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JAY GREENSPAN, MD KSENIA ZUKOWSKY, RNC, PHD, CRNP Section Editors

Congenital Diaphragmatic Hernia

Advanced Physiology and Care Concepts
Kathleen S. Hartnett, MSN, RNC, NNP

ABSTRACT
Congenital diaphragmatic hernia (CDH) is a defect in the formation of the diaphragm of the fetus. The diaphragm is the
muscle and tissue that separate the chest and the abdominal cavities. In CDH, abdominal organs push into the chest cav-
ity through the defect or herniation, compressing the developing lungs. During the past 10 years, significant changes
have occurred in the diagnosis and management of CDH. Despite advances in postnatal care, infants born with a CDH
continue to suffer substantial morbidity and mortality. Healthcare providers continue to research therapeutic approaches
that will improve the care and optimize survival in these infants. The purpose of this article is to offer an in-depth explo-
ration of neonatal physiology and pathophysiology, providing advanced concepts that expand the scientific basis for
neonatal care practices.
KEY WORDS: congenital diaphragmatic hernia, diaphragm, hernia, infant, lungs, newborn intensive care unit.

C
ongenital refers to being present at birth, and
herniation is a condition in which something
extends into an abnormal opening where it
should not. In a newborn with a congenital diaphrag-
matic hernia (CDH), the abnormal opening is in the
diaphragm with herniation of abdominal contents into
the chest cavity. The diaphragm is the chief muscle of
inspiration that separates the chest cavity from the
abdominal cavity. The diaphragm is normally fully
formed by the end of the third month of pregnancy.1,2
In infants with CDH, one of the components of
diaphragm does not form properly, creating a defect
that allows some of the intestines to enter into the chest
cavity. The intestines take up space in the chest, which
in turn prevents adequate lung development and
growth. The lungs are often small because of the lack of
space during maturation. A CDH occurs in 1 of every
2000 to 4000 live births and equals approximately 8%
of all abnormalities seen in the newborn.3,4 CDH is not
always an isolated condition and there are often other
anomalies associated. The presence of associated
anomalies increases the risk of mortality 2-fold in com-
Address for correspondence: Kathleen S. Hartnett, MSN, RNC,
NNP, 3408 Parkside Drive Pearland, Texas 77584;
hartnett_ck@sbcglobal.net.
Author Affiliation: Neonatal Nurse Practitioner Service, Texas
Childrens Hospital, Houston.
Copyright 2008 by the National Association of
Neonatal Nurses.
parison with patients with isolated CDH.4,5 Associated
anomalies may include cardiac defects, neural tube
defects, chromosomal, renal, and genital anomalies.
Depending on the size of the defect, the lungs of
infants with CDH may be so small that the infants
may have difficulty breathing. Most infants will need
to be placed on mechanical ventilation. The most
severe cases may necessitate the need to be placed on
extracorporeal membrane oxygenation (ECMO).
The defect in the diaphragm is usually repaired after
the infant is stable, which may occur as soon as a few
hours or as long as a few weeks after delivery. This
article will explore fetal development, clinical mani-
festations, delivery room and preoperative care, fol-
lowed by postoperative care, outcomes, and the jour-
ney home for infants with CDH.
FETAL DEVELOPMENT
The thorax is a closed compartment bound at the
neck by muscles and connective tissues and com-
pletely separated from the abdomen by a large,
dome-shaped sheet of skeletal muscle, which is the
diaphragm. In infants with CDH, the complication in
fetal development occurs between the third and
eighth week of gestation. The diaphragm develops
from 4 components including the septum transver-
sum, the pleuroperitoneal membranes, the dorsal
mesentery of the esophagus, and from growth of
muscle inward from the lateral body walls.1,2 The
transverse septum grows out from the ventrolateral

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108 Hartnett
body wall and separates the heart from the liver. A
large part of the liver is included in this septum dur-
ing its early development. This septum does not com-
pletely separate the thorax and abdominal cavity. A
large opening remains on each side of the esophagus
called the pericardialperitoneal canal (Figure 1).
The pleuroperitoneal membranes grow out from
the caudal end of the pericardioperitoneal canals,
and extend medially and ventrally. By the seventh
week, they fuse with the mesentery of the esophagus
and with the septum transversum. This completes the
separation between the thoracic and abdominal cav-
ities and forms the early diaphragm.1,2
During the 9th to 12th weeks, the lungs and pleu-
ral cavities enlarge, with formation of 2 layers of
body-wall tissue. The internal layer contributes to
peripheral parts of the diaphragm, external to the
parts derived from the pleuroperitoneal membranes.
