Diaphragmatic Hernias Workup

  • Author: Nicola Lewis, MBBS, FRCS (Paed Surg); Chief Editor: Marleta Reynolds, MD   more...
 
Updated: Aug 1, 2011
 

Laboratory Studies

Antenatal

  • Amniocentesis for karyotype analysis should accompany a diagnosis of congenital diaphragmatic hernia (CDH).
  • Maternal serum alpha-fetoprotein may be low in cases of congenital diaphragmatic hernia.

Postnatal

Next

Imaging Studies

Llevel III ultrasonography and echocardiography should accompany a diagnosis of congenital diaphragmatic hernia. Prenatal echocardiography may identify cardiac anomalies (more commonly, ventricular hypoplasia, atrial septal defects, and ventricular septal defects).[13] In centers where fetal intervention and postnatal management protocols are determined by antenatal assessment of pulmonary hypoplasia, lung to head ratios (LHR) and lung-to-thorax transverse ratio (L/T) are calculated. One definition of the LHR is the area of the contralateral lung (the product of the 2 longest perpendiculars)/head circumference at the 4 chamber view. L/T is the ratio of the area of the contralateral lung/area of thorax at the 4 chamber view on ultrasonography.[14]

Chest radiography

An early chest radiograph is obtained to confirm the diagnosis of congenital diaphragmatic hernia.

Findings include loops of bowel in the chest, mediastinal shift, paucity of bowel gas in the abdomen, and presence of the tip of a nasogastric tube in the thoracic stomach (see image below). Repeated chest radiography may reveal a change in the intrathoracic gas pattern.

Radiograph of an infant with congenital diaphragmaRadiograph of an infant with congenital diaphragmatic hernia. Note shift of the mediastinum to the right, air-filled bowel in the left chest, and the position of the orogastric tube.

Right-sided lesions are difficult to differentiate from diaphragmatic eventration and lobar consolidation.

Echocardiography

Further investigations should include early echocardiography, which may reveal cardiac defects, decreased left ventricular mass, poor ventricular contractility, pulmonary and tricuspid valve regurgitation, and right-to-left shunting.

Repeated echocardiography is recommended to measure changes in the pulmonary artery pressure, left-to-right shunt, and flow across the ductus arteriosus.

Previous
 
 
Contributor Information and Disclosures
Author

Nicola Lewis, MBBS, FRCS (Paed Surg),  Department of Surgery, Birmingham Children's Hospital, UK

Nicola Lewis, MBBS, FRCS (Paed Surg), is a member of the following medical societies: British Association of Paediatric Surgeons

Disclosure: Nothing to disclose.

Coauthor(s)

Philip Glick, MD, MBA  Professor, Departments of Surgery, Pediatrics, and Gynecology and Obstetrics, Vice-Chairperson for Finance and Development, Department of Surgery, State University of New York at Buffalo

Philip Glick, MD, MBA is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Surgeons, American Medical Association, American Pediatric Surgical Association, American Thoracic Society, Association for Academic Surgery, Association for Surgical Education, Central Surgical Association, Federation of American Societies for Experimental Biology, Medical Society of the State of New York, Phi Beta Kappa, Physicians for Social Responsibility, Royal College of Surgeons of England, Sigma Xi, Society for Pediatric Research, Society for Surgery of the Alimentary Tract, Society of Critical Care Medicine, and Society of University Surgeons

Disclosure: Nothing to disclose.

Specialty Editor Board

Robert K Minkes, MD, PhD  Professor of Surgery, University of Texas Southwestern Medical Center at Dallas, Southwestern Medical School; Medical Director and Chief of Surgical Services, Children's Medical Center of Dallas-Legacy Campus

Robert K Minkes, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American College of Surgeons, American Medical Association, American Pediatric Surgical Association, and Phi Beta Kappa

Disclosure: Nothing to disclose.

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.

Andre Hebra, MD  Chief, Division of Pediatric Surgery, Professor of Surgery and Pediatrics, Medical University of South Carolina College of Medicine; Surgeon-in-Chief, Medical University of South Carolina Children's Hospital

Andre Hebra, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Surgeons, American Medical Association, American Pediatric Surgical Association, Children's Oncology Group, Florida Medical Association, International Pediatric Endosurgery Group, Society of American Gastrointestinal and Endoscopic Surgeons, Society of Laparoendoscopic Surgeons, South Carolina Medical Association, Southeastern Surgical Congress, and Southern Medical Association

Disclosure: Nothing to disclose.

