Download Congenital diaphragmatic hernia: Early detection is imperative to

Congenital diaphragmatic hernia: Early detection is imperative to improve
outcome. Case report and literature review.
A. Elfituri, A. Vanderby, R. Stamatis, A. Arafa
Department of Obstetrics and Gynaecology, Epsom and St Helier Hospital NHS Trust, Epsom General Hospital, KT18 7EG
Introduction:
Congenital diaphragmatic hernia (CDH) is the protrusion of some of the abdominal or retroperitoneal structures through a
defect in the diaphragm into the chest cavity. Typically this occurs at about 10–12 weeks gestation.
Commonest type is the posterolateral or Bochdalek hernia, other types include Morgagni’s hernia, diaphragm eventeration
and central tendon defects of the diaphragm. Infants who are born with diaphragmatic hernia experience respiratory failure
due to pulmonary hypoplasia. In babies who survive early neonatal period, there may be feeding difficulties, chronic
respiratory disease, pneumonia, and intestinal obstruction. This entity is noted to be associated with other genetic
anomalies like Di George syndrome, Chromosome 15, 18, 13, and 21 anomalities, Fryns syndrome, Pallister- Killian
syndrome. Associated anomalies include Neural Tube Defects (28%), Cardiovascular anomalies (9-27%), malrotation
(20%), omphalocele and genitaitourinary anomalies (15%). Ultrasonologically it is diagnosed when there is solid/ multicystic
complex chest mass, mediastinal shift, foetal stomach at the level of heart, decreased AC ratio, herniated viscera into the
chest shifting mediastinal structures. (1)
CDH occurs in approximately 4 in every 10,000 births. Males are more commonly affected than females with a ratio of 3:2.
(2) Many cases of CDH are diagnosed on the 20-week Foetal Anomaly ultrasound scan. Some may be diagnosed during a
third trimester ultrasound or occasionally as early as the dating scan. However, undiagnosed cases still occur and present
at birth. The detection rate is 60% based on NHS Foetal Anomaly Screening Programme. Survival for babies born with
CDH is approximately 50%, depending on the severity of the CDH and associated abnormalities. Unfortunately, morbidity
and mortality remain high despite advances in neonatal intensive care with an overall 1 year survival estimated at 42%.
Discussion:
In our case the baby’s CDH went undetected and subsequent emergency post-natal surgery was
required. Prenatal detection is possible but can be missed, sensitivity increases if the patient exhibits
other anomalies and advancing gestation with a mean age of diagnosis at 24 weeks. (3) Antenatal
ultrasound can identify >70% of cases. (4) Severity of the hernia is also directly proportional to
mortality. (17) Once the diagnosis has been confirmed then management is based on the severity of
the hernia. Larger herniation and right-sided defects are associated with greater lung hypoplasia and
increased risk of death. Diaphragmatic defects cannot be reliably measured prenatally, however liver
herniation and foetal lung volume measurements have become reliable predictors of survival. The
degree of liver herniation has been indicated in retrospective studies as a significant predictor of
prognosis. (1,5) For babies born with a known CDH there is significant debate about delivery time and
mode, the use of extracorporeal membrane oxygenation (ECMO) and post-surgical treatment. (6)
In cases with mild to moderate CDH detected prenatally, the current treatment is similar to what our
patient received, aggressive respiratory support including mechanical ventilation, medical stabilization
and surgical closure of the defect. The CDH Study Group found that specialized centres that
commonly treat the condition have survival rates nearing 90%. (7) Patch repairs use synthetic patches
(Gore-tex®, Marlex® or Permacol®) for larger defects and standard non-absorbable sutures for a
smaller herniation. (8) Post-operatively our patient also exhibited persistent pulmonary hypertension,
which is one of the most common and serious post-surgical complications. However like the majority of
properly managed CDH patients he has recovered and is expected to have a normalization of
pulmonary pressures. (1,9,10,)
For isolated severe CDH detected in utero, interventional therapy is only available at a few centres
worldwide. There has been important work done with prenatal detection and treatment with Foetal
Endoluminal Tracheal Occlusion (FETO), a technique that attempts to decrease lung hypoplasia
caused by CDH. A tiny balloon is passed percutaneously into the foetal trachea and inflated. This
obstructs the outflow of lung fluid and creates an environment where they can better develop. (1, Fig.
