Some congenital anomalies are not amenable to surgical treatment. Tracheal agenesis is one such congenital anomaly with limited therapeutic options. This lethal defect has an incidence of 2 per 1,00,000 live births [1]. It was first described by Payne in 1900 and later classified into 3 types by Floyd[2,3]. So far close to 200 cases have been reported in the literature with only a handful of cases reporting long-term survival [4]. It is frequently combined with other anomalies of the vertebrae, anal atresia, cardiovascular anomalies, tracheoesophageal atresia, renal/radial anomalies and limb defects(VACTERL)and tracheal agenesis, cardiac, renal and duodenal malformation (TACARD association) [5]. We report a case of antenatally unknown tracheal agenesis with no other major abnormalities and reviewed the literature.

A male infant was born to a 23-year-old primi mother by cesarean section. There was no history of consanguinity. Pregnancy was complicated by polyhydramnios but a routine antenatal ultrasound did not pick up any abnormality. The baby was born at 33 weeks of gestation because of the preterm onset of labor and fetal bradycardia. The infant was severely depressed at birth with a 1-min Apgar score of 2. There was no audible cry. The birth weight of the baby was 1750 grams. Positive pressure ventilation was started with a bag and mask, but there was no adequate chest rise. Direct laryngoscopy revealed a visible glottic plane with unaffected vocal cord mobility, but it was impossible to advance tracheal tubes of various sizes beyond the vocal cords.

Examination showed a hypoxic newborn with a PO2 of 57, with a blood pH of 6.9 and a PCO2 of 112. Mask ventilation was also difficult, but an O2 saturation of 87-90% was achieved following the administration of 75% FiO₂. Chest X-ray was done which didn’t show any tracheal shadow- likely possibility of tracheal atresia. Esophageal intubation showed an improvement in saturations, suggesting communication between the respiratory and gastrointestinal tract.

An urgent referral was made to the otorhinolaryngologist. Once stabilized, the perinatal patient was immediately transferred to the operating room of a tertiary pediatric medical centre.

The patient died within 6 hours of birth. Parents were not willing for autopsy.

Tracheal agenesis is a rare congenital defect that confronts Obstetricians, Neonatologists and Anesthesiologists with an emergency presentation. The diagnosis should be suspected in newborns with respiratory distress whose intubation is impossible. This condition has a male predominance and is often associated with prematurity and polyhydramnios [3,6]. The etiology remains unknown, although several developmental theories have been proposed. TA (Tracheal agenesis) is best explained by the recent theory that states that the lower respiratory tract develops as a respiratory diverticulum from the ventral aspect of the foregut which then elongates caudally to form the trachea. This is different from the earlier accepted theory that caudocranial fusion of the lateral ridges results in the division of the foregut into the ventral trachea and dorsal esophagus. The new hypothesis is based on an analysis of anomalous Tracheal oesophagal development in doxorubicin-exposed rat embryos. TA occurs with the development of a ventral rather than a dorsal pouch from the upper foregut, resulting in an atretic proximal trachea, while dorsal to that the foregut differentiates into the esophagus [7,8].

Tracheal agenesis is usually classified according to Floyd into three types (Fig. 1)3. In type I (10%) the trachea is absent, except for a short caudal part, and there is a normal carina. In type II (59 %) the complete trachea is lacking but both main bronchi join in the midline. In type III (31%) both the main bronchi run separately into the oesophagus; these connections are often referred to as broncho- oesophagal fistula [3]. Almost invariably the esophagus communicates with the trachea or bronchi; only in type II, a few exceptional cases without a fistula been described [2,9].

Antenatal diagnosis of the condition provides an early warning and greater preparedness to handle the situation.. However, our case was not antenatally diagnosed and the infant’s condition deteriorated rapidly despite possibly esophageal intubation with bag-mask ventilation.

This case report highlights that a potentially lethal anomaly like TA can exist in a presumably uncomplicated pregnancy. The presence of respiratory distress with an inaudible cry and inability to intubate should raise suspicion of this condition. Proper counseling of the parents is needed immediately after birth to prepare the parents for this potentially lethal condition.