Diagnostic Considerations

Special concerns

Using ultrasonography, congenital diaphragmatic hernia (CDH) may be prenatally diagnosed as early as the second trimester.^[15]Suggestive findings include polyhydramnios, an absent or intrathoracic stomach bubble, and mediastinal and cardiac shift. A detailed examination (level II ultrasonography) is typically necessary.

Prenatal diagnosis allows for chromosomal analysis and screening for other anomalies prior to the infant's birth. In addition, it allows the mother time to make important decisions about the pregnancy, including delivery in a facility with a neonatal ICU (NICU) that offers advanced respiratory support for the newborn infant.

Developing meaningful prognostic information before birth continues to be difficult. Some advocate for assessment of lung hypoplasia using ultrasound measurements of liver herniation into the thorax, lung to head ratios (LHR), or pulmonary artery to aorta ratios (modified McGoon index). MRI of the fetus is a promising technique that allows more precise measurement of the lung volume indexed to the body volume.^[16]

Differential Diagnoses

Bronchopulmonary Sequestration
Cystic Adenomatoid Malformation
Disorders of the Thoracic Cavity and Pleura
Persistent Pulmonary Hypertension of the Newborn (PPHN)
Pneumothorax Imaging

Workup

Vijfhuize S, Schaible T, Kraemer U, Cohen-Overbeek TE, Tibboel D, Reiss I. Management of pulmonary hypertension in neonates with congenital diaphragmatic hernia. Eur J Pediatr Surg. 2012 Oct. 22(5):374-83. [QxMD MEDLINE Link].
Harrison MR, Keller RL, Hawgood SB, et al. A randomized trial of fetal endoscopic tracheal occlusion for severe fetal congenital diaphragmatic hernia. N Engl J Med. 2003 Nov 13. 349(20):1916-24. [QxMD MEDLINE Link].
Jelin E, Lee H. Tracheal occlusion for fetal congenital diaphragmatic hernia: the US experience. Clin Perinatol. 2009 Jun. 36(2):349-61, ix. [QxMD MEDLINE Link].
Gross RE. Congenital hernia of the diaphragm. Am J Dis Child. 1946. 71:579-592.
Areechon W, Reid L. Hypoplasia of the lung associated with congenital diaphragmatic hernia. Br Med J. 1963. i:230-3.
Klaassens M, de Klein A, Tibboel D. The etiology of congenital diaphragmatic hernia: still largely unknown?. Eur J Med Genet. 2009 Sep-Oct. 52(5):281-6. [QxMD MEDLINE Link].
Jandus P, Savioz D, Purek L, Frey JG, Schnyder JM, Tschopp JM. [Bochdalek hernia: a rare cause of dyspnea and abdominal pain in adults]. Rev Med Suisse. 2009 May 13. 5(203):1061-4. [QxMD MEDLINE Link].
Marichez A, Fernandez B, Chiche L. Bochdalek diaphragmatic hernia with bowel incarceration. J Visc Surg. 2020 Dec 15. [QxMD MEDLINE Link].
Sluiter I, Veenma D, van Loenhout R, Rottier R, de Klein A, Keijzer R, et al. Etiological and pathogenic factors in congenital diaphragmatic hernia. Eur J Pediatr Surg. 2012 Oct. 22(5):345-54. [QxMD MEDLINE Link].
Clugston RD, Zhang W, Alvarez S, De Lera AR, Greer JJ. Understanding Abnormal Retinoid Signaling as a Causative Mechanism in Congenital Diaphragmatic Hernia. Am J Respir Cell Mol Biol. 2009 May 15. [QxMD MEDLINE Link].
Fisher JC, Haley MJ, Ruiz-Elizalde A, Stolar CJ, Arkovitz MS. Multivariate model for predicting recurrence in congenital diaphragmatic hernia. J Pediatr Surg. 2009 Jun. 44(6):1173-9; discussion 1179-80. [QxMD MEDLINE Link].
Low ZK, Tan ASM, Nakao M, Yap KH. Congenital diaphragmatic hernia repair in patients requiring extracorporeal membrane oxygenation: are outcomes better with repair on ECMO or after decannulation?. Interact Cardiovasc Thorac Surg. 2020 Dec 8. [QxMD MEDLINE Link].
[Guideline] Wild KT, Rintoul N, Kattan J, Gray B. Extracorporeal Life Support Organization (ELSO): Guidelines for neonatal respiratory failure. ASAIO J. 2020 May. 66 (5):463-70. [QxMD MEDLINE Link]. [Full Text].
Keller RL, Tacy TA, Hendricks-Munoz K, et al. Congenital diaphragmatic hernia: endothelin-1, pulmonary hypertension, and disease severity. Am J Respir Crit Care Med. 2010 Aug 15. 182(4):555-61. [QxMD MEDLINE Link]. [Full Text].
Mitanchez D. [Neonatal prognosis of congenital diaphragmatic hernia]. Arch Pediatr. 2009 Jun. 16(6):888-90. [QxMD MEDLINE Link].