A+B) The Eurofetus group report in 24 poor prognosis foetuses showed increased survival to
discharge rates at 50%. (11) And the FETO Consortium looked at 210 cases managed by FETO
versus expectant management and saw an increase in survival from 24% to 49% with intervention.
They concluded that despite a high incidence of PPROM that intervention with FETO did increase
survival in patients with poor prognosis (12) Another study showed that FETO resulted in significant
improvement in lung size and pulmonary vascularity when compared to neonates who were
expectantly managed. (13) However some articles cite that all randomized trials comparing prenatal
intervention to standard intervention show no benefit in less severe cases. (14)
Case:
In this review we describe a case report where a congenital diaphragmatic hernia was undetected, neither in the anomaly
scan nor in two consecutive ultrasound scans, in a baby that was born by an elective caesarean section. The defect was
diagnosed postnatally with the newborn acquiring severe breathing difficulties, necessitating admission to the neonatal
ward and later transfer to a tertiary centre for further management.
The mother is a 38 year old lady G5P1 with four miscarriages ending before the first trimester. Her past medical history is
significant for obesity, depression, hip dysplasia and lumbar disc degeneration. During her prenatal care she was found to
have anti-nuclear antibody and natural killer cell activity treated with aspirin, folic acid, and vitamin D. A twelve-week
ultrasound performed at St. Helier reports a normal abdomen, heart, skull/brain with a very low adjusted trisomy risk. The
twenty-three week anomaly scan showed foetal growth within normal limits in all categories and demonstrated a healthy
foetal heart. Both sonographers noted that exam was difficult due to the patient’s body habitus (BMI 33.33). All three of
the patient’s ultrasounds were performed by sonographers. The remainder of the pregnancy was uneventful except for an
episode of bleeding per vagina at 38 weeks that resolved spontaneously. She was scheduled for a caesarean section due
to back problems.
A baby boy was born via an elective Caesarean Section at 39+1 weeks at St. Helier’s Hospital. When spinal anaesthesia
was initiated the foetal heart rate dropped to 65bpm and the decision was made to expedite the delivery. At the time of
birth the baby exhibited signs of poor respiratory effort and required resuscitation involving inflation breaths followed by
ventilation breaths. The patient was started on 50% Oxygen via CPAP and transferred to the Neonatal Unit 26 minutes
after birth. On examination by the paediatric registrar the baby was tachypnoeic at 80 breaths per minute but
demonstrated good air entry bilaterally. The chest X-ray showed a left-sided congenital diaphragmatic hernia and the
patient was subsequently intubated for ventilation for transfer to St. George’s Hospital and surgical management. A leftsided diaphragmatic hernia patch repair was successfully performed without complication 3 days later. The baby’s
thirteen-day stay was complicated with respiratory distress syndrome, suspected sepsis and persistent pulmonary
hypertension. Despite his dramatic beginning the baby is currently healthy and without breathing problems and is being
followed by the respiratory team.
Figure A.
Figure B.
Conclusion
The Early antenatal detection is very important, as it is the key to help in the obstetric management as well
as newborn care. Antenatal diagnosis allows prenatal management (open correction of the hernia in the
past and presently reversible fetoscopic tracheal obstruction) that may be indicated in cases with severe
lung hypoplasia and grim prognosis. (17) Treatment after birth may require all the refinements of critical
care including extracorporeal membrane oxygenation prior to surgical correction. This also allows time for
in utero transfer to more specialised units where immediate intensive care for the newborn can be offered.
It is therefore critical that intensive training be offered to all sonographers and training doctors, in order to
maximise the detection rates of congenital diaphragmatic hernia and provide patients with the best care
possible.
It is also crucial to have a comprehensive evaluation, including imaging and (high-resolution) genetic
studies, should be carried out. The primary purpose of this evaluation is to rule out associated anomalies
and to assess the severity of pulmonary hypoplasia in order to offer parents an individualized prognosis.
The latter can be done on the basis of the dimensions of the lung, its vascularization and liver position.
Further multidisciplinary consultation should address the neonatal issues as well as later morbidities. Based
on this complete evaluation and after extensive counselling, patients should make an in-formed choice out
of the available management options which also include foetal therapy for more severe cases in a number
of centres spread over the world.
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Patient X-ray: Arrow indicating bowel in thorax