The challenging airway: Tracheal agenesis in the newborn

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.

Prenatal Diagnosis and Outcome of Tracheal Agenesis as Part of Congenital High Airway Obstruction Syndrome. Case Presentation and Literature Review

Tracheal atresia is an extremely rare condition whereby a partial or total obstruction of the trachea is seen. It is almost always lethal, with just a handful of cases that ended with a good outcome. In this study we report on a 15-week male fetus, diagnosed with hyperechogenic lungs, midline heart position and inverted diaphragm. Sonographic findings suggest congenital High Airway Obstruction Syndrome (CHAOS) An ultrasound scan and fetal MRI were not able to point out the exact obstruction level. In spite of extensive counselling, the parents opted to carry on with the pregnancy. Fetal demise was noted on a scan at 19 weeks gestation. After the elective termination of pregnancy, a post-mortem examination showed partial tracheal atresia with no other anomalies. Despite technological progress in CHAOS syndrome, a precise diagnosis and accurate prognosis remain elusive.

Tracheal agenesis: a rare congenital disorder

Tracheal agenesis is a severe congenital disorder with often an emergency presentation. There is acomplete or partial absence of the trachea below the larynx, with the presence or absence of atracheoesophageal fistula. It is a rare differential diagnosis of postnatal respiratory distress and theobstetrician or neonatologist will regularly be surprised by this malformation. The etiology ofTracheal atresia is unknown, therapeutic options are limited thus making this condition a usuallyfatal disorder. In most cases, congenital anomalies of the heart, digestive tract or GUT are present.The main signs are respiratory distress and cyanosis, inability to vocalize and impossible trachealintubation. Isolated tracheal agenesis without any malformation is very rare. Here we report a caseof a preterm neonate born at 33 weeks gestation with tracheal agenesis with no other associatedmalformation. In most cases, the seldom deformation, tracheal agenesis does not get recognizedbefore the child is born.