title: 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.
authors.affiliation: Pôle de Gynécologie-Obstétrique, CHU de Nancy, Université de Lorraine, 10 rue du Docteur Heydenreich, 54 000 Nancy, France.
authors.forename: Charline
authors.identifier: 0000-0001-9297-5363
authors.initials: C
authors.lastname: Bertholdt
authors.affiliation: Pôle de Gynécologie-Obstétrique, CHU de Nancy, Université de Lorraine, 10 rue du Docteur Heydenreich, 54 000 Nancy, France ; Unité INSERM U 947, Nancy, Université de Lorraine, CHU de Brabois, Tour Drouet, rue du Morvan, 54511 Vandoeuvre-lès-Nancy, France.
authors.forename: Estelle
authors.initials: E
authors.lastname: Perdriolle-Galet
authors.affiliation: Pôle d'Imagerie Médicale, CHU de Nancy, Université de Lorraine, 10 rue du Docteur Heydenreich, 54 000 Nancy, France.
authors.forename: Pascale
authors.initials: P
authors.lastname: Bach-Segura
authors.affiliation: Pôle de Gynécologie-Obstétrique, CHU de Nancy, Université de Lorraine, 10 rue du Docteur Heydenreich, 54 000 Nancy, France ; Unité INSERM U 947, Nancy, Université de Lorraine, CHU de Brabois, Tour Drouet, rue du Morvan, 54511 Vandoeuvre-lès-Nancy, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Morel
references.citation: J Pediatr Surg. 2005 Oct;40(10):e7-10
references.pmid: 16226975
references.citation: Masui. 1998 Apr;47(4):487-9
references.pmid: 9594525
references.citation: Fetal Diagn Ther. 2009;26(2):93-7
references.pmid: 19816035
references.citation: Pediatr Radiol. 2013 Oct;43(10):1385-90
references.pmid: 23567909
references.citation: Am Rev Respir Dis. 1962 Oct;86:557-60
references.pmid: 13945641
references.citation: Eur J Pediatr. 2012 Mar;171(3):425-31
references.pmid: 21918809
references.citation: Mcgill J Med. 2011 Jun;13(1):10
references.pmid: 22363177
references.citation: Pediatr Radiol. 2010 Nov;40(11):1800-5
references.pmid: 20737145