History

Fact Explanation
The neonate can be asymptomatic or become symptomatic minutes after birth depending on the lesion Congenital diaphragmatic hernia caused by failure of formation or fusion of the components of the diaphragm. It occurs 1 in 3000 live births. Most common type is Bochdalek (posterolateral) type which become symptomatic shortly after birth. This has a high male predominance. Other types eg. Morgagni (retrosternal) are rare and can be asymptomatic unless strangulation occurs.[1]
Shortness of breath/severe respiratory distress Abdominal contents are herniated into the thoracic cavity through the defect. In Bochdalek type there is a posterolateral defect in the diaphragm, which leads to herniation of small bowel loops, stomach, spleen and left lobe of the liver through the defect and occupying the space in the thoracic cavity. This interferes with the development of the lungs leading to lung hypoplasia.
Collapse If the hernia gut viscera protrudes through the pericardial cavity it may produce cardiac tamponade.
Intolerance of feeds Due to severe cardio-respiratory compromise
Prenatal diagnosis by ultrasound scan A majority of patients are diagnosed by antenatal ultrasound scan. The abdominal contents can be seen protruding into the thorax. Other associated features are absent gastric air bubble, mediastinal shift and polyhydramnios.[2]
Associated other congenital anomalies This can be present in up to 40% of patients. Common associated anomalies are undescended testis, craniofacial defects, cardiovascular abnormalities, abnormalities of the CNS, and genitourinary and/or renal anomalies. Extremity abnormalities and spinal dysraphism may suggest syndromic congenital diaphragmatic hernia
Risk factors and etiological factors The cause is not completely understood. No significant relationship between genetic factors and congenital diaphragmatic hernia is found.[3] The evidence on the role of drugs or chemicals is limited.[4]
References
  1. KESIEME EB, KESIEME CN. Congenital Diaphragmatic Hernia: Review of Current Concept in Surgical Management ISRN Surg [online] 2011:974041 [viewed 06 August 2014] Available from: doi:10.5402/2011/974041
  2. GRAHAM G, DEVINE PC. Antenatal diagnosis of congenital diaphragmatic hernia. Semin Perinatol [online] 2005 Apr, 29(2):69-76 [viewed 06 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/16050524
  3. HOLDER A.M., KLAASSENS M., TIBBOEL D., DE KLEIN A., LEE B., SCOTT D.A.. Genetic Factors in Congenital Diaphragmatic Hernia. The American Journal of Human Genetics [online] 2007 May, 80(5):825-845 [viewed 06 August 2014] Available from: doi:10.1086/513442
  4. TORFS CP, CURRY CJ, BATESON TF, HONORé LH. A population-based study of congenital diaphragmatic hernia. Teratology [online] 1992 Dec, 46(6):555-65 [viewed 06 August 2014] Available from: doi:10.1002/tera.1420460605

Examination

Fact Explanation
Barrel shaped chest Since the bowel loops are inside the thoracic cavity, the thoracic cavity is hyper inflated.[1]
Increased respiratory effort/ Tachypnea Due to lung hypoplasia, the neonate requires more effort for breathing.
Cyanosis The oxygenation of the blood is reduced due to hypoplasia of the lungs.
Reduced breath sounds Due to compression of the lung by the herniated abdominal viscera.
Displaced heart sounds Due to mediastinal shift.
Hypotension , tachycardia Due to reduced cardiac output. This results from kinking of major blood vessels due to mediastinal shift.
Scaphoid abdomen Abdominal contents are herniated into the thoracic cavity.[1]
Audible bowel sounds in the chest Due to the herniated bowel loops into the thoracic cavity.
References
  1. JUWARKAR CS, KAMBLE DS, SAWANT V. A late presenting congenital diaphragmatic hernia misdiagnosed as spontaneous pneumothorax Indian J Anaesth [online] 2010, 54(5):464-466 [viewed 06 August 2014] Available from: doi:10.4103/0019-5049.71034