Keller RL. Antenatal and postnatal lung and vascular anatomic and functional studies in congenital diaphragmatic hernia: implications for clinical management. Am J Med Genet C Semin Med Genet. 2007 May 15. 145C(2):184-200. [QxMD MEDLINE Link].
Bryner BS, West BT, Hirschl RB, et al. Congenital diaphragmatic hernia requiring extracorporeal membrane oxygenation: does timing of repair matter?. J Pediatr Surg. 2009 Jun. 44(6):1165-71; discussion 1171-2. [QxMD MEDLINE Link].
Mehollin-Ray AR. Congenital diaphragmatic hernia. Pediatr Radiol. 2020 Dec. 50 (13):1855-71. [QxMD MEDLINE Link].
Deprest JA, Gratacos E, Nicolaides K, et al. Changing perspectives on the perinatal management of isolated congenital diaphragmatic hernia in Europe. Clin Perinatol. 2009 Jun. 36(2):329-47, ix. [QxMD MEDLINE Link].
Walsh-Sukys MC, Tyson JE, Wright LL, et al. Persistent pulmonary hypertension of the newborn in the era before nitric oxide: practice variation and outcomes. Pediatrics. 2000 Jan. 105(1 Pt 1):14-20. [QxMD MEDLINE Link].
Novotny AM. The use of inhaled nitric oxide in ocngenital diaphragmatic hernia. Adv Neonatal Care. 2020 Dec. 20 (6):479-86. [QxMD MEDLINE Link].
Fliman PJ, deRegnier RA, Kinsella JP, Reynolds M, Rankin LL, Steinhorn RH. Neonatal extracorporeal life support: impact of new therapies on survival. J Pediatr. 2006 May. 148(5):595-9. [QxMD MEDLINE Link].
NINOS. Inhaled nitric oxide and hypoxic respiratory failure in infants with congenital diaphragmatic hernia. The Neonatal Inhaled Nitric Oxide Study Group (NINOS). Pediatrics. 1997 Jun. 99(6):838-45. [QxMD MEDLINE Link]. [Full Text].
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. 2003 Apr. 142(4):397-401. [QxMD MEDLINE Link].
Gentili A, Giuntoli L, Bacchi Reggiani ML, Masciopinto F, Lima M, Baroncini S. Neonatal congenital diaphragmatic hernia: respiratory and blood-gas derived indices in choosing surgical timing. Minerva Anestesiol. 2012 Oct. 78(10):1117-25. [QxMD MEDLINE Link].
Guglielmetti LC, Estrada AE, Phillips R, et al. Congenital diaphragmatic hernias: severe defect grade predicts the need for fundoplication. Medicine (Baltimore). 2020 Dec 4. 99 (49):e23383. [QxMD MEDLINE Link]. [Full Text].
Peetsold M, Huisman J, Hofman VE, Heij HA, Raat H, Gemke RJ. Psychological outcome and quality of life in children born with congenital diaphragmatic hernia. Arch Dis Child. 2009 Jun 15. [QxMD MEDLINE Link].
Albanese CT, Lopoo J, Goldstein RB, et al. Fetal liver position and perinatal outcome for congenital diaphragmatic hernia. Prenat Diagn. 1998 Nov. 18(11):1138-42. [QxMD MEDLINE Link].
Bohn DJ, Pearl R, Irish MS, Glick PL. Postnatal management of congenital diaphragmatic hernia. Clin Perinatol. 1996 Dec. 23(4):843-72. [QxMD MEDLINE Link].
Clark RH, Hardin WD Jr, Hirschl RB, et al. Current surgical management of congenital diaphragmatic hernia: a report from the Congenital Diaphragmatic Hernia Study Group. J Pediatr Surg. 1998 Jul. 33(7):1004-9. [QxMD MEDLINE Link].
Colvin J, Bower C, Dickinson JE, Sokol J. Outcomes of congenital diaphragmatic hernia: a population-based study in Western Australia. Pediatrics. 2005 Sep. 116(3):e356-63. [QxMD MEDLINE Link]. [Full Text].
Cortes RA, Keller RL, Townsend T, et al. Survival of severe congenital diaphragmatic hernia has morbid consequences. J Pediatr Surg. 2005 Jan. 40(1):36-45; discussion 45-6. [QxMD MEDLINE Link].
Finer NN, Tierney A, Etches PC, Peliowski A, Ainsworth W. Congenital diaphragmatic hernia: developing a protocolized approach. J Pediatr Surg. 1998 Sep. 33(9):1331-7. [QxMD MEDLINE Link].
Garred P, Madsen HO, Balslev U, et al. Susceptibility to HIV infection and progression of AIDS in relation to variant alleles of mannose-binding lectin. Lancet. 1997 Jan 25. 349(9047):236-40. [QxMD MEDLINE Link].
Kapur P, Holm BA, Irish MS, Patel A, Glick PL. Tracheal ligation and mechanical ventilation do not improve the antioxidant enzyme status in the lamb model of congenital diaphragmatic hernia. J Pediatr Surg. 1999 Feb. 34(2):270-2. [QxMD MEDLINE Link].
