Author Information
Yashwant
S. Kulkarni*, Aniket S. Kakade*, A. Maalavika**
(*
Associate Professor, ** Chief Resident. Department of Obstetrics &
Gynecology, Bharati Vidyapeeth University Medical College, Bharati Hospital &
Research center, Pune,India.)
Abstract
Congenital
diaphragmatic hernia (CDH) is the result of a simple anatomic defect that leads
to a complex pathophysiology with lasting implications. Management requires
multidisciplinary approach between obstetrician, neonatologists and pediatric
surgeons. In spited of advances in medical sciences the outcome infant with CDH
is dismal. We present a case of CDH diagnosed late in pregnancy with fatal
outcome within one hour of life.
Introduction
Management
of congenital diaphragmatic hernia remains perplexing. In spite of advances in
technological and therapeutic strategies the condition continues to carry
considerable mortality risk. CDH is estimated to occur in 1 of every 3,000 live
births.[1, 2] We present a case of CDH diagnosed late in pregnancy
without any predisposing high risk factors. The baby expired within one hour
after birth and was found to be having associated anomalies. The case report
attempts to stress the importance of antenatal ultrasonography at 19-20 weeks
for early detection of this anomaly which carries high morbidity and mortality.
Although the pathophysiology of this condition is relatively straightforward,
the clinical care is arduous and complex.
Case Report
A 21 year
old primigravida, married for 2 years, was referred to us at 39 weeks of
gestation with an ultrasonography (USG) suggestive of fetal diaphragmatic
hernia. She had a non-consanguineous marriage and was not using any form of
contraception. She had primary infertility and had undergone diagnostic
hystero-laparoscopy for the same one year ago. She had also undergone six
cycles of intrauterine insemination. She conceived spontaneously. She had no
previous medical or surgical risk factor. She was availing antenatal care in a
private clinic and was detected to be having mild preeclampsia. She was on
tablet alpha methyl dopa 250 mg three times a day. She underwent a anomaly scan at 19 weeks of
gestation which did not reveal any abnormality. A repeat USG was carried out at
28 weeks which revealed polyhydramnios and absence of stomach bubble. She had
developed mild intrauterine growth restriction at 32 weeks of gestation. USG at
36 weeks of gestation revealed left sided congenital diaphragmatic hernia and
liquor on the higher side of normal. She was hence referred to a tertiary care
unit for further management. Her height
was 158 cm and weight was 73 kg. her pulse was 80 beats per minutes and blood
pressure was 130/80 mm Hg. She had no pallor and had mild edema. Cardiovascular
and respiratory system examination was normal. Per abdominal examination
revealed 34 weeks’ pregnancy in cephalic presentation with intrauterine growth
restriction. Her non stress test was reactive. Hemoglobin was 14 g %. Platelet
count was 0.2166/cmm. Her liver and renal functions were within
normal limits. There was no coagulopathy.
Urine showed 2+ proteins. Deep tendon reflexes were normal. The patient
and her relatives were counseled by the treating obstetrician, neonatologist
and pediatric surgeon regarding the condition, prognosis, need of intensive
care support for the baby, need of endotracheal intubation and ventilation,
surgery for correction of the defect, possible early and long term
complications and sequelae. An elective cesarean section was performed at 39
weeks and a boy baby of 2200 g was delivered. The baby did not cry immediately
after birth. It was immediately intubated by a team of neonatologist. The Apgar
score was 2 at one minutes and 3 at five minutes. Cardiopulmonary
resuscitation was initiated. The baby was found to be having low set ears, and
short neck, cleft palate, bilateral undescended testis and facial
abnormalities. It had severe bradycardia and was given adrenaline and atropine.
Cardiopulmonary resuscitation was started and baby was shifted to neonatal
intensive care unit. It expired after one hour due to perinatal depression.