Differential Diagnoses

Fact Explanation
Congenital cystic adenomatoid malformation A rare condition in which respiratory distress is the commonest presentation. It is difficult to differentiate from the chest X-ray due to cystic appearances in both lesions. Identification of absence of gastric air bubble in the abdomen may be helpful for the diagnosis of congenital diaphragmatic hernia.[1] [2]
Infant respiratory distress syndrome (IRDS) IRDS or Hyaline membrane disease is due to inadequate surfactant within the alveoli. Surfactant reduces surface tension in the alveolar spaces. This leads to collapse of the air-spaces leading to poor air transmission. The main risk factors are prematurity and diabetes in the mother. Surfactant production is mainly in the latter half of the pregnancy. The presentation is with respiratory difficulty usually beginning in the first 6 hours of birth. The neonate will show tachypnea, cyanosis, labored breathing and tachycardia. Diagnosis is usually clinical. Chest X-ray may reveal a ground-glass appearance.[3]
Congenital pneumothorax Presentation is similar to congenital diaphragmatic hernia. The infant develops respiratory distress, tachycardia, reduced breath sounds with a hyper-inflated lung and mediastenal shift. Diagnosis is by clinical information and chest X-ray.[4]
References
  1. HORAK E, BODNER J, GASSNER I, SCHMID T, SIMMA B, GRäSSL G, SAWYER SM. Congenital cystic lung disease: diagnostic and therapeutic considerations. Clin Pediatr (Phila) [online] 2003 Apr, 42(3):251-61 [viewed 06 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/12739924
  2. SFAKIANAKI AK, COPEL JA. Congenital Cystic Lesions of the Lung: Congenital Cystic Adenomatoid Malformation and Bronchopulmonary Sequestration Rev Obstet Gynecol [online] 2012, 5(2):85-93 [viewed 05 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3410507
  3. STEIN JACOB. CONGENITAL PNEUMOTHORAX. Am J Dis Child [online] 1930 July [viewed 06 August 2014] Available from: doi:10.1001/archpedi.1930.01940010100009
  4. BERFENSTAM R., EDLUND T., ZETTERGREN L.. The Hyaline Membrane Disease.. Acta Paediatrica [online] 1958 January, 47(1):82-100 [viewed 06 August 2014] Available from: doi:10.1111/j.1651-2227.1958.tb07861.x

Investigations - for Diagnosis

Fact Explanation
Chest X ray Characteristic features in a left-sided posterolateral congenital diaphragmatic hernia are air or fluid-filled loops of bowel in the left hemithorax and the shift of the cardiac silhouette to the right.[1] Look for evidence of pneumothorax.
barium study[2] Look for the presence of bowel loops within the thoracic cavity
Nasogastric tube insertion test The position of the stomach can be determined. In diaphragmatic hernia the tip of the tube remains within the thoracic cavity. This can be used to differentiate from congenital lung cysts.[2]
References
  1. GIFFIN HZ. THE DIAGNOSIS OF DIAPHRAGMATIC HERNIA Ann Surg [online] 1912 Mar, 55(3):388-397 [viewed 06 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1407392
  2. SAKURAI M, DONNELLY LF, KLOSTERMAN LA, STRIFE JL. Congenital diaphragmatic hernia in neonates: variations in umbilical catheter and enteric tube position. Radiology [online] 2000 Jul, 216(1):112-6 [viewed 06 August 2014] Available from: doi:10.1148/radiology.216.1.r00jl13112

Investigations - Fitness for Management

Fact Explanation
Arterial Blood Gas analysis To assess the degree of respiratory compromise.
Serum lactate level To detect the metabolic acidosis. A normal lactate level, a mixed venous oxygen saturation (SvO2) more than 70%, and the absence of metabolic acidosis are predictors of good outcome.[2]
serum electrolytes The neonate may be severely dehydrated. Electrolyte measures are required for monitoring purposes.
Blood glucose level To monitor the blood glucose level.
References
  1. SAKURAI Y, AZAROW K, CUTZ E, MESSINEO A, PEARL R, BOHN D. Pulmonary barotrauma in congenital diaphragmatic hernia: a clinicopathological correlation. J Pediatr Surg [online] 1999 Dec, 34(12):1813-7 [viewed 06 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/10626861

Investigations - Screening/Staging

Fact Explanation
Echocardiogram to screen for associated cardiac anomalies.[1]
Test for hearing ability Congenital diaphragmatic hernia may be associated with hearing impairment
References
  1. FAUZA DO, WILSON JM. Congenital diaphragmatic hernia and associated anomalies: their incidence, identification, and impact on prognosis. J Pediatr Surg [online] 1994 Aug, 29(8):1113-7 [viewed 06 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/7965516

