eMedicine Specialties > Pediatrics: Cardiac Disease and Critical Care Medicine > Neonatology

Congenital Diaphragmatic Hernia: Differential Diagnoses & Workup

Author: Robin H Steinhorn, MD, Raymond and Hazel Speck Berry Professor of Pediatrics, Division Head of Neonatology, Associate Chair of Pediatrics, Northwestern University School of Medicine
Contributor Information and Disclosures

Updated: Jul 7, 2009

Differential Diagnoses

Cystic Adenomatoid Malformation
Disorders of the Thoracic Cavity and Pleura
Pneumothorax
Pulmonary Hypertension, Persistent-Newborn

Other Problems to Be Considered

Bronchopulmonary sequestration

Workup

Laboratory Studies

The following studies may be indicated in congenital diaphragmatic hernia (CDH):

  • ABG: Obtain frequent ABG 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.
  • Chromosome studies: Obtain chromosome studies because of the frequent association with chromosomal anomalies. In rare cases (eg, Pallister-Killian syndrome), chromosomal disorders that can be diagnosed only based on skin biopsy findings may be present. If dysmorphic features are observed upon examination, a consultation with a geneticist is often helpful in evaluating the infant and ensuring that chromosome studies include appropriate deletion analysis.
  • Serum electrolytes: As with all critically ill neonates, monitor levels of serum electrolytes, ionized calcium, and glucose initially and frequently. Maintaining glucose levels in the reference range and maintaining calcium homeostasis are particularly important.

Imaging Studies

  • Chest radiography
    • Obtain a chest radiograph if congenital diaphragmatic hernia is suspected. 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 and shift of the cardiac silhouette to the right. Examine the chest radiograph for evidence of pneumothorax.
  • Cardiac ultrasonography: The incidence of associated cardiac anomalies is high (£25%); therefore, cardiac ultrasonography is needed shortly after birth. Cardiac defects may be relatively minor (atrial septal defect) or life-threatening (transposition of great vessels, hypoplastic left heart). In addition, echocardiography is helpful in assessing myocardial function and determining whether the left ventricular mass is significantly decreased.
  • Renal ultrasonography: Genitourinary anomalies occur in 6-8% of infants with congenital diaphragmatic hernia; renal ultrasonography should be considered.
  • Cranial ultrasonography: CNS defects (neural tube defects, hydrocephalus) may be associated with congenital diaphragmatic hernia. However, bedside cranial sonography is generally performed when an infant is considered for extracorporeal support. In that circumstance, the goal is to evaluate for intraventricular bleeding and hypoxic-ischemic changes, as well as to rule out intracranial anomalies.

Other Tests

  • Pulse oximetry: 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.

Procedures

  • Intubation and mechanical ventilation
    • Endotracheal intubation and mechanical ventilation are required in all infants with severe congenital diaphragmatic hernia who present in the first hours of life. If the diagnosis is known at the time of delivery, avoid bag-and-mask ventilation in the delivery room because the stomach and intestines become distended with air and further compromise pulmonary function. A nasogastric tube should be placed as soon as possible to provide intestinal decompression.
    • As discussed in Treatment, the goal is to expand the lung but to avoid overdistension; therefore, inspiratory pressures should be kept as low as possible. Consider the use of high-frequency ventilation (HFV) if high inspiratory pressures are required.
  • Arterial catheter placement: Place an indwelling catheter in the umbilical artery or in a peripheral artery (radial, posterior tibial) for blood pressure and frequent ABG monitoring.
  • Central venous catheter placement: Place a venous catheter via the umbilical vein to allow for administration of inotropic agents and hypertonic solutions such as calcium gluconate. If the liver is in the chest, the catheter will likely not pass through the ductus venosus, and another route must be considered for central venous access.
  • High-frequency ventilation
    • The use of HFV in congenital diaphragmatic hernia remains controversial, and no randomized studies indicate a clear benefit. However, HFV may allow for use of lower ventilator pressures and may help normalize PaCO2.
    • Mean airway pressures should be carefully adjusted to avoid lung overdistension. Frequent radiography may help in the ongoing assessment of lung expansion.
  • Extracorporeal membrane oxygenation (ECMO)6
    • Venoarterial or venovenous ECMO support is an adaptation of cardiopulmonary bypass and involves a surgical team; insertion of catheters into the internal carotid artery, internal jugular vein, or both; systemic heparinization; and oxygenation through the use of a membrane lung.
    • Because of its complexity and need for resources, ECMO is available at fewer than 100 centers in the United States.
    • The overall survival rate for infants with congenital diaphragmatic hernia reported to the international Extracorporeal Life Support Organization (ELSO) registry is approximately 52%, which is the lowest rate in all the neonatal conditions treated with ECMO.
    • Although no conclusive evidence shows that ECMO improves survival or outcome for infants with congenital diaphragmatic hernia, it remains a commonly used therapy for severely affected infants.

