Dr Varsha Atul Shah

Senior
Consultant
Dept of Neonatal
and Devt
Medicine, SGH
Visiting Consultant
Summary of
presentation
 Overview
- Background
- Path physiology
- Epidemiology
- Mortality and Morbidity
Clinical Presentation
 Differential diagnosis
 Investigations

 Treatment: Medical and surgical

Overvie
w
 appeared in the medical literature since its first
description in the early 18th century
 In1946, Gross reported the first successful repair of a
neonatal diaphragmatic hernia
 In the 1960s, Areechon and Reid observed that the
high mortality rate of CDH was related to the degree
of pulmonary hypoplasia at birth
Incidenc
e1 in 2000-3000 live births

 Accounts for 8% of all major congenital anomalies

 The risk of recurrence of isolated (ie, nonsyndromic)
in future siblings is approximately 2%
Familial is rare (< 2% of all cases)
 Both autosomal recessive and autosomal dominant
patterns of inheritance is reported
Genetic anomalies-
Associated with genetic anomalies:
Syndrome
 Smith-Lemli-Opitz syndrome

DiGeorge syndrome
 Chromosome 15,18,13 and 21 anomalies
Fryns syndrome
Pallister-Killian syndrome
Pathophysiology and
cause
 Cause is unknown

 Failureof normal closure of the pleuroperitoneal

canal in the developing embryo
 Abdominal contents herniate and compress the
ipsilateral developing lung, causing pulmonary
hypoplasia and hypertension
Path physiology of
CDH
Is associated with variable degree of pulmonary hypoplasia
due to decrease in cross-sectional area of the pulmonary
vasculatureand alterations of the surfactant system
 The lungs have a small alveolar capillary membrane for gas
exchange, which may be further decreased by surfactant
dysfunction
 There is increased muscularization of the intraacinar
pulmonary arteries
 Invery severe cases, left ventricular hypoplasia is
observed.
Pulmonary capillary blood flow is decreased because of
the small cross-sectional area of the pulmonary vascular bed,
and flow may be further decreased by abnormal pulmonary
vasoconstriction.
Types of congenital diaphragmatic
hernia

Bochdalek hernia: Poster lateral

(occurring at approximately 6 weeks' gestation)

Morgagni hernia: Anteriomedial

 The hiatus hernia

Left sided of CDH
 Theleft-sided Bochdalek hernia occurs in
approximately 85% of cases

Allow herniation of both the small and large bowel

and intra-abdominal solid organs (stomach, liver)
into the thoracic cavity
Right sided
CDH
 Occurs in (13% of cases)

 Only the liver and a portion of the large bowel tend

to herniate
Bilateral hernias are uncommon and are usually
fatal.
Mortality/Morbidity
 Mortality has traditionally been difficult to determine
 Thisis partially because of the "hidden
mortality" for this condition who die in utero or
shortly after birth, prior to transfer to a surgical
site
A population-based study from Western Australia
indicated that only 61% of infants with
congenital diaphragmatic hernia are live born
 Nearly33% of pregnancies that involved a fetus
were electively terminated
Se
xIt occurs equally in both sexes
Age
 It is usually a disorder of the new-born period
10% of patients may present after the new-
born period and even during adulthood
 Outcome in patients with late presentation of
congenital diaphragmatic hernia is extremely
good, with low or no mortality
Clinical
Presentation
History
Is diagnosed based on prenatal ultrasonography
findings in approximately one half of affected infants
May have a prenatal history of polyhydramnios
 Themost commonly present with respiratory distress
and cyanosis in the first minutes or hours of life
 The respiratory distress can be severe and may be
associated with circulatory insufficiency, requiring
aggressive resuscitative measures.
Antenatal
Diagnosis:
59% antenatal detection with average age 24.2 weeks

