Fetal MRI pp 343-360 | Cite as

Treatment of Congenital Diaphragmatic Hernia

  • Jan Deprest
  • Roland Devlieger
  • Maissa Rayyan
  • Chris Vanhole
  • Najima El handouni
  • Filip Claus
  • Steven Dymarkowski
  • Marc Van de Velde
  • Kypros Nicolaides
  • Eduardo Gratacos
Part of the Medical Radiology book series (MEDRAD)


Congenital diaphragmatic hernia (CDH) can be associated with genetic or structural anomalies that render the prognosis overall poor. In isolated cases, survival is dependent on the degree of lung hypoplasia and potentially also liver position. Isolated CDH remains today, fatal in around 30% of prenatally diagnosed cases. Cases should be referred in utero to tertiary care centers familiar with this condition for comprehensive assessment, prediction of individual outcome as well as timed delivery. Individual prognosis can be estimated based on lung size measurement as well as documentation of the degree of liver herniation into the thorax. The use of imaging to document pulmonary vascularization is promising, but is at present still under investigation. Based on the predicted survival rate, parents can be counseled about their options. In those with a poor prognosis, termination of pregnancy can be considered. Antenatal intervention, aiming to stimulate lung growth, has become an alternative for these cases. Lung growth is triggered by temporary fetal endoscopic tracheal occlusion (FETO). Growing experience has demonstrated the feasibility and safety of the technique, and survival has increased from around 15% to over 50% in this group. In Europe a trial has now started, documenting the place of FETO in moderate cases (predicted survival rate 50%), and soon also in severe cases. It is hypothesized that prenatal intervention might decrease oxygen dependency in survivors (moderate), or increase survival (severe).


Congenital Diaphragmatic Hernia Congenital Diaphragmatic Hernia Pulmonary Hypoplasia High Frequency Oscillatory Ventilation Lung Growth 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



The European Commission supports our work in its sixth Framework (EuroSTEC; LSHC-CT-2006-037409). The Flemish Community of Belgium supports the clinical trial (IWT/070715). J.D. is the recipient of a “Fundamental Clinical Researcher” grant of the Fonds Wetenschappelijk Onderzoek-Vlaanderen ( The collaborating centers from the antenatal CDH registry group and our colleagues from the FETO-task force or referring doctors are acknowledged for their contribution to the clinical program.