Histologic Findings

  • Both lungs appear abnormal, although histologic changes are more severe on the affected side. Bronchi are less numerous, and the overall number of alveoli is reduced.
  • In addition, the lungs appear to be less mature with fewer mature alveoli. Pulmonary vascular abnormalities occur in addition to parenchymal abnormalities, characterized by both a reduction in the cross-sectional area of the pulmonary vascular bed and an abnormal increase in muscularization of pulmonary arteries and arterioles.

More on Congenital Diaphragmatic Hernia

Overview: Congenital Diaphragmatic Hernia
Differential Diagnoses & Workup: Congenital Diaphragmatic Hernia
Treatment & Medication: Congenital Diaphragmatic Hernia
Follow-up: Congenital Diaphragmatic Hernia
Multimedia: Congenital Diaphragmatic Hernia
References
Further Reading
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References

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Keywords

congenital diaphragmatic hernia, CDH, Bochdalek hernia, posterolateral Bochdalek hernia, the anterior Morgagni hernia, hiatus hernia, pulmonary hypoplasia, pulmonary hypertension, cardiac maldevelopment, ventricular hypoplasia, Cornelia de Lange syndrome, Fryns syndrome, cleft lip, cleft palate, pneumothorax, polyhydramnios, respiratory distress, cyanosis, trisomy 13, trisomy 18, trisomy 21, Turner syndrome, Pallister-Killian syndrome, aortic stenosis, treatment, diagnosis

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Contributor Information and Disclosures

Author

Robin H Steinhorn, MD, Raymond and Hazel Speck Berry Professor of Pediatrics, Division Head of Neonatology, Associate Chair of Pediatrics, Northwestern University School of Medicine
Robin H Steinhorn, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Heart Association, American Pediatric Society, American Thoracic Society, and Society for Pediatric Research
Disclosure: Ikaria (INO Therapeutics) Consulting fee Consulting

Medical Editor

David N Sheftel, MD, Director, Division of Neonatology, Clinical Associate Professor, Department of Pediatrics, Lutheran General Children's Hospital of Park Ridge, Chicago Medical School
David N Sheftel, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine and American Academy of Pediatrics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Arun K Pramanik, MD, MBBS, Professor of Pediatrics, Director of Neonatal Fellowship, Louisiana State University Health Sciences Center
Arun K Pramanik, MD, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Thoracic Society, National Perinatal Association, and Southern Society for Pediatric Research
Disclosure: Nothing to disclose.

CME Editor

Carol L Wagner, MD, Professor of Pediatrics, Medical University of South Carolina
Carol L Wagner, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American Medical Women's Association, American Public Health Association, American Society for Bone and Mineral Research, American Society for Clinical Nutrition, Massachusetts Medical Society, National Perinatal Association, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Chief Editor

Ted Rosenkrantz, MD, Professor, Departments of Pediatrics and Obstetrics/Gynecology, Division of Neonatal-Perinatal Medicine, University of Connecticut School of Medicine
Ted Rosenkrantz, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Pediatric Society, Connecticut State Medical Society, Eastern Society for Pediatric Research, and Society for Pediatric Research
Disclosure: Nothing to disclose.

 
 
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