 Polyhydramnios

 Intrathoracic stomach or liver

 Lung-to-head ratio and lung/transverse thorax ratio.
Usually at prenatal ultrasound (15 weeks).
 Recently fetal MRI and fetal echocardiography,
helpful to determine degree of pulmonary
hypoplasia. (MRI lung volumetry, left ventricular
Clinical
Presentation
History
 Respiratory distress
 Tachypnea

Cyanosis in the first minutes or hours of life

 The respiratory distress can be severe and may be
associated with circulatory insufficiency, requiring
aggressive resuscitative measures.
Three general
presentations
Severe respiratory distress at the time of
birth. ( Severe hypoplasia)
 Respiratory
deterioration hours after delivery
(honeymoon period). Benefit from correction
of hypoxemia and pulmonary hypertension.
 Feeding difficulties, chronic respiratory disease,
pneumonia, intestinal obstruction 24h after birth. (10-
20% of patients).Best prognosis
Physical
Scaphoid abdomen, barrel-shaped chest, and signs of
Examination
respiratory distress (retractions, cyanosis, grunting respirations)

 In left-sided posterolateral hernia, auscultation of the lungs reveals

poor air entry on the left, peristalsis heard in chest, with a shift
of cardiac sounds over the right chest

 In patients with severe defects, signs of pneumothorax (poor air

entry, poor perfusion) may also be found

 Associated anomalies occur in a relatively high percentage of infants

 Dysmorphisms such as craniofacial, extremity abnormalities, or

spinal dysraphism may suggest syndromic congenital diaphragmatic
hernia
Differential
Diagnoses
 Cystic Adenomatoid Malformation
 Bronchopulmonary sequestration
 Bronchogenic cyst
 Bronchial atresia
 Enteric cyst
 Teratoma

 Disorders of the Thoracic Cavity and Pleura

Imagining study-Chest X-
ray
Placement of an orogastric tube prior to the study
helps decompress the stomach and helps determine
whether the tube is positioned above or below the
diaphragm
Typical findings in a left-sided posterolateral congenital
diaphragmatic hernia include
- Air-filled or fluid-filled loops of the bowel in the left
hemithorax
- Shift of the cardiac silhouette to the right
- Look for evidence of pneumothorax
Chest X-
Ray
Imagining study-2D
Echography
2DE: To exclude Cardiac anomalies (25%) and degree of
PPHN
Assessing myocardial function and determining
whether the left ventricular mass is
significantly decreased
 Renal USG: Genitourinary anomalies occur in 6-
8% of infants
Cranial USG for CNS anomalies
Investigations-Lab
studies
ABG (pre-right radial and post ductal-left radial or
posterior tibial artery) measurements to assess for pH,
PaCO2, and PaO2
 Note the sampling site because persistent pulmonary
hypertension of the newborn (PPHN) with right-to-
left ductal shunting often complicates CDH
 The PaO2 is often higher from a preductal (right-
hand) sampling site
 Serum lactate may be helpful in assessing for
circulatory insufficiency or severe
Medical Care in the delivery
room:
( if the infant is known or suspected to have congenital
diaphragmatic hernia)
 Immediately place a vented orogastric tube and
connect it to continuous suction to prevent
bowel distension and further lung compression
Avoid mask ventilation and immediately intubate the
trachea
Avoid high peak inspiratory pressures and be alert to
the possibility of early pneumothorax if the infant
does not stabilize
Investigation
sSerum electrolytes, ionized calcium, and glucose
initially and frequently
 Maintaining glucose levels in the reference range and
maintaining calcium homeostasis are particularly
important
Pre and Post Pulse
Oxymetry
 Continuous pulse oximetry is valuable in the
diagnosis and management of PPHN
 Place oximeter probes at preductal (right-hand) and
postductal (either foot) sites to assess for a right-
to- left shunt at the ductus arteriosus level
Procedure
sUAC
 insertion: For frequent ABG monitoring and BP
monitoring
UVC insertion for infusion of inotropes, Calcium and for
venous access
 Venoarterial or venovenous ECMO support is an
adaptation of cardiopulmonary bypass and involves
a surgical team
NICU admission/Critically
care
Minimal Handling/stimulation, and gentle suctioning
 Maintain temperature
 Continuous monitoring of oxygenation, transcutaneous
PaO2, PaCO2, blood pressure, and perfusion
 Maintain glucose (reflo regime) and ionized calcium
Inotropes for
BP
 Use volume expansion and inotropic support with
dopamine, dobutamine, or milrinone , 2-20 mcg/kg/min
 Dobutamine and milrinone may be particularly helpful if
myocardial dysfunction is present
 Epinephrine infusions may be necessary in severe cases;
low-dose epinephrine (< 0.2 mcg/kg/min) may help to
promote pulmonary blood flow and improve cardiac
output
Maintain
PaO2/PaCO2
 PaO2 concentrations greater than 50 mm Hg