As the pleural cavities extend into the lateral body
walls, the characteristic dome shape of the
diaphragm becomes apparent.
During the fifth week of gestation, primordial mus-
cle cells and nerve fibers migrate into the developing
diaphragm. The phrenic nerves supply motor inner-
vation and sensory fibers to the superior and inferior
surfaces of the diaphragm. These nerves lengthen as
the embryo grows, and the diaphragm moves down-
ward or caudally in the body. As the 4 parts of the
diaphragm fuse, the mesenchyme in the septum
transversum extends into the other 3 parts. It forms
myoblasts that differentiate into the skeletal muscle of
the diaphragm.1,2
Congenital anomalies of the diaphragm are due to
either fusion defects or a defect in the formation of
the diaphragmatic muscle.15 Defects in phrenic
nerve development or abnormalities in development
of the adjacent lung have also been suggested as
causes.6,7 The cause is unknown and is most likely
FIGURE 1.
Embryonic formation of the diaphragm.2 Used with permission.
multifactorial, but there is some suggestion that
genetic factors may also play a role in the develop-
ment of CHD.7
Ninety percent of CDHs occur on the left side,
possibly because anatomically, the liver acts as a pro-
tectant to keep the intestines down on the right side.3
The pericardioperitoneal canal is also larger on the
left side than on the right side and closes later.4,6
At approximately 10 weeks gestation, the devel-
oping intestines reenter the abdominal cavity. If the
diaphragm is incomplete, the intestines can migrate
into the chest cavity.1,2 As intestine and other viscera
enter the thorax, they lead to compression of the
developing lung on the affected side during the cru-
cial developing stages. This prevents normal growth
and development of the affected lung.38 Lung com-
pression by the herniated bowel results in pulmonary
hypoplasia, which is underdevelopment of the lungs.
This may also occur on the contralateral side if a large
amount of abdominal contents causes the medi-
astinum to shift, compressing the lung on the non-
affected side (Figure 2).
There are 2 types of diaphragmatic hernias:
Bochdalek and Morgagni. A Bochdalek diaphrag-
matic hernia is an anatomic defect in the posterior lat-
eral aspect of the diaphragm that allows the abdomi-
nal viscera, the stomach, intestines, liver, or spleen to
herniate into the thorax. In a Bochdalek hernia, the
diaphragm may not develop properly, or the intes-
tines may become trapped in the chest cavity as the
diaphragm is forming. Consequently, the lung tissue
on the affected side does not completely develop.
The pathophysiology of this phenomenon is unclear.
Anatomically, the liver is a protectant to keep the
intestines down on the right side; therefore a left-
sided herniation is more common.4,6,7
A Morgagni hernia is rarer and involves an open-
ing in the front of the diaphragm, just behind the
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FIGURE 2.
Special Embryology. Used with permission from Sadler.2
breastbone, leading to a hernia through small con-
genital defects in the anterior diaphragm. The liver or
intestines may move up into the chest cavity with
either type of hernia. The intestines, when relocated
in the chest, may not develop properly because of a
lack of blood supply during development. Good
blood supply is required for the intestine to develop
and function correctly (Figure 3).
PATHOPHYSIOLOGY OF DISEASE
IN THE INFANT
In many infants with CDH, the lungs are immature
even at full-term gestation, appearing arrested in the
FIGURE 3.
Morgagni Hernia. Photo courtesy of Dr Gerardo A.
Cabrera-Meza.
Advances in Neonatal Care Vol. 8, No. 2
Congenital Diaphragmatic Hernia 109
secular phase of development with fewer septa,
thicker interstitium, and fewer capillaries.4 In animal
studies, insufficient surfactant phospholipids and pro-
teins are seen and the surfactant that is produced has
impaired biophysical properties35,8 This insufficient
surfactant contributes to lung immaturity and the res-
piratory distress that is seen soon after birth. In addi-
tion, lungs affected by congenital diaphragmatic her-
nia have a reduced antioxidant response, suggesting
they are also more prone to oxygen-induced injuries.
