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.)
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.
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.
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.
CDH occurs because of a developmental defect in the formation of the diaphragm between weeks 8 and 10 of gestation. 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. Most population studies have not found a sex association in CDH. Three types of CDH are described, 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, 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. 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.  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. 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. Surgical repair is considered once an infant can maintain adequate exchange using low inspiratory pressures and pulmonary vascular resistance has decreased. 
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.
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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