 Permissive mild hypercarbia is allowed

 Maintain PH, avoid acidosis
 Inhaled INO ( Nitric Oxide) as indicated
 Magnesium sulphate loading and infusion if no INO
available
ECMO if available
 Sedation is an important adjunctive therapy, but the
Sedatio
nFentanyl 1 mcg/kg/hour or Morphine infusion
Paralysiswith Pancuronium, Vancuronium
(Controversial)
Surgical Care-
Antenatal
Open fetal surgery: remove the compression of the
abdominal viscera. High risk for fetus and the
mother. No survival advantage. (Harrison et al, J
Ped Surg, 1997)
Fetaltracheal occlusion: stimulation of lung
growth
with accumulation of fluid. Result in larger but
persistent abnormal lung.
 Steroids therapy weekly to improve lung function is
controversial (risk of brain and body development
Surgical Care-Time of
surgery
 Circulatory stability, respiratory mechanics, and gas
exchange deteriorate after surgical repair
 The ideal time to repair a congenital diaphragmatic
hernia is unknown
Some suggest that repair 24 hours after
stabilization is ideal, but delays of up to 7-10 days
are typically well tolerated, and many surgeons now
adopt this approach
Some surgeons prefer to operate on these neonates
when normal pulmonary artery pressure is
maintained for at least 24-48 hours based on
Approaches for surgical
repair
Abdominal subcostal
 Thoracotomy

 Laparoscopic vs Thoracoscopic
 MIS (Minimal Invasive surgery) ideal for Morgagni hernias but can be
challenging because the peumoperitoneum widens the defect.
 Laparoscopy for Bochdalek’s has a high failure rate and is associated
with ↑pCO2 and acidemia
 Contraindicated if very high pCO2.
 Thoracoscopy is better approach for Bochdalek hernias with recurrence
of 14%. Open approach 3-22%.

Small defect can be repaired primarily

Surgery
Before Surgery After Surgery
Follow up
care
GERD

 Growth Failure (FTT)

 Foregut dysmotility
 Chronic lung disease
Scoliosis

 Pectus excavatum
 Neurodevelopmental delay, Cognitive skills, LD,
seizures,
Further Inpatient Care-Respiratory
care
Severely affected infants have chronic lung disease

May require prolonged therapy with supplemental

oxygen and diuretics, an approach similar to that for
bronchopulmonary dysplasia
 The use of steroids, particularly high doses for
prolonged periods, is controversial and may
hinder appropriate lung and brain development
Late pulmonary hypertension has been
successfully treated with low-dose inhaled nitric oxide
Neurologic
evaluation
 Neurologist or developmental pediatrician perform
an examination that includes an evaluation for
CNS injury using head CT scanning or MRI
 The incidence of hearing loss appears to be
particularly high in patients with congenital
diaphragmatic hernia (approximately 40% of
infants)
An automated hearing test should be performed prior
to discharge
Gastroesophageal
(GERD)
reflux
GERD is very high in patients who survive congenital
diaphragmatic hernia, and studies document an
incidence of 45-85%.

