Protective effect of fetal pulmonary sequestration in two cases of postnatal manifestation of congenital diaphragmatic hernia.

Abstract

We describe two cases of postnatally diagnosed congenital diaphragmatic hernia (CDH) combined with pulmonary sequestration, both of which were diagnosed as isolated pulmonary sequestration on prenatal ultrasound. In these cases, prenatal ultrasonography demonstrated only a hyperechoic mass on the left lower lung and the diaphragm seemed intact. In each case both lungs showed otherwise normal development throughout pregnancy. Pulmonary sequestration may serve as a 'protector', preventing herniation of abdominal contents into the thoracic cavity. The co-occurrence of CDH may be obscured by a lung mass, especially on the left lower lung, and therefore it is necessary to deliver these infants at a tertiary center and parents should be counseled about the possibility of postnatal CDH.

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Ultrasound Obstet Gynecol 2012; 39: 719–722
Published online in Wiley Online Library (wileyonlinelibrary.com). DOI: 10.1002/uog.10099
Protective effect of fetal pulmonary sequestration in two
cases of postnatal manifestation of congenital diaphragmatic
hernia
M.-Y. LEE*, H.-S. WON*, J.-Y. SHIM*, P.-R. LEE*, B. S. LEE†, E. A.-R. KIM†, K.-S. KIM†
and A. KIM*
*Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea; †Division of
Neonatology, Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
KEYWORDS: congenital diaphragmatic fetal lung mass; hernia; infradiaphragmatic pulmonary sequestration; pulmonary
sequestration; ultrasound
ABSTRACT
We describe two cases of postnatally diagnosed congenital
diaphragmatic hernia (CDH) combined with pulmonary
sequestration, both of which were diagnosed as isolated
pulmonary sequestration on prenatal ultrasound. In
these cases, prenatal ultrasonography demonstrated only
a hyperechoic mass on the left lower lung and the
diaphragm seemed intact. In each case both lungs showed
otherwise normal development throughout pregnancy.
Pulmonary sequestration may serve as a ‘protector’,
preventing herniation of abdominal contents into the
thoracic cavity. The co-occurrence of CDH may be
obscured by a lung mass, especially on the left lower lung,
and therefore it is necessary to deliver these infants at a
tertiary center and parents should be counseled about the
possibility of postnatal CDH. Copyright  2012 ISUOG.
Published by John Wiley & Sons, Ltd.
CASE REPORTS
Case 1
A 35-year-old multigravida was referred to our fetal
treatment center for a fetal lung mass at 22+6 weeks
of gestation. Ultrasound examinations were performed
using a ProSound α 10 (Aloka Co., Ltd, Tokyo, Japan)
with a 2–6-MHz transabdominal probe. The initial
examination showed a hyperechoic, homogeneous and
well-defined mass, 25 mm in maximum diameter, on the
left lower lung with minimal mediastinal shift. There was
no apparent feeding artery from the aorta. The diaphragm
was intact and the stomach was in its normal position.
There were no other abnormalities. Follow-up ultrasound
at 31+6 weeks of gestation showed a slightly increased
mass, 32 mm in size, in the same area (Figure 1a) with
a feeding artery from the celiac trunk (Figure 1b). Both
lungs showed otherwise normal development and the
stomach was still in its normal position (Figure 1c).
Ultrasound examination before delivery demonstrated
a normal appearance of the plane of abdominal
circumference, with no evidence of herniation of the
abdominalcontents.Amaleinfantwasdeliveredvaginally
at 38+4 weeks of gestation in good condition and did
not require any resuscitation. After birth, vital signs
were stable and oxygen saturation was maintained above
95% during feeding. Initial chest radiography showed
stomach gas in the left hemithorax, and chest computed
tomography (CT) showed a left congenital diaphragmatic
hernia (CDH) combined with an extralobar sequestration
(ELS), 33 mm in size (Figure 2). The CDH was repaired
2 daysafterbirth.Operativefindingsshowedthestomach,
spleen and small bowel to be herniated. The infant was
doing well at 1 month of follow-up.
Case 2
A 35-year-old primigravida was referred to our fetal
treatment center for a fetal lung mass at 21+6 weeks of
gestation. Ultrasound examinations were performed using
an Accuvix XQ (Medison Co., Ltd, Seoul, Korea) with a
2–6-MHz transabdominal probe. The initial examination
showed a hyperechoic, homogeneous mass on the left
lower lung, of 25 mm in maximum diameter, the blood
supply to which was from the descending aorta, with
mediastinal shift. There were no other abnormalities.
Follow-up ultrasound 5 weeks later revealed two separate
masses: a mass of 38 mm within the thoracic cavity
that had increased in size (Figure 3a); and a mass of
Correspondence to: Dr H.-S. Won, Department of Obstetrics and Gynecology, Asan Medical Center, 88, Olympic-ro 43-gil, Songpa-gu,
Seoul, Korea (e-mail: hswon@amc.seoul.kr)
Accepted: 27 August 2011
Copyright  2012 ISUOG. Published by John Wiley & Sons, Ltd.CASE REPORT

