Failed resuscitation of a newborn due to congenital tracheal
agenesis: a case report
Koen P Dijkman1*, Peter Andriessen1, Gesina van Lijnschoten2
and Feico J Halbertsma1
Addresses:1Department of Neonatology, Máxima Medical Center, PO Box 7777, 5500 MB, Veldhoven, The Netherlands
2Pathology Laboratory [Stichting Laboratoria voor Pathologie en Medische Microbiologie (Stichting PAMM)], Michelangelolaan 2, 5623 EJ,
Eindhoven, The Netherlands
Email: KPD* - firstname.lastname@example.org; PA - email@example.com; GvL - firstname.lastname@example.org; FJH - email@example.com
Received: 19 April 2009Accepted: 12 June 2009Published: 17 July 2009
Cases Journal 2009, 2:7212doi: 10.4076/1757-1626-2-7212
This article is available from: http://casesjournal.com/casesjournal/article/view/7212
© 2009 Dijkman et al; licensee Cases Network Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0),
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Tracheal agenesis is a rare congenital condition. It usually presents as an unexpected emergency
during resuscitation of a newborn in the delivery room. The condition is almost always fatal in the
resuscitation phase, but also when the neonate survives the long term prognosis remains poor. We
present a case of tracheal agenesis, discuss its presenting symptoms and possibilities for antenatal
diagnosis and review the therapeutic options.
Tracheal agenesis is a very rare condition, with an incidence
of approximately 1 in 50.000 . It was first described in
the literature in 1900 by Payne . A classification of
various phenotypes of tracheal agenesis was proposed by
Floyd in 1962 : Type I: atresia of the proximal trachea,
with a distal segment of the trachea and normal main
bronchi and a tracheo-oesophageal fistula; Type II: atresia
of the complete trachea, normal carina and main bronchi
with or without tracheo-oesophageal fistula; Type III: the
main bronchi arise independent from the oesophagus
(Figure 1). Type I and Type III each account for 20% of the
cases of tracheal agenesis, Type II accounts for 60%. Despite
the introduction of a more extended classification by Faro
in 1979 distinguishing 7 phenotypes , Floyd’s original
classification remains most commonly used. We describe
herea case of Floyd’s type II tracheal agenesis. We discuss its
antenatal presenting symptoms, possibilities for antenatal
diagnosis and therapeutic options.
our hospital at 30 3/7 weeks gestation because of preterm
premature rupture of the membranes. There was a history
of polyhydramnion. Fetal ultrasonography had revealed
no abnormalities such as abnormal lung development or
absent gastric filling. A course of antenatal steroids was
given to induce lung maturation. At 31 weeks gestation
that there were no signs of fetal distress during labour the
newborn baby had a poor start: there were signs of severe
respiratory distress and there was no audible cry. Positive
pressure ventilation with a mask was initiated, which not
resulted in thoracic excursions and lead to further
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deterioration of the newborn. Apgar score was 1 after
1 minute and tracheal intubation was attempted with an
endotracheal tube size 3.0. Despite good visualisation of
the epiglottis and vocal cords, the tube could not pass any
further than the vocal cords. Subsequent attempts with
a tube 2.5 and tube 2.0 failed in a similar way. While
breathing spontaneous with CPAP and 100% oxygen there
were periods of visible chest excursions and brief improve-
ment of the condition of the patient. Flexible tracheoscopy
showed a blind ending larynx. Based on this finding
combined with profound hypoxia and bradycardia resus-
citation attempts were ceased. Post mortem analysis
showed a normal larynx, complete absence of the trachea,
a normal developed carina and main bronchi and a small
fistula (diameter 1 mm) between the distal oesophagus to
the right main bronchus (Figures 2 and 3). Thus classifying
this case as a type II tracheal agenesis according to Floyd.
Furthermore, the post mortem analysis revealed a lobation
defect of the right lung. The right lung consisted of one
singular lobe. Post mortem radiology studies revealed
a hemivertebra of the 11ththoracic vertebra. No further
congenital abnormalities were found.