Severe reflux may result in chronic aspiration and is,

therefore, aggressively treated

 Althoughmost infants can be medically treated with

H2-blockers or proton pump inhibitors in combination
with a motility agent such as Domperidone, surgical
Further Outpatient Care- Failure To
Thrive (FTT)
 Possible causes include increased caloric
requirements due to chronic lung disease, oral
aversion after prolonged intubation, poor oral feeding
due to neurologic delays, and gastroesophageal
reflux.
 More than 50% of patients are below the 25th
percentile for height and weight during the first year
of life
 In one study, one third of infants required
gastrostomy tube placement to improve caloric intake
Developmental
Assessment
Because of the risk for CNS insult and sensorineural
hearing loss, infants should be closely monitored for
the first 3 years of life, preferably in a specialty follow-
up clinic
 These risks are particularly high in infants who are
discharged home on supplemental oxygen
Reassess hearing at age 6 months (and later if
indicated) because late sensorineural hearing loss
occurs in approximately 40% of patients
School age
Even if a child has no major neurodevelopmental
delays, he or she should be evaluated prior to entering
school to determine if any subtle deficits may
predispose the child to learning disabilities.
Nursing related
pointers
 Delivery room-Do not bag and Mask, early intubation
 Insert nasogastric tube to decompress stomach and
gut
SatO2 monitor on right palm and left palm(pre and
post)
 Thermoregulation maintain temp 36.7-37.3°C by
control of ambient and/or skin temperature
 Minimal stimulation/Handling, XR,suction and
noise
Nursing related
pointers
HFOV, ETT position, mechanical ventilation charting, prevent
nosocomial pneumonia and infection control
 Educate use and connection for INO NOXBOX
 Avoid hypoxia, hypercarbia, acidosis
 Sedation, pain management
 Inline suctioning, Chest PT
 Developmental care- avoid noise, bright light etc
 Feeding, Expressing breast milk, Weight chart, wound care
 Positioning and posture:
- Supportive positioning (Position infant with affected side down
to aid ventilation of the “good” lung)
- Also position infant in a nesting position to decrease agitation
 Parent Education and support
Parent
education
 Parents receiving the diagnosis of Congenital
Diaphragmatic Hernia initially experience emotional
distress, which has been shown to impair optimum
learning
 Studiesof prospective parents of an infant with a fetal
anomaly revealed their inability to assimilate all the
information given to them in one session
 Parents have indicated that both visual and auditory
learning is important and have suggested that written
material and drawings would be useful in helping
Parent
education
 Description of Congenital Diaphragmatic Hernia

 Explanation of what to expect in the delivery room

 Tour of neonatal unit
 Explanation of what to expect upon admission to
NICU and first day of life including intubation,
ventilation, antibiotics, umbilical venous/arterial
lines, IV therapy, gastric decompression and cardiac
monitoring.
 Education upon admission to NICU:
 Parent
Education
Pre-Op: Update parents to plans for surgery and what
to expect post-operatively
Post-operative Education:
Update parents about infant’s status post-
operatively and review any new equipment,
medication, or therapies that have been added to
infant’s care.
Discharge Education:
General Infant Care
Car seat Safety
Care for the infant
Conclusio
CDH is a congenital anomaly with a high mortality
nUsually associated with pulmonary hypoplasia and hypertension

 Surgical repair is only treatment
 Delayed surgery until the patient is stable is associated with better
outcomes
 Congenital cardiac and renal diseases, hypoxemia and hypercapnia
increases mortality
 HFOV, ECMO, iNO has improved the survival of CDH
 Permissive hypercapnia with acceptable pO2 has shown to improve
survival
 Long term follow up is necessary to detect complications
 Tracheal occlusion in utero, keeps lung expanded but is a abnormal
lung
 Primary repair if small defect, patch if large defect, to prevent
tension