Tracheoesophageal malformation: pathogenetic evidence provided by two cases

The aim of this observational study is to examine cases of upper respiratory atresia, in an effort to seek pathogenetic evidence suggestive of either a primary defect in embryogenesis or of a secondary etiology.

Archival material of 412 fetal and perinatal autopsies with congenital malformations was reviewed in an effort to identify infants with complete upper airway obstruction without tracheoesophageal (TE) communication. Histological sections of the upper and lower respiratory tract were examined, seeking evidence of previous amniotic fluid or meconium aspiration, indicated by the presence of amniotic squamous epithelial cells, lanugo hair, or bile-stained meconium in the airways. Immunohistochemical stain for epithelial membrane antigen (EMA) and high-molecular-weight cytokeratin (CK1) were used to identify amniotic fluid and keratinizing squamous epithelial cells.

Eight infants with upper airway obstruction were identified, three of them without a TE communication. Two of the latter, one infant with multiple atresia born at 34 weeks gestation and another with tracheal atresia born at 32 weeks, presented evidence of amniotic fluid aspiration in their lungs.

Evidence of amniotic fluid aspiration in the above two cases indicates that there had been a previous patency of the upper respiratory pathway, since the absence of a TE fistula excludes any communication with the oronasal cavity. This implicates a secondary pathogenesis for at least some cases of upper airway obstruction.