Kays DW, Langham MR Jr, Ledbetter DJ, Talbert JL. Detrimental effects of standard medical therapy in congenital diaphragmatic hernia. Ann Surg. 1999 Sep. 230(3):340-8; discussion 348-51. [QxMD MEDLINE Link]. [Full Text].
Kehl S, Becker L, Eckert S, Weiss C, Schaible T, Neff KW, et al. Prediction of mortality and the need for neonatal extracorporeal membrane oxygenation therapy by 3-dimensional sonography and magnetic resonance imaging in fetuses with congenital diaphragmatic hernias. J Ultrasound Med. 2013 Jun. 32(6):981-8. [QxMD MEDLINE Link].
Lally KP. Extracorporeal membrane oxygenation in patients with congenital diaphragmatic hernia. Semin Pediatr Surg. 1996 Nov. 5(4):249-55. [QxMD MEDLINE Link].
Lally KP, Breaux CW Jr. A second course of extracorporeal membrane oxygenation in the neonate--is there a benefit?. Surgery. 1995 Feb. 117(2):175-8. [QxMD MEDLINE Link].
Lally KP, Lally PA, Langham MR, et al. Surfactant does not improve survival rate in preterm infants with congenital diaphragmatic hernia. J Pediatr Surg. 2004 Jun. 39(6):829-33. [QxMD MEDLINE Link].
Langham MR Jr, Kays DW, Ledbetter DJ, Frentzen B, Sanford LL, Richards DS. Congenital diaphragmatic hernia. Epidemiology and outcome. Clin Perinatol. 1996 Dec. 23(4):671-88. [QxMD MEDLINE Link].
[Guideline] Maisch B, Seferovic PM, Ristic AD, et al. Guidelines on the diagnosis and management of pericardial diseases. European Society of Cardiology. 2004.
Nobuhara KK, Lund DP, Mitchell J, Kharasch V, Wilson JM. Long-term outlook for survivors of congenital diaphragmatic hernia. Clin Perinatol. 1996 Dec. 23(4):873-87. [QxMD MEDLINE Link].
Nobuhara KK, Wilson JM. Pathophysiology of congenital diaphragmatic hernia. Semin Pediatr Surg. 1996 Nov. 5(4):234-42. [QxMD MEDLINE Link].
O'Toole SJ, Irish MS, Holm BA, Glick PL. Pulmonary vascular abnormalities in congenital diaphragmatic hernia. Clin Perinatol. 1996 Dec. 23(4):781-94. [QxMD MEDLINE Link].
Reickert CA, Hirschl RB, Atkinson JB, et al. Congenital diaphragmatic hernia survival and use of extracorporeal life support at selected level III nurseries with multimodality support. Surgery. 1998 Mar. 123(3):305-10. [QxMD MEDLINE Link].
Slavotinek AM. The genetics of congenital diaphragmatic hernia. Semin Perinatol. 2005 Apr. 29(2):77-85. [QxMD MEDLINE Link].
Stege G, Fenton A, Jaffray B. Nihilism in the 1990s: the true mortality of congenital diaphragmatic hernia. Pediatrics. 2003 Sep. 112(3 Pt 1):532-5. [QxMD MEDLINE Link]. [Full Text].
Steinhorn RH, Kriesmer PJ, Green TP, McKay CJ, Payne NR. Congenital diaphragmatic hernia in Minnesota. Impact of antenatal diagnosis on survival. Arch Pediatr Adolesc Med. 1994 Jun. 148(6):626-31. [QxMD MEDLINE Link].
Stolar CJ. What do survivors of congenital diaphragmatic hernia look like when they grow up?. Semin Pediatr Surg. 1996 Nov. 5(4):275-9. [QxMD MEDLINE Link].
Van Meurs K. Is surfactant therapy beneficial in the treatment of the term newborn infant with congenital diaphragmatic hernia?. J Pediatr. 2004 Sep. 145(3):312-6. [QxMD MEDLINE Link].
Weinstein S, Stolar CJ. Newborn surgical emergencies. Congenital diaphragmatic hernia and extracorporeal membrane oxygenation. Pediatr Clin North Am. 1993 Dec. 40(6):1315-33. [QxMD MEDLINE Link].
Wilcox DT, Irish MS, Holm BA, Glick PL. Pulmonary parenchymal abnormalities in congenital diaphragmatic hernia. Clin Perinatol. 1996 Dec. 23(4):771-9. [QxMD MEDLINE Link].
Wilson JM, Lund DP, Lillehei CW, Vacanti JP. Congenital diaphragmatic hernia--a tale of two cities: the Boston experience. J Pediatr Surg. 1997 Mar. 32(3):401-5. [QxMD MEDLINE Link].
[Guideline] Extracorporeal Life Support Organization (ELSO). Patient care practice guidelines. Available at https://www.elso.org/resources/guidelines.aspx. Accessed: December 22, 2020.
[Guideline] Maratta C, Potera RM, van Leeuwen G, Castillo Moya A, Raman L, Annich GM. Extracorporeal Life Support Organization (ELSO): 2020 Pediatric respiratory ELSO guideline. ASAIO J. 2020 Sep/Oct. 66 (9):975-9. [QxMD MEDLINE Link]. [Full Text].
Brungardt JG, Nix QA, Schropp KP. Congenital diaphragmatic hernia: demographics and 30-day outcomes in adults. Am Surg. 2020 Dec 19. 3134820960061. [QxMD MEDLINE Link].

