Tracheal Agenesis: A Challenging Prenatal Diagnosis—Contribution of Fetal MRI

Abstract

Tracheal agenesis is a rare congenital anomaly. The prevalence is less than 1 : 50 000 with a male to female ratio of 2 : 1. This anomaly may be isolated but, in 93% of cases, it is part of polymalformative syndrome. The most evocative diagnosis situation is the ultrasonographic congenital high airway obstruction syndrome. Dilated airways, enlarged lungs with flattened diaphragm, fetal ascites and severe nonimmune hydrops can be observed. In the absence of a congenital high airway obstruction syndrome, the antenatal diagnosis of tracheal agenesis is difficult. Tracheal agenesis should be suspected in the presence of an unexplained polyhydramnios associated with congenital malformations. The fetal airway exploration should then be systematically performed by fetal thoracic magnetic resonance imaging. A case of Floyd's type II tracheal agenesis, detected during the postnatal period, is reported here. The retrospective reexamination of fetal magnetic resonance images showed that the antenatal diagnosis would have been easy if a systematical examination of upper airways had been performed. Prenatal diagnosis of tracheal agenesis is possible with fetal MRI but the really challenge is to think about this pathology.

Tracheal Agenesis: Rare but Challenging

“…The presence of polyhydramnios antepartum raises the suspicion of tracheal agenesis. In our case, the presence of the bronchoesophageal fistula may have allowed the evacuation of the intrapulmonary liquid and hence the bilaterally enlarged echogenic lungs seen due to intrapulmonary liquid retention in congenital high airway obstruction syndrome (CHAOS) was absent prenatally [1,2].…”

“…Tracheal agenesis (TA) is a rare and severe congenital malformation of complete or almost complete failure of trachea development [1]. Its prevalence is less than 1:50,000 with a male to female ratio of 2:1 [2,3].…”

“…Its prevalence is less than 1:50,000 with a male to female ratio of 2:1 [2,3]. It was initially described in 1900 by Payne and only few cases were published worldwide [1]. It is associated with polyhydramnios and prematurity in more than half of the cases.…”

Neonatal esophageal trachealization and esophagocarinoplasty in the treatment of flow-limited Floyd II tracheal agenesis

“…The recent handful of reports of survivors of TA can be offered as indication that surgical treatment is not futile as many recent reports declare. 16,24,25 When TA is detected prenatally, we believe that delivery at the definitive site of care with an ex utero intrapartum treatment (EXIT) strategy in place would provide the best possible chance for survival and that families may be counseled regarding the welldescribed risks of reconstruction.…”

Neonatal airway: challenging endotracheal intubation in infants with tracheal malformations at birth

“…CHAOS should be suspected in pregnancies with a history of oligohydramnios in early pregnancy and/or polyhydramnios later on in pregnancy due to compression of oesophagus resulting in decreased fetal swallowing 8. When TA without CHAOS is suspected, fetal MRI has been reported to be a promising diagnostic tool 9. Associated anomalies were detected in cases of TA and CTS.…”