Discussion
CDH occurs
because of a developmental defect in the formation of the diaphragm between
weeks 8 and 10 of gestation.[1] The diaphragmatic defect allows abdominal
organs (intestines, stomach, liver and spleen) to herniate into the chest
cavity. CDH is estimated to occur in 1 of every 3,000 live births.[1,2]
The true incidence remains unknown because of early deaths among severely
affected fetuses and infants, which is commonly described as ‘hidden mortality’
of CDH.[3] Most population studies have not found a sex association
in CDH. Three types of CDH are described,[1] depending on the
location of the diaphragmatic defect: most common Bochdalek type, resulting
from posterolateral defect; Morgagni type, resulting from an anterior defect;
and the pars sternalis type, which occurs due to central diaphragmatic defect.
85% of diaphragmatic defects occur on the left side, 13% are right sided and 2%
are bilateral. Overall survival for isolated CDH remains between 50% and 80%. [3,
4] Using USG, the gold standard technique for antenatal diagnosis of CDH,
most cases are identified prenatally,[5] often between 16 and 24
weeks of gestation. The characteristic USG finding in left sided CDH is
detection of fluid filled stomach within the lower thorax. Additional findings
such as polyhydramnios, small abdominal circumference and mediastinal or
cardiac shift away from the side of the hernia may suggest a fetus that has
CDH. Antenatal counseling includes the option of pregnancy termination,
delivery at a tertiary care center, where the timing of delivery can be
optimized and coordinated with experienced specialists in neonatology and
pediatric surgery.[1] The standard antenatal management to a fetus
with CDH remains expectant, with close and frequent monitoring for the
development of complications. Infants with symptomatic CDH usually present with
respiratory distress and cyanosis in the first few minutes to hours after
birth. Physical examination may demonstrate a scaphoid abdomen, barrel shaped
chest, and increased work of breathing with retractions, grunting and
tachypnea. Auscultation reveals decreased aeration over ipsilateral chest, with
heart sounds shifted to the contralateral side. Bowel sounds may be appreciated
in the chest and chest radiography shows multiple gas-filled loops within the
thorax. [1] Following delivery, swallowed air leads to intestinal
distention that worsens lung compression and mediastinal shift, causing
respiratory distress. If mediastinal compression is severe, venous return may
be impaired, leading to hypoperfusion and systemic hypotension. The resultant
acidosis and hypoxemia further exacerbate the cycle of pulmonary
vasoconstriction and hypoxemia.[1] A prenatal diagnosis of CDH
indicates the need for immediate postnatal endotracheal intubation and
mechanical ventilation to avoid the risk of intestinal distension.
Bag-valve-mask ventilation is not advisable. An adequate size nasogastric tube
should be placed and connected to continuous suction to allow intestinal
decompression. Historically, CDH was considered as a surgical emergency, with
repair performed urgently after birth. However, a delayed surgical approach has
been shown to reduce mortality, presumably by allowing time for preoperative
stabilization and medical management of pulmonary hypertension. Still, the
ideal time for repair remains unknown. Many surgeons delay operative
intervention for up to 7 to 10 days after birth to allow maximal relaxation of
the pulmonary vasculature.[1] Surgical repair is considered once an
infant can maintain adequate exchange using low inspiratory pressures and
pulmonary vascular resistance has decreased. [6]
Conclusion
CDH is the
result of a simple anatomic defect that leads to a complex pathophysiology with
lasting implications. Advancement is the use of USG has led to early detection
of this anomaly and the choice of termination. The survival of the neonates
with CDH cannot be predicted and depends upon many pathological changes in the
lungs and vasculature. The presented case is a rare fatality which occurred
within one hour of birth giving no time for resuscitation, intensive
ventilation and further surgical repair. This sudden mortality cannot be
predicted with ultrasound or any other diagnostic modality. This case also
signifies the importance of counseling after anomaly scan that in spite of CDH
being a surgically treatable condition, medical dysfunctions like lung
hypoplasia, vasospasm, pulmonary hypertension and other anomalies also govern
the outcome. Management requires multidisciplinary approach between
obstetrician, neonatologists and pediatric surgeons. In spited of advances in
medical sciences the outcome infant with CDH is dismal.
References
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Citation
Kulkarni YS, Kakade AS,
Maalavika A. Congenital diaphragmatic hernia. JPGO 2014 Vol 1 Issue 9.
Available from: http://www.jpgo.org/2014/09/congenital-diaphragmatic-hernia.html