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Lee et al.
Figure 1 Ultrasound findings at 31+6 weeks of gestation (Case 1), showing a hyperechoic mass on the left lower lung (a) with a feeding
artery from the celiac trunk (arrow) (b). Congenital diaphragmatic hernia was ruled out by the presence of a fluid-filled stomach in the
normal position (c).
Figure 2 Postnatal chest computed tomography showing extralobar
pulmonary sequestration (EPS) (white arrow) on the left lower lung
combined with intrathoracic herniation of the stomach (black
arrow).
22 mm in the left suprarenal area (Figure 3b). The
stomach and the liver were in their normal positions
(Figure 3c) and two separate feeding arteries from
the descending aorta were observed (Figure 3d). We
diagnosed the fetus with intrathoracic combined with
infradiaphragmatic pulmonary sequestration. The last
ultrasound examination before delivery at 40+1 weeks
of gestation showed that the stomach was still in
its normal position (Figure 3e). A male infant was
delivered by Cesarean section at 40+2 weeks of
gestation without any respiratory problems. Intralobar
sequestration (ILS) with infradiaphragmatic pulmonary
sequestration was confirmed by postnatal chest CT.
Immediate surgery was not required and the pediatrician
decided to discharge the infant for follow-up in
the outpatient department. Two months later, the
infant was admitted because of suspected pneumonia.
Chest radiography and ultrasonography demonstrated
multiple air bubbles in the left hemithorax with
mediastinal shifting to the right (Figure 4). Emergency
reduction of the small and large bowel, repair of CDH,
segmentectomy of the left lower lung and resection of
the infradiaphragmatic pulmonary sequestration were
performed simultaneously. The pathological finding was
pulmonary sequestration. At 35 months’ follow-up, the
infant is doing well and no other abnormalities have been
found.
DISCUSSION
To our knowledge, this is the first report of confirmed
postnatal CDH combined with prenatally diagnosed pul-
monary sequestration. Although pulmonary sequestration
has been associated with CDH1–3, most previous reports
were based on postnatal series. A study of 14 cases of
concomitantly diagnosed CDH and pulmonary sequestra-
tion in the fetal or neonatal period reported that, in all of
these, at least CDH was diagnosed prenatally4.
Pulmonary sequestration is a rare congenital lesion
consisting of non-functioning lung tissue that is not
connected to the normal tracheobronchial tree and is
supplied directly from the systemic circulation5. There are
twotypesofpulmonarysequestration,ELSandILS,which
are based on location, with associated anomalies being
more frequent in ELS6. These anomalies include CDH,
congenital heart disease, congenital cystic adenomatoid
malformation (CCAM) and foregut anomalies6,7. The
relationship between pulmonary sequestration and CDH
may be explained by the hypothesis that pulmonary
sequestration, which develops at 4–5 weeks of gestation,
can disturb the fusion of the diaphragm and closure
of the pleuroperitoneal canal occurring at 10 weeks of
gestation8. In most cases, pulmonary sequestration is
detected by ultrasound in the plane of the four-chamber
cardiac view as a hyperechoic solid mass, whereas the
abdominal contents are visible in this plane in cases
with CDH1–3. In about half of fetuses with pulmonary
sequestration, the mass regresses prenatally and postnatal
surgery is not required. Expectant antenatal management
in pulmonary sequestration without any complications,
Copyright  2012 ISUOG. Published by John Wiley & Sons, Ltd.
Ultrasound Obstet Gynecol 2012; 39: 719–722.