  1. Boloker J, Bateman D, Wung J, Stolar C. Congenital diaphragmatic hernia in 120 infants treated consecutively with permissive hypercapnea/spontaneous respiration/elective repair. J Pediatr Surg. 2002;37(3):357–366PubMedCrossRefGoogle Scholar
  2. Broth RE, Wood DC, Rasanen J, Sabogal JC, Komwilaisak R, Weiner S, Berghella V. Prediction of lethal pulmonary hypoplasia: the hyperoxygenation test for pulmonary artery reactivity, Am J Obstet Gynecol 2002; 187 (4): 940–945PubMedCrossRefGoogle Scholar
  3. Cannie M, Jani JC, De Keyzer F et al (2006) Fetal body volume: use at MR imaging to quantify relative lung volume in fetuses suspected of having pulmonary hypoplasia. Radiology 241(3):847–853PubMedCrossRefGoogle Scholar
  4. Cannie M, Jani J, Chaffiotte C, Vaast P, Deruelle P, Houfflin-Debarge V, Dymarkowski S, Deprest J (2008a) Quantification of intrathoracic liver herniation by magnetic resonance imaging and prediction of postnatal survival in fetuses with congenital diaphragmatic hernia. Ultrasound Obstet Gynecol 32(5):627–632PubMedCrossRefGoogle Scholar
  5. Cannie M, Jani J, Meersschaert J, Allegaert K, Done’ E, Marchal G, Deprest J, Dymarkowski S (2008b) Prenatal prediction of survival in isolated diaphragmatic hernia using observed to expected total fetal lung volume determined by magnetic resonance imaging based on either gestational age or fetal body volume. Ultrasound Obstet Gynecol 32(5):633–639PubMedCrossRefGoogle Scholar
  6. Castro M et al (2008) Strategic plan for pediatric respiratory diseases research: An NHLBI Working Group Report. Pediatr Pulmonol 2008:1–12Google Scholar
  7. Coakley FV, Lopoo JB, Lu Y et al (2000) Normal and hypoplastic fetal lungs: volumetric assessment with prenatal single-shot rapid acquisition with relaxation enhancement MR imaging. Radiology 216(1):107–111PubMedGoogle Scholar
  8. Datin-Dorriere V, Rouzies S, Taupin P et al (2008) Prenatal prognosis in isolated congenital diaphragmatic hernia. Am J Obstet Gynecol 198(1):80.e1–80.e5CrossRefGoogle Scholar
  9. Deprest J, Gratacos E, Nicolaides KH (2004) Fetoscopic tracheal occlusion (FETO) for severe congenital diaphragmatic hernia: evolution of a technique and preliminary results. Ultrasound Obstet Gynecol 24(2):121–126PubMedCrossRefGoogle Scholar
  10. Deprest J, Jani J, Gratacos E et al (2005) Fetal intervention for congenital diaphragmatic hernia: the European experience. Semin Perinatol 29:94–103PubMedCrossRefGoogle Scholar
  11. Deprest J, Jani J, Gratacos E, Nicolaides K, Nelson S (2006a) Reply to a letter. J Pediatr Surg 41(7):1345–1346CrossRefGoogle Scholar
  12. Deprest J, Jani J, Lewi L, Ochsenbein-Kölble N, Cannie M, Doné E, Roubliova X, Van Mieghem T, Debeer A, Debuck F, Sbragia L, Toelen J, Devlieger R, Lewi P, Van de Velde M (2006b) Fetoscopic surgery: encouraged by clinical experience and boosted by instrument innovation. Semin Fetal Neonatal Med 11(6):398–412PubMedCrossRefGoogle Scholar
  13. Deprest J, Flemmer A, Gratacos E, Nicolaides K (2009a) Ante­natal prediction of lung volume and in-utero treatment by fetal endoscopic tracheal occlusion in the severe isolated congenital diaphragmatic hernia. Semin Fetal Neonatal Med 14:8–13PubMedCrossRefGoogle Scholar
  14. Deprest JA, Hyett JA, Flake AW et al (2009b) Current controversies in prenatal diagnosis 4: should fetal surgery be done in all cases of severe diaphragmatic hernia. Prenat Diagn 29:15–19PubMedCrossRefGoogle Scholar
  15. DiFiore JW, Fauza DO, Slavin R, Peters CA, Fackler JC, Wilson JM (1994) Experimental fetal tracheal ligation reverses the structural and physiological effects of pulmonary hypoplasia in congenital diaphragmatic hernia. J Pediatr Surg 29(2):248–256, discussion 56–57PubMedCrossRefGoogle Scholar