H Biemann Othersen Jr, MD  Professor of Surgery and Pediatrics, Emeritus Head, Division of Pediatric Surgery, Medical University of South Carolina

H Biemann Othersen Jr, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Association for the Surgery of Trauma, American Burn Association, American Cancer Society, American College of Surgeons, American Medical Association, American Pediatric Surgical Association, American Society for Parenteral and Enteral Nutrition, American Surgical Association, American Thoracic Society, British Association of Paediatric Surgeons, Society for Surgery of the Alimentary Tract, Society of Critical Care Medicine, South Carolina Medical Association, Southeastern Surgical Congress, Southern Medical Association, Southern Society for Pediatric Research, and Southern Thoracic Surgical Association

Disclosure: Nothing to disclose.

Chief Editor

Marleta Reynolds, MD  Professor of Surgery, Northwestern University, The Feinberg School of Medicine; Head, Department of Surgery and Surgeon in Chief, Head, Division of Pediatric Surgery, Children's Memorial Hospital of Chicago

Marleta Reynolds, MD is a member of the following medical societies: American Pediatric Surgical Association

Disclosure: Nothing to disclose.

References
  1. Irish MS, Holm BA, Glick PL. Congenital diaphragmatic hernia. A historical review. Clin Perinatol. Dec 1996;23(4):625-53. [Medline].

  2. Ladd WE, Gross RE. Congenital diaphragmatic hernia. N Engl J Med. 1940;223:917-25.

  3. Koop CE, Johnson J. Transthoracic repair of diaphragmatic hernia in infants. Ann Surg. Dec 1952;136(6):1007-11. [Medline].

  4. Tonks A, Wyldes M, Sommerset DA, et al. Congenital malformations of the diaphragm: findings of the West Midlands congenital anomaly register 1995 to 2000. prenatal diagnosis. 2004;24:596-604. [Medline].

  5. Torfs CP, Curry CJ, Bateson TF, Honore LH. A population-based study of congenital diaphragmatic hernia. Teratology. Dec 1992;46(6):555-65. [Medline].

  6. 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. Jul 1998;33(7):1004-9. [Medline].

  7. Downard C, Jaksic T, Garza J, et al. Analysis of an improved survival rate for congenital diaphragmatic hernia. Journal of Pediatric Surgery. 2003;38:729-732. [Medline].

  8. Iritani I. Experimental study on embryogenesis of congenital diaphragmatic hernia. Anat Embryol (Berl). 1984;169(2):133-9. [Medline].

  9. Koivusalo AI, Pakarinen MP, Lindahl HG, Rintala RJ. The cumulative incidence of significant gastroesophageal reflux in patients with congenital diaphragmatic hernia-a systematic clinical, pH-metric, and endoscopic follow-up study. J Pediatr Surg. Feb 2008;43(2):279-82. [Medline].

  10. Glick PL, Pohlson EC, Resta R, et al. Maternal serum alpha-fetoprotein is a marker for fetal anomalies in pediatric surgery. J Pediatr Surg. Jan 1988;23(1 Pt 2):16-20. [Medline].

  11. Janssen DJ, Tibboel D, Carnielli VP, et al. Surfactant phosphatidylcholine pool size in human neonates with congenital diaphragmatic hernia requiring ECMO. J Pediatr. Mar 2003;142(3):247-52. [Medline].

  12. Lotze A, Knight GR, Anderson KD, et al. Surfactant (beractant) therapy for infants with congenital diaphragmatic hernia on ECMO: evidence of persistent surfactant deficiency. J Pediatr Surg. Mar 1994;29(3):407-12. [Medline].

  13. Fauza DO, Wilson JM. Congenital diaphragmatic hernia and associated anomalies: their incidence, identification, and impact on prognosis. J Pediatr Surg. Aug 1994;29(8):1113-7. [Medline].

  14. Usui N, Kitano Y, Okuyama H, Saito M, Morikawa N, Takayasu H. Reliability of the lung to thorax transverse area ratio as a predictive parameter in fetuses with congenital diaphragmatic hernia. Pediatr Surg Int. Jan 2011;27(1):39-45. [Medline].

