Abstract
Pulmonary artery sling (PAS) and tracheal agenesis (TA) are both very
rare diseases. Most of PAS are associated with tracheal bronchial
malformations. However, PAS associated with TA have not yet been
reported so far. Here, we report one case of PSA associated with TA
diagnosed prenatally in our hospital. Due to the extremely low incidence
of two diseases, physicians do not have sufficient understanding of
these disease, prenatal ultrasound examination found that these kinds of
diseases are very challenging and confusable. Prenatal ultrasound and
MRI examination of pulmonary artery branches, trachea and esophagus will
provide useful information. Improving the accuracy of prenatal fetal
diagnosis is helpful for perinatal management and counseling.
KEYWORDS: fetal echocardiography, pulmonary artery sling, tracheal
agenesis
1 INTRODUCTION
Pulmonary artery sling (PAS) is a rare congenital cardiovascular
malformation. In the case of PAS, the left pulmonary artery originates
from the right pulmonary artery and compresses the tracheobronchus. Most
of PAS are associated with tracheal bronchial malformations. There are
four typical classifications of PAS, Types 1A and 1B are characterized
by an aberrant left pulmonary artery causing tracheobronchial
compression with normal bronchial pattern, Types 2A and 2B are
characterized by an abnormal tracheal bronchial pattern, which are
associated with varying degrees of tracheal stenosis[1]. However, PAS associated with tracheal
agenesis (TA) is extremely rare, with no cases published in the
literature. In this study, we have described a case of PAS associated
with TA. Furthermore, we explore the feasibility of prenatal diagnosis
of two diseases.
2 CASE REPORT
A healthy 32-year-old woman, G1P0, was referred to our hospital at 39
weeks of gestation. She and her husband had no family history of
malformation. Prenatal ultrasound scanning displayed single umbilical
artery, pulmonary artery sling, tracheal compression and deformation and
hydramnios in other hospital at 24 weeks of gestation. The Down’s
screening and the cell‐free fetal DNA test showed a low risk of
aneuploidy. At 27 weeks of gestation, fetal magnetic resonance
examination indicated that the trachea was not visible, and both the
left and right tracheal branches were delicate.
Prenatal ultrasound at 39 weeks in our hospital showed that the left
pulmonary artery originated from the right pulmonary artery (Fig. 1),
the trachea and bronchus were not clearly displayed, and the fetal
esophagus was obviously dilated to below diaphragm (Fig. 2A,2B).
Combined with MRI examination, the diagnosis finally we obtained was
suspicious TA combined with tracheal esophageal fistula(TEF), and
PAS(aberrant left pulmonary artery).
The pregnant woman eventually give birth naturally at 41 weeks of
gestation. A female neonate was born. Immediately after delivery, there
was severe respiratory distress, cyanosis and no audible cry. The Apgar
scores were 1 at 1 min, 7 at 5 min, and 9 at 10 min, birth weight of
3460g. Eendotracheal intubation was attempted difficultly, but
succeeded. Then a large number of gastric contents were sucked out. The
neonate breathed difficultly, then transferred to neonatal intensive
care unit immediately. Based on the results of gastrointestinal barium
meal examination(Fig. 3) and three-dimensional reconstruction of
bronchus CT(Fig. 4), the neonate was finally diagnosed with tracheal
agenesis(Floyd type III) and PAS(aberrant left pulmonary artery). After
counseling, the family decided to withdraw the treatment after neonate
born 15 days, and the autopsy was denied.
3 DISCUSSION
The incidence rate of PAS among children is approximately 59 in 1
million[2]. In a fetus with PAS, there is no
normal pulmonary bifurcation at the bifurcate of trachea and pulmonary
artery below the aortic arch, and only the main pulmonary artery is
directly connected to the arterial canal and the right pulmonary artery.
Careful ultrasound examination, by slight adjustment of the probe, at
the level of the pulmonary bifurcation may lead to clear images of PAS,
which reveals an abnormal LPA that originates from the posterior wall of
the right pulmonary artery, traveling posterior to the trachea, and
entering the left lung[3]. The difficulty in the
diagnosis of this case is that the relationship between the left
pulmonary artery and the trachea bronchus is not clear because the
trachea is not shown.
TA is also an extremely rare kind of malformation with incidence less
than 1:50000 and far poorer prognosis, which will result in the fetal
death due to be unable to breathe after birth [4].
Thus far, around 150 cases have been reported in
literature[5]. The trachea and esophagus are
developed from the embryonic primitive foregut. On the 21-26th day, the
foregut is separated by the mesoderm ridge growing towards it, in this
way the ventral part forms the trachea and the dorsal part forms the
esophagus. If things went wrong during the growth and fusion of
mesodermal ridge, it would cause various types of tracheal atresia and
tracheoesophageal fistula. TA was classified into three types by Floyd
et al[6]. Type I: accounting for 10%, the trachea
is absent except for a short distal segment with normal carina. There is
a tracheoesophageal fistula connecting the distal part of the trachea to
the oesophagus. Type II: covering at most 59%, the trachea is absent
completely; the two main bronchi join at the carina and in almost all
cases there is a carino-oesopha-geal fistula. Type III: the trachea and
carina are absent and each of the main bronchi join the oesophagus from
either side. This clinical case belongs to Floyd type III. It is a great
challenge for prenatal ultrasound examination to detect such
disease[7]. During fetal development, alveoli
secretes fluid under normal conditions, which forms the liquid membrane
in lungs to maintain the normal development of lungs, while the fluid
can communicate with amniotic fluid through trachea-larynx-oronasal
cavity and then be discharged. When TA occured together with TEF, the
lung fluid can be discharged into esophagus through fistula, which cause
the enlargement of the esophagus, but the lungs are normal. Therefore,
it is great difficulty in definitive prenatally diagnosis of TA[8]. In this case, the enlarged esophagus was
detected behind the atrium of the fetus, communicating upward with the
pharynx and downward with the stomach bubble through the diaphragm. The
trachea was not shown by ultrasound and MRI. All of above mentioned was
help to make the diagnosis of TA with TEF in prenatal.
The prognosis for patients with PAS is largely affected by the
occurrence of respiratory complications. The vascular circle formed by
PAS can partially surround and compress the trachea and esophagus. If
not treated in a timely manner, the mortality rate is extremely high.
However, there is no vascular ring in our case, the lack of the trachea
is more troubling. Airway management in TA has proven to be an
insurmountable challenge in most cases resulting in infant mortality.
Therefore, the prognosis of this case was very poor and subsequent
treatment had to be abandoned.
4 Conclusion
PAS and TA are both very rare diseases, they occur simultaneously are
unprecedented. Due to the extremely low incidence of PAS and TA,
physicians do not have sufficient understanding of this disease,
prenatal ultrasound examination found that these kinds of diseases are
very challenging and confusable. Prenatal ultrasound and MRI examination
of pulmonary artery branches, trachea and esophagus will provide useful
information. Improving the accuracy of prenatal fetal diagnosis is
helpful for perinatal management and counseling.
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