  16. Done E et al (2008) Prenatal diagnosis, prediction of outcome and in utero therapy of isolated congenital diaphragmatic hernia. Prenat Diagn 28:581–591PubMedCrossRefGoogle Scholar
  17. Done E, Allegaert K, Lewi P, Jani J, Gucciardo L, Van Mieghem T, Gratacos E, Devlieger R, Van Schoubroeck D, Deprest J. Maternal hyperoxygenation test in fetuses treated for severe isolated congenital diaphragmatic hernia. Ultrasound Obstet Gynecol 2010 (in press)Google Scholar
  18. Flageole H, Evrard VA, Piedboeuf B, Laberge JM, Lerut TE, Deprest JA (1998) The plug-unplug sequence: an important step to achieve type II pneumocyte maturation in the fetal lamb model. J Pediatr Surg 33(2):299–303PubMedCrossRefGoogle Scholar
  19. Flake AW, Crombleholme TM, Johnson MP, Howell LJ, Adzick NS (2000) Treatment of severe congenital diaphragmatic hernia by fetal tracheal occlusion: clinical experience with fifteen cases. Am J Obstet Gynecol 183(5):1059–1066PubMedCrossRefGoogle Scholar
  20. Gallot D, Boda C, Ughetto S, et al. 2007. Prenatal detection and outcome of congenital diaphragmatic hernia: a French registry-based study. Ultrasound Obstet Gynecol 29(3): 276–83PubMedCrossRefGoogle Scholar
  21. Garne E, Haeusler M, Barisic I, Gjergja R, Stoll C, Clementi M, Euroscan Study Group (2002) Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions. Ultrasound Obstet Gynecol 19:329–333PubMedCrossRefGoogle Scholar
  22. Gucciardo L, Deprest J, Done E et al (2008) Prediction of outcome in isolated congenital diaphragmatic hernia and its consequences for fetal therapy. Best Pract Res Clin Obstet Gynaecol 22(1):123–138PubMedCrossRefGoogle Scholar
  23. Harrison MR, Adzick NS, Flake AW et al (1993) Correction of congenital diaphragmatic hernia in utero: VI. Hard-earned lessons. J Pediatr Surg 28(10):1411–1417, discussion 17–18PubMedCrossRefGoogle Scholar
  24. Harrison MR, Keller RL, Hawgood SB et al (2003a) A randomized trial of fetal endoscopic tracheal occlusion for severe fetal congenital diaphragmatic hernia. N Engl J Med 349(20):1916–1924PubMedCrossRefGoogle Scholar
  25. Harrison MR, Sydorak RM, Farrell JA, Kitterman JA, Filly RA, Albanese CT (2003b) Fetoscopic temporary tracheal occlusion for congenital diaphragmatic hernia: prelude to a randomized, controlled trial. J Pediatr Surg 38(7):1012–1020PubMedCrossRefGoogle Scholar
  26. Hedrick HL, Danzer E, Merchant A et al (2007) Liver position and lung-to-head ratio for prediction of extracorporeal membrane oxygenation and survival in isolated left congenital diaphragmatic hernia. Am J Obstet Gynecol 197(4):422.e1–422.e4CrossRefGoogle Scholar
  27. Jani J, Gratacos E, Greenough A, et al. 2005. Percutaneous fetal endoscopic tracheal occlusion (FETO) for severe left-sided congenital diaphragmatic hernia. Clin Obstet Gynecol 48(4):910–922PubMedCrossRefGoogle Scholar
  28. Jani J, Keller RL, Benachi A et al (2006) Prenatal prediction of survival in isolated left-sided diaphragmatic hernia. Ultrasound Obstet Gynecol 27(1):18–22PubMedCrossRefGoogle Scholar
  29. Jani JC, Cannie M, Peralta CF, Deprest JA, Nicolaides KH, Dymarkowski S (2007a) Lung volumes in fetuses with congenital diaphragmatic hernia: comparison of 3D US and MR imaging assessments. Radiology 244(2):575–582PubMedCrossRefGoogle Scholar
  30. Jani J, Nicolaides KH, Keller RL et al (2007b) Observed to expected lung area to head circumference ratio in the prediction of survival in fetuses with isolated diaphragmatic hernia. Ultrasound Obstet Gynecol 30(1):67–71PubMedCrossRefGoogle Scholar