These factors along with the abnormal lung develop-
ment make them more susceptible to ventilator-
induced injury.3,4
The respiratory pathophysiology of CDH involves
pulmonary hypoplasia, pulmonary hypertension due
to inadequate development of the pulmonary arteri-
oles with increased musculature,4 pulmonary imma-
turity, and potential deficiencies in the surfactant and
antioxidant enzyme system. Because of the bowel
herniation into the chest during the crucial stages of
lung development, airway divisions in each hemi-
sphere in the lung are limited; only the 12th and 14th
generations develop on the affected side and only up
to the 16th to 18th generations develop on the con-
tralateral side.4,5 Normally, airway development
would result in 23 to 35 divisions.4,5 Alveolarization
is reduced in infants with CDH because the airspace
needed for development follows airway develop-
ment. Development of the pulmonary arterial system
parallels development of the bronchial tree, and
therefore, fewer arterial branches are observed in
CDH.
The decrease in both the number and size of the
respiratory units, and the corresponding decrease in
pulmonary vascular beds, leads to increased pul-
monary vascular resistance. Increase in the medial
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110 Hartnett
muscle layer of pulmonary vessels leads to develop-
ment of persistent pulmonary hypertension.4 Because
of the abnormal medial muscular hypertrophy as dis-
tally as the acinar arterioles, the pulmonary vessels
are more sensitive to stimuli that cause vasoconstric-
tion. Pulmonary hypertension resulting from arterial
anomalies and muscularization leads to right-to-left
shunting in the atrium through the foramen ovale
and through the ductus arteriosus. This shunting
leads to right-sided heart strain or failure and the
vicious cycle of progressive hypoxemia, hypercarbia,
acidosis, and pulmonary hypertension is observed in
the neonatal period.
After delivery of a neonate with CDH, maldevel-
opment of the lung may contribute to the develop-
ment of pulmonary parenchymal insufficiency due to
a small amount of functioning lung and pulmonary
hypertension.4,6 In pulmonary hypoplasia, there are
fewer alveoli than normal and they may be abnormal
or poorly developed. Some infants have so few con-
ducting air passages and undeveloped alveoli that
survival is unlikely. Although, there may be some
functional alveoli that are partially able to fill with air,
they may deflate because of a lack of a lubricating
fluid called surfactant. When these conditions are
present, the infant is unable to oxygenate and venti-
late adequately.
Infants with CDH are predisposed anatomically to
pulmonary hypertension of the newborn. When the
intestines fill with swallowed air, the lungs are further
compressed, superimposing atelectasis on the pul-
monary hypoplasia.4,8 Depending on the degree of
pulmonary compression by the herniated intestine,
the decreased amount of bronchial branching, the
limited number of alveoli, and the persistent muscu-
lar hypertrophy in pulmonary arteriolesall con-
tribute to the pulmonary hypertension.4,6 This con-
tributes to the severe hypercarbia and hypoxemia
with large right-to-left shunts at the atrial and ductal
levels seen in these infants. The pulmonary hyperten-
sion has a fixed element because of the vascular
anatomic changes associated with pulmonary
hypoplasia, and a reactive vasoconstrictive element
induced by an interaction or mediator. Pulmonary
vasoconstriction progresses with continual shunting,
worsening the acidosis, and hypoxia, leading to a
vicious cycle of clinical deterioration.
Cardiac anomalies comprise about two thirds of
the associated anomalies with CDH.2,4,7 The cardiac
anomalies include hypoplastic left heart syndrome,
atrial septal defect, ventricular septal defect, coarcta-
tion of the aorta, and Ebsteins anomaly.2,4,7 The heart
may also be affected because of the decreased blood
flow in utero to the left ventricle, leading to a
decrease in left ventricular size and hypoplasia.
Increased pressure on the heart from the hernia may
also contribute to alteration in blood flow as well as
in development of the left atrium and ventricle. A
resulting increase in blood flow in the right side of the
heart leads to an increase in size.4
CLINICAL MANIFESTATIONS
Diagnostic Evaluations
With the use of ultrasonographic techniques, CDH can
be detected in the antenatal period. Ultrasonography
may reveal polyhydramnios; an absent or intrathoracic
stomach bubble, and mediastinal and cardiac shift
away from the side of the hernia.4,8 It can demonstrate
the dynamic nature of the visceral herniation observed
with CDH as it moves in and out of the chest in the
fetus. Measurement of maternal serum -fetoprotein is
useful in identifying infants who have CDH.4 A low
maternal serum -fetoprotein concentration should
prompt additional diagnostic testing.