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Pulmonary sequestration and postnatal CDH
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such as fetal hydrops or pleural effusion, is associated
with an excellent prognosis9. However, the prognosis of
pulmonary sequestration combined with CDH remains
unclear.
We have described two infants with prenatally
diagnosed pulmonary sequestration that were confirmed
to have concomitant CDH after birth. In both cases,
Figure 3 Sonographic features of intrathoracic combined with
infradiaphragmatic pulmonary sequestration at 27 weeks of
gestation (Case 2), showing a 38-mm intrathoracic mass
(a) combined with a 22-mm mass on the left suprarenal area (b).
The stomach and liver were in their normal positions (c) and two
separate feeding vessels from the descending aorta were observed
(arrows) (d). Follow-up sonography at 40+1 weeks of gestation
showed a normal appearance of the plane of abdominal
circumference (e).
although the pulmonary sequestration may have been
involved in the etiology of the diaphragmatic defect,
it seems to have served as a ‘protector’ rather than
as an ‘anatomical barrier’ later during pregnancy, thus
preventing herniation of the abdominal contents into
the thoracic cavity and allowing otherwise normal
development of both lungs throughout the pregnancy.
This hypothesis is supported by the prenatal sonographic
findings in both cases, in which it was noted that the
stomach and the liver were in their normal positions
until just before birth, thus indicating that CDH did
not develop until birth. It is likely that the mechanism
of postnatal development of CDH involves multiple,
concomitant factors, such as extent of the defect size of
the diaphragm, extent of the pulmonary sequestration and
extent of the increases in intra-abdominal pressure caused
by the duration of labor, mode of delivery, breathing and
Copyright  2012 ISUOG. Published by John Wiley & Sons, Ltd.
Ultrasound Obstet Gynecol 2012; 39: 719–722.

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Lee et al.
Figure 4 Postnatal chest radiography showing normal findings after
delivery (a) and multiple air bubbles in the left hemithorax with
mediastinal shift to the right 2 months later (b).
crying after birth, resuscitation of the infant or positive
pressure ventilation.
There have been a number of studies that aimed to
determine the optimal mode of delivery for infants with
CDH. The outcome of infants with CDH delivered by
different methods (i.e. Cesarean section or vaginal deliv-
ery) did not show a significant difference10,11. Based on
this finding, as the duration of labor or vaginal delivery
does not worsen an infant’s prognosis, it is thus unlikely
that the herniation of abdominal contents becomes more
extensive during labor or vaginal delivery.
In Case 1, pulmonary sequestration was not larger than
the defect size of the diaphragm, which was confirmed
by the surgical findings. We hypothesize that as the intra-
abdominal pressure increased when the infant cried, the
protective effect of the pulmonary sequestration was no
longer sufficient and the abdominal contents were dis-
placed into the thoracic cavity through the defect in the
diaphragm. Therefore, the signs of CDH on chest radio-
graphy developed immediately after the patient’s birth.
However,inCase2,thetwomasseswerestilllargeenough
at birth to prevent the abdominal organs from becoming
herniated. Two months later, as pulmonary sequestration
regressed, the symptoms and signs of CDH developed.
The pathological findings following tumor resection were
an ILS of 16 mm in size, demonstrating a marked reduc-
tion, and an infradiaphragmatic pulmonary sequestration
of 26 mm in size. The size of the defect of the diaphragm
was 20 mm. Although it has been hypothesized that the
presence of pulmonary sequestration may be protective
in fetuses with CDH, this is the first report to show
a good prognosis associated with the two simultaneous
conditions.
Interestingly, Case 2 represents an extremely rare con-
dition, in that both ILS and ELS were found in association
with CDH. To our knowledge, this is the first reported
case of this combination of findings. Infradiaphragmatic
ELS is an unusual finding and the combination of ILS and
ELS is even rarer. Twelve patients with coexisting ILS and
ELS have been previously described12, none of whom was
diagnosed prenatally. As infradiaphragmatic ELS is rare,
its natural history is still not known; however, surgical
resection is recommended because malignant transforma-
tion has been documented13.
Although infants with pulmonary sequestration have
a good prognosis, the co-occurrence of CDH may be
obscured by a lung mass, especially on the left lower
lung. Therefore, it is necessary to deliver these infants at
a tertiary center and parents should be counseled about
the possibility of postnatal CDH.
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Ultrasound Obstet Gynecol 2012; 39: 719–722.