Media Gallery

Pediatric Congenital Diaphragmatic Hernia. Radiograph of a 1-day-old infant with a moderate-sized congenital diaphragmatic hernia (CDH). Note the air- and fluid-filled bowel loops in the left chest, the moderate shift of the mediastinum into the right chest, and the position of the orogastric tube.

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Author

Robin H Steinhorn, MD Raymond and Hazel Speck Berry Professor of Pediatrics, Division Head of Neonatology, Vice Chair of Pediatrics, Northwestern University, The Feinberg School of Medicine

Robin H Steinhorn, MD is a member of the following medical societies: Alpha Omega Alpha, American Pediatric Society, American Academy of Pediatrics, American Heart Association, American Thoracic Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Coauthor(s)

Nicolas FM Porta, MD Associate Professor, Department of Pediatrics, Northwestern University, The Feinberg School of Medicine; Attending Physician in Neonatalogy, Co-Director, Pediatric Pulmonary Hypertension Program, Ann and Robert H Lurie Children's Hospital of Chicago; Medical Staff, Prentice Women's Hospital-Northwestern Memorial Hospital

Nicolas FM Porta, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Received consulting fee for participating in a clinical study steering committee. for: United Therapeutics.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Arun K Pramanik, MD, DCH, FAAP, FIAP, FRCP Professor of Pediatrics, LSU Health, Louisiana State University School of Medicine in Shreveport

Arun K Pramanik, MD, DCH, FAAP, FIAP, FRCP is a member of the following medical societies: American Academy of Pediatrics, American Thoracic Society, National Perinatal Association, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Dharmendra J Nimavat, MD, FAAP Associate Professor of Clinical Pediatrics, Department of Pediatrics, Division of Neonatology, Southern Illinois University School of Medicine; Staff Neonatologist, Clinical Director, NICU Regional Perinatal Center, HSHS St John's Children's Hospital

Dharmendra J Nimavat, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association of Physicians of Indian Origin

Disclosure: Nothing to disclose.

Additional Contributors

David N Sheftel, MD Assistant Professor of Pediatrics, Chicago Medical School at Rosalind Franklin University of Medicine and SciencE

David N Sheftel, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics

Disclosure: Nothing to disclose.

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 Pediatric Society, Eastern Society for Pediatric Research, American Medical Association, Connecticut State Medical Society, Society for Pediatric Research

Disclosure: Nothing to disclose.