After diagnosis by ultrasonography, it is important
to determine whether the defect is isolated or associ-
ated with other anomalies. The most likely abnormal-
ities are trisomy 13 and 18, 3p microdeletion, and
12p tetrasomy.1,2,7 Hydrops fetalis is rarely seen, but
may occur from mediastinal shift and compression of
the great vessels.4
An early chest radiography after delivery is used
to confirm the diagnosis of CDH. Radiographic
findings include loops of bowel in the chest, medi-
astinal shift, paucity of bowel gas in the abdomen,
and the presence of the tip of a nasogastric tube in
the thoracic stomach (Figure 3). Repeated chest
radiography may reveal a change in the intratho-
racic gas pattern. Right-sided lesions are difficult to
differentiate from diaphragmatic eventration and
lobar consolidation.
Diagnostic evaluation also includes echocardiog-
raphy, which may identify cardiac anomalies such as
ventricular hypoplasia, atrial septal defects, and ven-
tricular septal defects. In addition to cardiac defects,
decreased left ventricular mass, poor ventricular
contractility, pulmonary, and tricuspid valve regur-
gitation may be seen. Echocardiography usually
identifies the high pulmonary pressures, and with
the use of Doppler flow, the actual shunt can be
identified.
Delivery Room Care and Therapeutic
Approaches to Management
Antenatal diagnosis of CDH has allowed optimal
immediate care of affected infants. Parents should be
educated about the diagnosis and potential treatment
modalities. The delivery of medical and surgical care
includes perinatology, neonatology, and pediatric
surgical services. Birth at a tertiary care center that
has pediatric surgery and neonatology services as
well as advanced therapies is desirable.9,10
Clinical findings vary with the presence of associ-
ated anomalies and the degree of pulmonary
hypoplasia and visceral herniation. Infants with
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CDH may have difficulty initiating respirations, pres-
ent with gasping respirations, nasal flaring, chest
retractions, or asymmetric chest expansion. The
physical examination reveals a barrel-shaped chest
and a scaphoid abdomen because of loss of the
abdominal contents from the chest.11 On ausculta-
tion, breath sounds are diminished or absent, bowel
sounds may be heard in the chest, and heart sounds
are distant and displaced. When the hernia is on the
left side, the heartbeat will be displaced to the right
because of a shift in the mediastinum.
In the delivery room, infants with CDH should
be immediately intubated.11 Blow-by oxygen
and/or bag-valve-mask ventilation leads to
gastric/abdominal distention with compression of
the lung and therefore should be avoided. Some sur-
geons want the infants intubated even if they have
spontaneous respirations to avoid air in the bowel.
Any delay in obtaining an airway can intensify the
resultant acidosis and hypoxia, which can increase
the risk of pulmonary hypertension.8
Immediate placement of an orogastric tube con-
nected to suction will help prevent bowel distention
and any further lung compression.11 Decompressing
the bowel will provide space in the chest for expan-
sion of the available lung tissue. In a left-sided CDH,
the left hemithorax will be filled with a mass, usually
incorporating air-filled bowel loops, and the tip of
orogastric tube will be seen in the chest. The
abdomen is remarkable devoid of gas patterns
(Figures 3 and 4).
The goal for mechanical ventilation in CDH
infants is to maintain adequate peak end-expiratory
pressures, avoiding high peak inspiratory pressures in
order to minimize lung injury.4,12 Preductal and post-
ductal saturation monitoring are important to demon-
strate pulmonary hypertension and right-to-left shunt-
ing. Preductal oxygen saturation is monitored by
placing the probe on the right hand, and postductal
saturations, with the probe on the left hand or either
of the lower extremities. It may be desirable to keep
the preductal oxygen saturations lower, perhaps as
low as 75% to 90% for at least the first 6 hours of life,
avoiding excessive ventilator pressures.4,7,9 Treatment
should continue with gentle ventilation administer-
ing only enough pressure to maintain preductal par-
tial pressure of oxygen (PaO2) above 60 mm Hg.4,8,12
It is optimal to have arterial line access in order to
properly monitor PaO2.
The basic concept of gentle ventilation is that
overdistention of the lungs will increase pulmonary
hypertension, increase the risk of a pneumothorax,
and result in lung injury due to barotrauma. Many
facilities have protocols for gentle ventilation, with
the goal of reducing barotrauma and volutrauma, or
allowing spontaneous breathing with permissive
hypercapnia and minimal sedation. Barotrauma to
the hypoplastic lungs may be largely responsible for
Advances in Neonatal Care Vol. 8, No. 2
Congenital Diaphragmatic Hernia 111
the instability of the infant.4,12 Most clinicians also
believe that the immaturity of the vascular beds also
plays a major role in instability. Oxygen should only
be weaned after a period of stabilization and very
slowly to prevent pulmonary hypertension and
resultant shunting.