  31. Jani J, Nicolaides K, Gratacos E et al (2007c) Short term neonatal morbidity in severe left-sided congenital diaphragmatic hernia treated by tracheal occlusion before 30 weeks. Am J Obstet Gynecol 197(6):S162CrossRefGoogle Scholar
  32. Jani J, Nicolaides K, Gratacos E, et al Allegaert K, Greenough A, Moreno O, Deprest J (2007d) Short term neonatal morbidity in severe left-sided congenital diaphragmatic hernia treated by tracheal occlusion before 30 weeks. Am J Obstet Gynecol; 197(6):S162CrossRefGoogle Scholar
  33. Jani J, Cannie M, Sonigo P, Robert Y, Moreno O, Benachi A, Vaast P, Gratacos E, Nicolaides KH, Deprest J (2008a) Value of prenatal magnetic resonance imaging in the prediction of postnatal outcome in fetuses with diaphragmatic hernia. Ultrasound Obstet Gynecol 32(6):793–799PubMedCrossRefGoogle Scholar
  34. Jani J, Nicolaides KH, Benachi A et al (2008b) Timing of lung size assessment in the prediction of survival in fetuses with diaphragmatic hernia. Ultrasound Obstet Gynecol 31(1):37–40PubMedCrossRefGoogle Scholar
  35. Jani JC, Benachi A, Nicolaides KH, Allegaert K, Gratacós E, Mazkereth R, Matis J, Tibboel D, Van Heijst A, Storme L, Rousseau V, Greenough A, Deprest JA, the Antenatal CDH Registry group (2009) Prenatal prediction of neonatal morbidity in survivors with congenital diaphragmatic hernia: a multicenter study. Ultrasound Obstet Gynecol 33:64–69PubMedCrossRefGoogle Scholar
  36. Javid P, Jaksic T, Skarsgard E, Lee S (2004) Survival rate in congenital diaphragmatic hernia: the experience of the Canadian Neonatal Network. J Pediatr Surg 39:657–660PubMedCrossRefGoogle Scholar
  37. Keller R, Hawgood S, Neuhaus J et al (2004) Infant pulmonary function in a randomized trial of fetal tracheal occlusion for severe congenital diaphragmatic hernia. Pediatr Res 56:818–825PubMedCrossRefGoogle Scholar
  38. Khan PA, Cloutier M, Piedboeuf B (2007) Tracheal occlusion: a review of obstructing fetal lungs to make them grow and mature. Am J Med Genet C Semin Med Genet 145C(2):125–138PubMedCrossRefGoogle Scholar
  39. Khan A, Lally K. The role of extracorporeal membrane oxygenation in the management of infants with congenital diaphragmatic hernia. Semin Perinatol. 2005; 29(2):118–22PubMedCrossRefGoogle Scholar
  40. Kinsella J, Parker T, Dunbar I, Abman S. Noninvasive delivery of inhaled nitric oxide therapy for late pulmonary hypertension in newborn infants with congenital diaphragmatic hernia. J Pediatr. 2003; 142(4):397–401PubMedCrossRefGoogle Scholar
  41. Kinsella J, Dunbar I, Abman S. Pulmonary vasodilator therapy in congenital diaphragmatic hernia: acute, late, and chronic pulmonary hypertension. Semin Perinatol. 2005; 29(2):123–8PubMedCrossRefGoogle Scholar
  42. Klaritsch P, Albert K, Van Mieghem T, Gucciardo L, Done’ E, Bynens B, Deprest J (2009) Instrumental requirements for minimal invasive fetal surgery. BJOG 116(2):188–197PubMedCrossRefGoogle Scholar
  43. Metkus AP, Filly RA, Stringer MD, Harrison MR, Adzick NS (1996) Sonographic predictors of survival in fetal diaphragmatic hernia. J Pediatr Surg 31(1):148–151, discussion 151–152PubMedCrossRefGoogle Scholar
  44. Moreno-Alvarez O, Hernandez-Andrade E, Oros D, Jani J, Deprest J, Gratacos E (2008) Association between intrapulmonary arterial Doppler parameters and degree of lung growth as measured by the lung-to-head ratio in fetuses with congenital diaphragmatic hernia. Ultrasound Obstet Gynecol 31:164–170PubMedCrossRefGoogle Scholar
  45. Nelson SC, Cameron AD, Deprest J (2006) Fetoscopic surgery for in utero management of congenital diaphragmatic hernia. Fet Mat Medicine Rev 17(1):69–104CrossRefGoogle Scholar