  15. Bagolan P, Casaccia G, Crescenzi F, Nahom A, Trucchi A, Giorlandino C. Impact of a current treatment protocol on outcome of high-risk congenital diaphragmatic hernia. J Pediatr Surg. Mar 2004;39(3):313-8; discussion 313-8. [Medline].

  16. Chess PR. The effects of gentle ventilation on survival in congenital diaphragmatic hernia. Pediatrics. 2004;113:917. [Medline].

  17. Reyes C, Chang LK, Waffarn F, Mir H, Warden MJ, Sills J. Delayed repair of congenital diaphragmatic hernia with early high-frequency oscillatory ventilation during preoperative stabilization. J Pediatr Surg. Jul 1998;33(7):1010-4; discussion 1014-6. [Medline].

  18. Ng GY, Derry C, Marston L, Choudhury M, Holmes K, Calvert SA. Reduction in ventilator-induced lung injury improves outcome in congenital diaphragmatic hernia?. Pediatr Surg Int. Feb 2008;24(2):145-50. [Medline].

  19. Bos AP, Tibboel D, Hazebroek FW, Molenaar JC, Lachmann B, Gommers D. Surfactant replacement therapy in high-risk congenital diaphragmatic hernia. Lancet. Nov 16 1991;338(8777):1279. [Medline].

  20. Glick PL, Leach CL, Besner GE, et al. Pathophysiology of congenital diaphragmatic hernia. III: Exogenous surfactant therapy for the high-risk neonate with CDH. J Pediatr Surg. Jul 1992;27(7):866-9. [Medline].

  21. Colby CE, Lally KP, Hintz SR, et al. Surfactant replacement therapy on ECMO does not improve outcome in neonates with congenital diaphragmatic hernia. Journal of Pediatric Surgery. 2004;39(11):1632-7. [Medline].

  22. Karamanoukian HL, O'Toole SJ, Glick PL. "State-of-the-art" management strategies for the fetus and neonate with congenital diaphragmatic hernia. J Perinatol. Mar-Apr 1996;16(2 Pt 2 Su):S40-7. [Medline].

  23. Scaife ER, Johnson DG, Meyers RL, Johnson SM, Matlak ME. The split abdominal wall muscle flap--a simple, mesh-free approach to repair large diaphragmatic hernia. J Pediatr Surg. Dec 2003;38(12):1748-51. [Medline].

  24. Okazaki T, Hasegawa S, Urushihara N, et al. Toldt's fascia flap: a new technique for repairing large diaphragmatic hernias. Pediatr Surg Int. Jan 2005;21(1):64-7. [Medline].

  25. Masumoto K, Nagata K, Souzaki R, Uesugi T, Takahashi Y, Taguchi T. Effectiveness of diaphragmatic repair using an abdominal muscle flap in patients with recurrent congenital diaphragmatic hernia. J Pediatr Surg. Dec 2007;42(12):2007-11. [Medline].

  26. Gander JW, Fisher JC, Gross ER, Reichstein AR, Cowles RA, Aspelund G. Early recurrence of congenital diaphragmatic hernia is higher after thoracoscopic than open repair: a single institutional study. J Pediatr Surg. Jul 2011;46(7):1303-8. [Medline].

  27. Okazaki T, Nishimura K, Takahashi T, Shoji H, Shimizu T, Tanaka T. Indications for thoracoscopic repair of congenital diaphragmatic hernia in neonates. Pediatr Surg Int. Jan 2011;27(1):35-8. [Medline].

  28. Wilson JM, Bower LK, Lund DP. Evolution of the technique of congenital diaphragmatic hernia repair on ECMO. J Pediatr Surg. Aug 1994;29(8):1109-12. [Medline].

  29. St Peter SD, Valusek PA, Tsao K, et al. Abdominal complication related to type of repair of congenital diaphragmatic hernia. Journal of surgical research. 2007;140(2):234-236. [Medline].

  30. Dariel A, Roze JC, Piloquet H, Podevin G. French CDH study group. Impact of prophylactic fundoplication on survival without growth disorder in left congenital diaphragmatic hernia requiring a patch repair. Journal of Pediatrics. 2011;157:688-690.