Paralysis and sedation reduce air swallowing and
may enhance compliance and reduce sympathetic
vasoconstriction, potentially leading to lower ventila-
tion settings. However, the loss of the infants sponta-
neous contribution to minute ventilation and
increased third-space edema may negate the benefits
of paralysis.3,4,10,12 Sedation of the infant is vital to pre-
vent swallowing of air and increased risk of pneumoth-
orax, accidental extubation, and other complications.
The major advantage of high-frequency ventila-
tion is improved oxygenation and ventilation
through the use of small tidal volumes. For infants
with severe respiratory failure on maximal conven-
tional mechanical ventilation approaching ECMO
inclusion criteria, the success rate for high-frequency
jet ventilation in avoiding ECMO has been reported
as 33%, and the success rate for high-frequency oscil-
latory ventilation in avoiding ECMO has been
reported as 22%.4(p767) High-frequency oscillatory
ventilation can be used for infants with continued
hypoxia and hypercarbia refractory to conventional
ventilation. Increased use of high-frequency ventila-
tion, along with nitric oxide therapy, has decreased
the need for ECMO in some centers.4,12,13
Pneumothorax is a concern in infants with CDH
and the nurse should be aware of clinical signs such
as increased oxygen requirement, increased work of
breathing, or hypotension. Tension pneumothorax
can present because of rupture of alveoli secondary
to trauma (barotrauma or volutrauma) with pul-
monary hypoplasia.35 Chest tube placement might
be needed if tension pneumothorax presents; how-
ever, some clinicians report improved survival when
chest drainage is not utilized or when chest tube suc-
tion is not utilized to minimize mediastinal shift.3,5,13
Infants with CDH have immature lung develop-
ment and may be surfactant deficient.46 The admin-
istration of surfactant therapy can be used in treat-
ing infants with CDH; however, it is controversial
and did not appear to be beneficial in the treatment
of CDH in some studies.4,5,14,15 Other studies have
shown it to be of some benefit.4 In addition, lung
surfactant maturation can be accelerated with ante-
natal betamethasone treatment.4,16,17 Administration
of surfactant may treat surfactant deficiency,
improving lung compliance and may lower pul-
monary vascular resistance and improve pulmonary
blood flow.4,9,15
Successful treatment of persistent pulmonary
hypertension of the newborn has been accom-
plished using inhaled nitric oxide. Some investiga-
tions have trialed this therapy in infants with
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112 Hartnett
FIGURE 4.
Left Congenital Diaphragmatic Hernia. Photo cour-
tesy of Dr Gerardo A. Cabrera-Meza.
persistent pulmonary hypertension, complicating
the course of CDH.4,14 In a study that viewed lamb
models of CDH, there was good response to nitric
oxide but only after the animals had received sur-
factant treatment and it is not clear whether this is
true for the human infant.14
It is important to get an echocardiogram and a
cranial ultrasound of all infants with CDH. A cranial
ultrasound is useful to examine for intracranial hem-
orrhage or bleeding and is usually required before
starting ECMO. An echocardiogram identifies the
presence of associated cardiac anomalies and estab-
lishes the presence and severity of pulmonary
hypertension and shunting. The presence of severe
cardiac anomalies may influence how aggressive
subsequent treatment should be, as the survival rate
of neonates with CDH with major cardiac anom-
alies is guarded.