  46. Peralta CF, Cavoretto P, Csapo B, Vandecruys H, Nicolaides KH (2005) Assessment of lung area in normal fetuses at 12-32 weeks. Ultrasound Obstet Gynecol 26(7):718–724PubMedCrossRefGoogle Scholar
  47. Peralta CF, Jani JC, Van Schoubroeck D, Nicolaides KH, Deprest JA (2008) Fetal lung volume after endoscopic tracheal occlusion in the prediction of postnatal outcome. Am J Obstet Gynecol 198(1):60.e1–60.e5CrossRefGoogle Scholar
  48. Ruano R, Aubry MC, Barthe B, Mitanchez D, Dumez Y, Benachi A. Quantitative analysis of pulmonary vasculature by 3D- power Doppler ultrasonography in isolated congenital diaphragmatic hernia. Am J Ojbstet Gynecol, 2006; 195: 1720–28Google Scholar
  49. Ruano R, de Fatima Yukie Maeda M, Ikeda Niigaki J, Zugaib M. Pulmonary artery diameters in healthy fetuses from 19–40 weeks gestation. J Ultrasound Med 2007; 26:309–316Google Scholar
  50. Sartoris J, Varnholt V, Dahlheim D, Schaible T (2006) CDH in Mannheim – algorithm and results. Monatschr Kinderheilkd 153:717CrossRefGoogle Scholar
  51. Senat MV, Deprest J, Boulvain M, Paupe A, Winer N, Ville Y (2004) Endoscopic laser surgery versus serial amnioreduction for severe twin-to-twin transfusion syndrome. N Engl J Med 351(2):136–144PubMedCrossRefGoogle Scholar
  52. Smith N, Jesudason E, Featherstone N et al. Recent advances in congenital diaphragmatic hernia. Arch Dis Child. 2005; 90(4):426–8PubMedCrossRefGoogle Scholar
  53. Stege G, Fenton A, Jaffray B (2003) Nihilism in the 1990s. The true mortality of CDH. Pediatrics 112: 532–535Google Scholar
  54. Tonks A et al. Congenital malformations of the diaphragm: findings of the West Midlands Congenital Anomaly Register 1995 to 2000. Prenat Diagn. 2004 Aug;24(8):596–604PubMedCrossRefGoogle Scholar
  55. Van de Velde M, Jani J, De Buck F, Deprest J (2006) Fetal pain perception and pain management. Semin Fetal Neonatal Med 11(4):232–236PubMedCrossRefGoogle Scholar
  56. Walsh DS, Hubbard AM, Olutoye OO, Howell LJ, Crombleholme TM, Flake AW, Johnson MP, Adzick NS (2000) Assessment of fetal lung volumes and liver herniation with magnetic resonance imaging in congenital diaphragmatic hernia. Am J Obstet Gynecol 183:1067–1069PubMedCrossRefGoogle Scholar
  57. Williams G, Coakley FV, Qayyum A, Farmer DL, Joe BN, Filly RA (2004) Fetal relative lung volume: quantification by using prenatal MR imaging lung volumetry. Radiology 233(2):457–462PubMedCrossRefGoogle Scholar
  58. Willyard C (2008) Tinkering within the womb: the future of fetal surgery. Nat Med 14(11):1176–1177PubMedCrossRefGoogle Scholar
  59. Yang SH, Nobuhara KK, Keller RL et al (2007) Reliability of the lung-to-head ratio as a predictor of outcome in fetuses with isolated left congenital diaphragmatic hernia at gestation outside 24-26 weeks. Am J Obstet Gynecol 197(1):30.e1–30.e7CrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2010

Authors and Affiliations

  • Jan Deprest
    • 1
  • Roland Devlieger
    • 1
  • Maissa Rayyan
    • 1
  • Chris Vanhole
    • 1
  • Najima El handouni
    • 1
  • Filip Claus
    • 2
  • Steven Dymarkowski
    • 2
  • Marc Van de Velde
    • 3
  • Kypros Nicolaides
    • 4
  • Eduardo Gratacos
    • 5
  1. 1.Division of Woman and ChildUniversity Hospitals LeuvenLeuvenBelgium
  2. 2.Division of Medical Imaging, Unit of RadiologyUniversity Hospitals LeuvenLeuvenBelgium
  3. 3.Division of Critical Care, Unit of AnaesthesiologyUniversity Hospitals LeuvenLeuvenBelgium
  4. 4.King’s College HospitalLondonUK
  5. 5.Dept. Obstetrics & GynaecologyFetal Medicine Unit Hospital ClinicBarcelonaSpain

Personalised recommendations