Tracheal Agenesis and Tracheal Stenosis in Perinatal Autopsies: A 13-Year Study

Abstract

Introduction: Tracheal agenesis and tracheal stenosis are rare, fatal congenital anomalies and are an acute neonatal emergency. It may be an isolated anomaly or may be associated with other congenital anomalies. Affected newborns present with inaudible cry, rapidly developing respiratory distress soon after birth rendering endotracheal intubation impossible. Despite the surgical management in these cases in experienced hands, the survivability of the newborn remains poor. Congenital High Airway Obstruction Syndrome (CHAOS), a clinico-pathological condition, complicates it further leading to fatality even with the absence of airway-oesophageal fistula. Tracheal anomalies usually form a part of VATER/VACTERL association, which includes anomalies of vertebrae (V), anal canal (A), renal (R) with Tracheo-Oesophageal fistula (TE). Radial dysplasia, cardiac anomalies and nonradial limb anomalies were later added to make it VACTERL. Perinatal autopsies performed in these cases give valuable insights to the treating physicians and surgeons about the severity of these anomalies. Aim: Since this is a very rare and lethal anomaly, we undertook this study to know the hospital based incidence and to carry out a detailed autopsy study to look for type of tracheal anomaly and other associated abnormalities. Materials and Methods: All the dead newborns and aborted fetuses which were sent for autopsy to Pathology department were examined for tracheal anomalies after obtaining the informed consent. Anthropometry was measured with respect to gestational age and analysed for external anomalies and a detailed dissection of the body was carried out. The anatomic relations of each visceral organ, structural abnormalities and histopathologic examinations were examined. Faro classification was used for type of tracheal agenesis. Results: Of the 1152 perinatal autopsies performed over a 13- year period, five cases were identified of having agenesis or stenotic tracheal anomaly. Of these, four had tracheal agenesis and one had tracheal stenosis. Three of the tracheal agenesis cases were syndromic; first was associated with VACTERL and caudal regression type V, second with VATER and third with CHAOS. As per Faro classification, two cases of type C and one each of type B and F tracheal agenesis were identified. The tracheal stenosis case also was syndromic, having VATER, CHAOS and persistent mullerian duct syndrome. Maternal ultrasound examination revealed oligo/polyhydramnios in three of these cases. Conclusion: This study highlights the significance of poly or oligohydramnios during routine anomaly scan. When present, the fetuses should be examined for anomalies in trachea and other organs by radiologic investigations especially with MRI.

Keywords

• caudal regression
• chaos
• persistent mullerian duct syndrome
• tracheal agenesis
• tracheal stenosis
• vacterl