Abnormal cardiac function is often a problem in
patients with CDH. The heart is malpositioned in the
chest, making echocardiographic assessment diffi-
cult. A decrease in the size of the left side of the heart
may cause decreased ventricular function and perfu-
sion issues. Inotropics, such as dopamine and dobut-
amine, maintain arterial mean blood pressures, min-
imizing the right-to-left shunting. Use of afterload
reducers, such as milrinone may be considered when
there is evidence of ventricular dysfunction.4
To treat infants with severe respiratory failure, the
use of ECMO has been utilized with success.4,6,9,13
ECMO allows for exchange of oxygen and carbon
dioxide, and avoids additional lung trauma due to
positive-pressure ventilation.4,8,13 Several single insti-
tution series have reported an improved survival
rate with the use of ECMO in infants with CDH.13
However, the results of ECMO are heavily depend-
ent on selection criteria, which may vary by institu-
tion. Initially, attempts were made to identify those
infants with greater than 80% risk of death, offering
ECMO only to this group. However, there are no
absolute predictors of lethal pulmonary hypoplasia
in CDH; therefore, it was not possible to determine
which infants would otherwise not survive.4,9,13 The
aim of ECMO is to make the patient survive long
enough for the reactive component of pulmonary
hypertension to resolve, which may take 2 to 3
weeks. However, death becomes inevitable if there
is severe pulmonary hypoplasia with fixed pul-
monary hypertension.4,10 Despite the lack of conclu-
sive evidence that ECMO improves survival, it
remains a significant treatment option for the infant
with CDH.4,5
Selection criteria for ECMO consists of an inabil-
ity to maintain preductal oxygen saturations greater
than 75% to 85% or postductal PaO2 greater than
30 mm Hg, peak inspiratory pressures greater than
30 cm H2O or mean airway pressure greater than
15 cm H2O, hypotension that is resistant to fluid
and/or inotropic support, and inadequate oxygen
delivery with persistent metabolic acidosis. The oxy-
gen index ratio is also used in the criteria for place-
ment on ECMO. However, some clinicians might
decide to place infant with CDH on ECMO regard-
less of the oxygen index ratio. An exclusion criterion
for ECMO varies between institutions, most exclude
infants with lethal chromosomal abnormalities or
severe intracranial hemorrhage.35
Caregivers should provide meticulous attention to
detail for supportive medical care including continu-
ous monitoring of oxygenation, blood pressure, and
perfusion. Providing care using a minimal stimula-
tion approach, reducing handling and invasive pro-
cedures such as suctioning, is often best. The infant
should have an umbilical artery catheter placed for
frequent monitoring of blood gases and blood pres-
sure, and, if possible, an umbilical vein catheter for
administration of fluids and medications.
It is important to maintain reference range glu-
cose and ionized calcium concentrations.
Stabilization also includes maintaining an adequate
hematocrit and may require transfusing with packed
red blood cells to optimize the oxygen-carrying
capacity. Restriction of intravenous fluids is neces-
sary, as pulmonary edema can contribute to deterio-
ration.4 Initial management includes nothing by
mouth status.
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SURGICAL MANAGEMENT
The management of infants with CDH has changed
over the years, from an extreme surgical emergency
to an extended preoperative stabilization, followed
by delayed surgical repair. Surgical correction is
done by reduction of intrathoracic intestine and clo-
sure of the diaphragmatic defect.
Emergency surgery was the standard approach to
CDH during the 1980s because reduction of the her-
nia would lead to improvement in the respiratory sta-
tus by allowing the lung to re-expand. With the dis-
covery that the lungs are hypoplastic, not atelectatic,
and that abnormal arteriolar muscularization with
resulting pulmonary hypertension were important in
the pathophysiology of CDH, delayed surgical repair
was introduced.4,8,1822 Currently, most infants with
CDH are stabilized before surgical intervention.
Although associated anomalies may contribute to
mortality, it is mainly due to hypoxia secondary to
pulmonary hypoplasia. Emergency repair, however,
does not correct the preexisting pulmonary hypopla-
sia, but may on the contrary worsen the respiratory
status postoperatively. Third-space fluid losses, pul-
monary edema, and pulmonary hypertension com-
plicate the postoperative course. Some investigators
have proposed extended preoperative medical stabi-
lization, followed by delayed repair.1921 The aim of
the extended period of preoperative stabilization is to
decrease the pulmonary vascular resistance, improve
and stabilize the patient in terms of adequate ventila-
tion (improving oxygenation, eliminating hypercar-
bia and acidosis), and improve cardiovascular stabil-
ity. Some suggest that the survival rate would not be
worse by postponing surgery.19,20 The results of such
an approach showed that, 66.7% operated on early
died, while only 18.2% of those operated on after a
period of stabilization died.22 Another study meas-
ured 46% survived with early surgery and 57%
survived with delay of surgery.21 CDH is one of the
most challenging and complex pediatric abnormali-
ties to manage, both medically and surgically. The
care of these infants has seen significant evolution,
from previous aggressive ventilation and emergent
operation to current permissive hypercapnea, physi-
ologic stabilization, and elective surgical repair, all in
less than 2 decades.
