Tracheal agenesis clinical presentation in a preterm infant: Prenatal MRI difficulties and autopsy findings

Abstract

We describe, the clinical presentation of a rare case of Tracheal Agenesis in a preterm infant and we highlight magnetic imaging resonance (MRI) and autopsy findings to better characterize this anomaly. A 30-year-old female presented for acute polyhydramnios at 30 weeks gestation of a male foetus. Prenatal MRI was performed and excluded this diagnosis. After delivery, the neonate presented a respiratory distress. The laryngoscopy control of tube position concluded to an esophageal intubation. A second reading of antenatal MRI was made. An autopsy was performed. The internal examination of the organs revealed broncho-oesophageal fistula. The upper airways were obstructed at the larynx. Fetal MRI should be interpreted with caution when Tracheal Agenesis is highly suspected.

Tracheal agenesis: the importance of teamwork in an uncommon pathology, challenging diagnosis, and high mortality—a case report

“…In addition, it can be associated with syndromes such as CHARGE association ( 13 ) (coloboma, heart anomaly, choanal atresia, retardation of growth, and genital and ear anomalies), VACTERL (vertebral defects, anal atresia, radial dysplasia, renal defects, and cardiovascular defects) ( 4 , 9 ), TACRD (tracheal agenesis/atresia, congenital heart disease, radial defects, and duodenal atresia), or FRASER (cryptophthalmia, syndactyly, laryngeal and tracheal anomalies, and urogenital malformations) ( 1 , 2 ). This pathology can go unnoticed in prenatal diagnosis where a tracheoesophageal fistula exists, as the airway secretions flow through the digestive tract ( 6 ). However, some prenatal findings can alert clinicians, such as the presence of polyhydramnios, intrauterine growth retardation, and alterations in the umbilical vessels ( 5 , 6 ).…”

“…This pathology can go unnoticed in prenatal diagnosis where a tracheoesophageal fistula exists, as the airway secretions flow through the digestive tract ( 6 ). However, some prenatal findings can alert clinicians, such as the presence of polyhydramnios, intrauterine growth retardation, and alterations in the umbilical vessels ( 5 , 6 ). On the other hand, in types A (total pulmonary agenesis), F, and G (absence of tracheoesophageal fistula), prenatal diagnosis can be easier due to the absence of pulmonary tissue in the first case and the resemblance to congenital upper airway obstruction syndrome (CHAOS syndrome) in the remaining cases ( 14 , 15 ).…”