Management - General Measures

Fact Explanation
Parent education and counseling Information should be provided regarding the diagnosis, complications and treatment options. Provide psychological support to the parents. Due to the high mortality rate, it is important to counsel the parents.
If antenatal diagnosis has already made with posterolateral diaphragmatic hernia transfer the mother to a tertiary level pediatric surgical center before the deliver It is predictable that the baby will need cardio-respiratory support shortly after the birth and necessary surgical actions should be taken when the neonate is stable.[1]
Intensive cardio-respiratory support The newborn baby is likely to develop hypoxia. Non invasive Oxygen therapy should be given, avoid bag ventilation via face mask as this can cause air entering to the stomach and increasing the compression on the lungs. Hyperventilation of the lungs also should be avoided as it can induce complications like tension pneumothorax and barotrauma in small hypoplastic lungs.[2] High frequency oscillatory ventilation in combination with Nitric Oxide has shown improve the survival rate.[3]
Insertion of a nasogastric tube to the stomach To suck out the air from the bowel to prevent dilatation of bowel loops within the chest
References
  1. SMITH N, JESUDASON E, FEATHERSTONE N, CORBETT H, LOSTY P. Recent advances in congenital diaphragmatic hernia Arch Dis Child [online] 2005 Apr, 90(4):426-428 [viewed 06 August 2014] Available from: doi:10.1136/adc.2003.045765
  2. LOGAN JW, COTTEN CM, GOLDBERG RN, CLARK RH. Mechanical ventilation strategies in the management of congenital diaphragmatic hernia. Semin Pediatr Surg [online] 2007 May, 16(2):115-25 [viewed 06 August 2014] Available from: doi:10.1053/j.sempedsurg.2007.01.006
  3. KINSELLA JP, PARKER TA, IVY DD, ABMAN SH. Noninvasive delivery of inhaled nitric oxide therapy for late pulmonary hypertension in newborn infants with congenital diaphragmatic hernia. J Pediatr [online] 2003 Apr, 142(4):397-401 [viewed 05 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/12712057

Management - Specific Treatments

Fact Explanation
Surgical repair Surgery is often required to replace the abdominal organs within the abdominal cavity and repair the diaphragmatic defect. Previously surgery was recommended to be performed as early as possible. Current recommendation is for delayed surgical repair as it is preferred to wait till the neonate is stabilized.[1] Both open and thoracoscopic approaches are currently used. It is important to provide cardio-respiratory support during and after the procedure. Extracorporeal membrane oxygenation [ECMO] is shown to be associated with increased survival.[2]
In-utero surgery This is newer modality of treatment which requires further evaluation. In-utero surgery aims at ligation or occlusion of the fetal trachea. This promotes fetal lung growth. Correction of the diaphragmatic defect itself is not possible. The appropriate timing timing, fetal gestation and prerequisites require further studies.[3]
References
  1. WEST KW, BENGSTON K, RESCORLA FJ, ENGLE WA, GROSFELD JL. Delayed surgical repair and ECMO improves survival in congenital diaphragmatic hernia. Ann Surg [online] 1992 Oct, 216(4):454-462 [viewed 06 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1242652
  2. KEIJZER R, WILSCHUT DE, HOUMES RJ, VAN DE VEN KP, VAN DEN HOUT L, SLUIJTER I, RYCUS P, BAX KM, TIBBOEL D. Congenital diaphragmatic hernia: to repair on or off extracorporeal membrane oxygenation? J Pediatr Surg [online] 2012 Apr, 47(4):631-6 [viewed 06 August 2014] Available from: doi:10.1016/j.jpedsurg.2011.11.016
  3. HARRISON MR, ADZICK NS, FLAKE AW, JENNINGS RW, ESTES JM, MACGILLIVRAY TE, CHUEH JT, GOLDBERG JD, FILLY RA, GOLDSTEIN RB. Correction of congenital diaphragmatic hernia in utero: VI. Hard-earned lessons. J Pediatr Surg [online] 1993 Oct, 28(10):1411-7; discussion 1417-8 [viewed 06 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/8263712