Prenatal intervention to correct the pulmonary
hypoplasia in utero is also an option. Animal models
have demonstrated the feasibility of surgical repair,
and more recently, tracheal occlusion.4,23,24 Fetal tra-
cheal occlusion is an alternative strategy to promote
fetal lung growth by preventing normal egress of lung
fluid, which in turn leads to increased levels of lung-
tissue stretch. Early experience with tracheal occlu-
sion appears to be promising, although the optimal
timing of the procedure and the characteristics of the
resulting lung are still under intensive experimental
Advances in Neonatal Care Vol. 8, No. 2
Congenital Diaphragmatic Hernia 113
research.23,24 A study on rabbit fetuses was done to
evaluate the effect of surgically induced diaphrag-
matic hernia on lung growth and maturation, before
embarking on further studies on the effect of tracheal
occlusion on pulmonary hypoplasia. The results
showed that in rabbit fetuses, a surgical CDH on Day
23 of gestation reproduces most features of the
human CDH-associated pulmonary hypoplasia,
including delayed maturation.23
In 2003, a randomized trial of fetal endoscopic
tracheal occlusion for severe fetal CDH was con-
ducted.25 Occlusion of the fetal trachea to stimulate
fetal lung growth occurred in a variety of animal
models. Seventy-three percent in the tracheal
occlusion group and 77% in the group that received
standard care survived to 90 days of age.25 Even
though no significant difference in survival was
noted, the procedure is certainly open to further
improvements. Severity of CDH plays a great role
in the mortality and morbidity; however, the study
was not able to differentiate that tracheal occlusion
improved survival or morbidity in this particular
study.24
In infants who have a temporary occlusion with a
tracheal plug, the ex utero intrapartum treatment10
procedure has been developed to allow for unplug-
ging of the trachea at birth. The goal of the proce-
dure is to use the placenta for support until an airway
can be placed in the neonate after birth.10 The ex
utero intrapartum treatment procedure requires a
multidisciplinary team consisting of surgeons, obste-
tricians, neonatologists, specialized anesthesiolo-
gists, nurses, respiratory therapists, and ECMO tech-
nicians. The infants head is delivered and then
monitoring is begun through uterine opening, once
assessed and intubated, a decision is made whether
to complete the delivery. This may also allow for
immediate initiation of ECMO if the condition of the
infant does not improve with establishement of an
airway.10,25 The future of fetal surgery is yet to be
determined; its success will depend on accurate
identification of the fetus that has a poor prognosis
and the demonstration of an increased survival with
in utero surgery over conventional postnatal therapy
for this subgroup of fetuses.
POSTOPERATIVE CARE OF THE INFANT
After correction of the hernia, most infants remain in
the intensive care unit as their lungs continually try to
improve. Careful attention to pain control and seda-
tion is vital. A chest tube may be present for drainage
of fluid. This must be maintained with appropriate
water seal drainage, and suction is not usually used.4,26
Suction can adversely shift the mediastinum and cre-
ate difficulties with cardiac output or contribute to
development of a pneumothorax.4,26 Chest tube
drainage should be monitored for volume and color.
AC080205_107-115.qxd 3/24/08 5:13 PM Page 114
114 Hartnett
Careful attention to ventilation is essential.
Hypoxemia and respiratory acidosis is to be avoided.
Infants with a repaired CDH continue to have issues
with pulmonary hypertension and may require
inhaled nitric oxide and inotropic blood pressure
support.
Infants may require multiple fluid boluses in order
to cope with third-spacing of fluid and decrease in
intravascular volume. Careful attention to intake and
output is important. Supportive care, such as ther-
moregulation, maintenance of a normal glucose
level, and monitoring of electrolytes and calcium lev-
els, is essential.
Recurrent diaphragmatic hernia can occur requir-
ing a patch repair and ECMO support. Reherniation
can occur and is increased with the use of synthetic
patch repairs and ranges from five to eighty per-
cent.10(p10) Timing varies and common symptoms
involve the respiratory system, include coughing and
wheezing, or feeding difficulties. The site of reoccur-
rence with a patch is typically medial. The risk of
infection with patches is an issue that would prompt
removal of the patch and diaphragmatic reconstruc-
tion. The need for patch repair has been associated
with chest wall deformities.