  31. Kawahara H, Okuyama H, Nose K, Nakai H, Yoneda A, Kubota A. Physiological and clinical characteristics of gastroesophageal reflux after congenital diaphragmatic hernia repair. J Pediatr Surg. Dec 2010;45(12):2346-50. [Medline].

  32. Frisk V, Jakobson L, Unger S, Trachsel D, O'Brien K. Long-term neurodevelopmental outcomes of congenital diaphragmatic hernia survivors not treated with extracorporeal membrane oxygenation. Journal of Pediatric Surgery. 2011;46:1309-1318.

  33. Lally KP, Bagolan P, Hosie S, et al. Corticosteroids for fetuses with congenital diaphragmatic hernia: can we show benefit?. Journal of Pediatric Surgery. 2006;41(4):668-674. [Medline].

  34. Beurskens LW, Tibboel D, Lindemans J, Duvekot JJ, Cohen-Overbeek TE, Veenma DC. Retinol status of newborn infants is associated with congenital diaphragmatic hernia. Pediatrics. Oct 2010;126(4):712-20. [Medline].

  35. Major D, Cadenas M, Fournier L, Leclerc S, Lefebvre M, Cloutier R. Retinol status of newborn infants with congenital diaphragmatic hernia. Pediatr Surg Int. Oct 1998;13(8):547-9. [Medline].

  36. Lewis NA, Holm BA, Rossman J, Swartz D, Glick PL. Late administration of antenatal vitamin A promotes pulmonary structural maturation and improves ventilation in the lamb model of congenital diaphragmatic hernia. Pediatr Surg Int. Feb 2011;27(2):119-24. [Medline].

  37. Lewis NA, Holm BA, Swartz D, Sokolowski J, Rossman J, Glick PL. Antenatal vitamin A decreases ventilation-induced lung injury in the lamb model of congenital diaphragmatic hernia. Asian J Surg. Jul 2006;29(3):193-7. [Medline].

  38. Babiuk RP, Thébaud B, Greer JJ. Reductions in the incidence of nitrofen-induced diaphragmatic hernia by vitamin A and retinoic acid. Am J Physiol Lung Cell Mol Physiol. May 2004;286(5):L970-3. [Medline].

  39. Bohn DJ, Pearl R, Irish MS, Glick PL. Postnatal management of congenital diaphragmatic hernia. Clin Perinatol. Dec 1996;23(4):843-72. [Medline].

  40. Karamanoukian HL, Glick PL, Wilcox DT, et al. Pathophysiology of congenital diaphragmatic hernia. VIII: Inhaled nitric oxide requires exogenous surfactant therapy in the lamb model of congenital diaphragmatic hernia. J Pediatr Surg. Jan 1995;30(1):1-4. [Medline].

  41. Sreenan C, Etches P, Osiovich H. The western Canadian experience with congenital diaphragmatic hernia: perinatal factors predictive of extracorporeal membrane oxygenation and death. Pediatr Surg Int. Mar 2001;17(2-3):196-200. [Medline].

  42. Ting A, Glick PL, Wilcox DT, Holm BA, Gil J, DiMaio M. Alveolar vascularization of the lung in a lamb model of congenital diaphragmatic hernia. Am J Respir Crit Care Med. Jan 1998;157(1):31-4. [Medline].

  43. Wung JT, Sahni R, Moffitt ST, Lipsitz E, Stolar CJ. Congenital diaphragmatic hernia: survival treated with very delayed surgery, spontaneous respiration, and no chest tube. J Pediatr Surg. Mar 1995;30(3):406-9. [Medline].

Previous
Next
 
Graph illustrating the concept of the hidden mortality of congenital diaphragmatic hernia. Image courtesy of Michael Harrison, MD.
Photograph of a one-day-old infant with congenital diaphragmatic hernia. Note the scaphoid abdomen. This occurs if significant visceral herniation into the chest is present.
Radiograph of an infant with congenital diaphragmatic hernia. Note shift of the mediastinum to the right, air-filled bowel in the left chest, and the position of the orogastric tube.
Newborn baby with congenital diaphragmatic hernia on venoarterial extracorporeal membrane oxygenation (ECMO). Note the arterial and venous cannulas connected to the bedside cardiovascular bypass machine.
Diagram illustrating the sheep model of PLUG, the trachea used for the fetal management of congenital diaphragmatic hernia. Image courtesy of Michael Harrison, MD.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.