This case illustrates a typical example of presentation and
clinical course of tracheal agenesis. Although this is a rare
condition to this date over a 100 cases have been reported
in the literature. Tracheal agenesis can present as a single
organ malformation, but in 93% more congenital abnor-
malities are encountered, including lung lobation and
vertebral defects as observed in this patient .
The embryogenesis of congenital tracheal abnormalities
is still incompletely understood. In the 3rdweek of
embryogenesis the fetal trachea and oesophagus develop
as the foregut reduces in size. Two cranial and one caudal
fold appear in the primitive foregut. Caudal movement of
the cranial folds and cranial movement of the tracheo-
oesophageal fold reduces the size of the foregut. After
separation of the foregut, a significant elongation of the
trachea and oesophagus follows. In tracheal agenesis the
developmental movements of the folds are disturbed.
Displacement of the tracheo-oesophageal space in dorsal
direction results in differentiation in the oesophagus .
As the overall outcome of tracheal agenesis is poor,
antenatal diagnosis of the condition is very important.
This allows the physicians to inform the future parents,
assess the situation and consider treatment strategies.
Antenatal identification of tracheal agenesis remains
difficult. The antenatal presenting symptom is often that
of a polyhydramnion, probably due to functional oeso-
phagus obstruction resulting from abnormal laryngeal
anatomy. Unfortunately it is not possible to make the
diagnosis by antenatal ultrasonography. Ultrasonography
however can give certain clues toward a diagnosis. In
complete obstruction of the trachea uniform hyperecho-
genic lungs may be seen with flattening of the diaphragm
due to over distension of the obstructed lungs .
Furthermore ultrasonography can reveal other anomalies
Figure 1. Floyd’s classification of tracheal agenesis.
Figure 2. Dorsal view of the mediastinum after removal of
the oesophagus, showing the normal larynx (L) and the
bronchi with the fistula (F).
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Cases Journal 2009, 2:7212http://casesjournal.com/casesjournal/article/view/7212
that are associated with tracheal agenesis. The diagnosis Download full-text
can be made by magnetic resonance imaging . While
MRI will confirm the diagnosis in selected cases, where
abnormalities found on ultrasonography will warrant
further investigation, it will be difficult to justify MRI in
all cases of isolated polyhydramnion to rule out the
possibility of tracheal agenesis.
The clinical picture is usually that of a newborn with
immediate respiratory distress at birth and no audible cry.
Direct laryngoscopy reveals a normal larynx but there is an
impossibility to advance an endotracheal tube beyond the
the oesophagus may be possibleinthepresence of a fistula.
A systematic surgical approach does not exist but limited
success of surgical management is reported . Emergency
management in the presence of a tracheo-oesophageal
fistula or a Floyd type III tracheal agenesis may consist of
temporarily using the oesophagus as an airway, and
separating the digestive tract and the respiratory tract by
oesophageal banding. A gastrostomy can be used for enteral
feeding of these neonates. Prolonged ventilation through
the oesophagus is not possible. Therefore, a solution has to
be found in a form of tracheostomy, its success depending
on the length of the distal trachea. In most cases long-term
solutions for tracheal agenesis remain very limited and the
outcome is almost always fatal [7,9,10]. It has been
suggested that the use of tissue-engineered cartilage may
improve the outcome, especially for the neonate with no or
minor other congenital abnormalities .
In conclusion: tracheal agenesis is a severe congenital
abnormality with distinct clinical symptoms. When
suspected the diagnosis can easily be made after birth.
The possibilities for prenatal diagnosis and postnatal
treatment are limited.
CPAP, Continuous positive airway pressure.
Written informed consent was obtained from the parents
of de patient for publication of this case report and
accompanying images. A copy of the written consent is
available for review by the journal’s Editor-in-Chief.
The authors declare that they have no competing interests.
KPD wrote the draft versions and final version of the
manuscript, collected data and reviewed the literature.
PA and FJH treated the patient, initiated the writing of the
case report and took part in preparation of the manuscript.
GvL analysed the autopsy of the patient, provided figures 2
and 3 and took part in preparation of the manuscript. All
authors read and approved the final version of the
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Figure 3. Dorsal view of the mediastinum after opening the
oesophagus, showing the tracheo-oesophageal fistula (F).
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