malformation, as well of the length of the remaining trachea, different surgical management options are described.

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.