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

Abstract

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

“…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 ). In these cases, enlarged lungs, flattened diaphragms, polyhydramnios, and hydrops fetalis are typical findings.…”

“…In these cases, enlarged lungs, flattened diaphragms, polyhydramnios, and hydrops fetalis are typical findings. If suspicion arises, fetal magnetic resonance imaging can help confirm the diagnosis ( 15 , 16 ).…”