All patients who have CDH repair will have a
malrotation of the small intestine. A small number
will have obstruction of the small bowel due to
midgut volvulus or adhesions,4,9,26 requiring addi-
tional surgery. This can be a life-threatening compli-
cation if unrecognized. Gastrointestinal reflux and
foregut dysmotility are prominent chronic abnor-
malities in infants with CDH. There are several fac-
tors that can contribute to the development of reflux,
including disturbance of normal esophageal and gas-
troesophageal junction because of mediastinal shift
and compression, shortened intraabdominal esoph-
agus, deformation of the diaphragmatic ligaments
during closure, pressure changes related to
esophageal dysfunction, and gastroesophageal
reflux. Use of contrast studies may be needed to
determine the extent of reflux. Some infants will
require a Nissen fundoplication and gastrostomy
tube placement before discharge.26
OUTCOMES
Overall, reported survival varies among institu-
tions. Survival rates can range from 40% to 80%,
depending on the size of the defect and the avail-
ability of resources, including ECMO.4,9,13,27
Significant long-term morbidity, including chronic
lung disease, growth failure, gastroesophageal
reflux, and neurodevelopmental delay, may occur
in survivors.3,7,27,28 Lungs grow rapidly during the
first year of life, minimizing the effect of the initial
pulmonary hypoplasia. Infants may require oxygen
at discharge. Other infants have complications
associated with chronic bronchitis, chronic aspira-
tion pneumonitis, and the development of bron-
chopulmonary dysplasia.5
Failure to thrive is a major concern for the infants
with CDH and despite the frequent use of nasogastric
and gastrostomy tube feeds, a high proportion
remain below the fifth percentile for weight.4,26 Poor
growth can be from gastroesophageal reflux rather
than chronic lung disease, and some infants may
have severe oral aversion.
Neurodevelopmental disabilities and abnormali-
ties include intraventricular hemorrhage, infarction,
and periventricular leukomalacia. Neurological
deficits and developmental delay tend to resolve
with time and with resolution of other organ system
deficits. The incidence of neurological disabilities is
dependent, in part, on whether the infant was man-
aged with or without ECMO. ECMO also affects
the rate of hearing loss among infants with
CDH.4,8,25,28
DISCHARGE HOME
CDH is a very serious disease process and the fami-
lies of these infants need to be involved in the plan
of care with the healthcare team from the beginning
of diagnosis and continued throughout treatment.
Many facilities have chosen Web sites that they can
direct families to visit, giving them current medical
literature. The distribution of visual aids to parents
helps clinicians describe the findings in their infant
and then the parents can refer back to the diagrams
at various times during their infants course. The
nurse at the bedside should also be familiar with the
diagram and be able to help answer questions that
the parents might have. The families should be
included in decisions about both short- and long-
term care.
One approach is to have parents present during
healthcare rounds that occur every day on their infant.
It is important to give these families all of the treatment
options as well as the expected outcomes for each
approach. Parents need clinicians to give them all the
data and options available, so that they can make
informed decisions for the care of their infant.28
CDH survivors have a number of significant med-
ical issues after hospital discharge and the families
require extensive education and support. Many fam-
ilies report significant financial and emotional strain
that is long-standing following discharge.28 Some
facilities offer extensive training to families, such as
feeding tube classes, dietician classes on how to
properly prepare the formula that their infant needs,
and occupational and physical therapy.
Developmental and child intervention clinics are
available after discharge.
Hospice care may be considered for those infants
who have significant CDH that do not respond to
www.advancesinneonatalcare.org
AC080205_107-115.qxd 3/24/08 5:13 PM Page 115
treatment, or are accompanied by other anomalies.
In particular, those defects that occur in conjunction
with a trisomy 13 or 18 are candidates for hospice
care. Most infants with a CDH will not live for a long
period of time without treatment.
CONCLUSIONS
Infants with CDH have a poor prognosis for survival
from the beginning of their lives. In the most severe
cases, the migration of many of the vital organs into
the thoracic cavity is a dire sign due to the primary
pulmonary hypoplasia, preventing the infant from
breathing adequately on his or her own.
Despite several decades of investigation and a vast
array of new therapeutic approaches, the optimal
therapeutic strategy for the infant who has CDH
remains undetermined. Ongoing data collection and
the development of multicenter clinical trials should
clarify which therapies are most likely to be of bene-
fit. There continues to be an evidence of mortality and
morbidity among infants with CDH. This evidence
should prompt research and new strategies for treat-
ment and therapeutic management. Ongoing
research is important and is a means to improve the
care that healthcare providers are giving to infants
with CDH.
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