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Congenital diaphragmatic hernia

  • Fetal imaging
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Abstract

Congenital diaphragmatic hernia (CDH) is a potentially severe anomaly that should be referred to a fetal care center with expertise in multidisciplinary evaluation and management. The pediatric radiologist plays an important role in the evaluation of CDH, both in terms of anatomical description of the anomaly and in providing detailed prognostic information for use in caring for the fetus and pregnant mother as well as planning for delivery and postnatal care. This article reviews the types of hernias, including distinguishing features and imaging clues. The most common methods of predicting severity are covered, and current fetal and postnatal therapies are explained. The author of this paper provides a handy reference for pediatric radiologists presented with a case of CDH as part of their daily practice.

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References

  1. Brownlee EM, Howatson AG, Davis CF et al (2009) The hidden mortality of congenital diaphragmatic hernia: a 20-year review. J Pediatr Surg 44:317–320

    Article  CAS  PubMed  Google Scholar 

  2. Cordier AG, Russo FM, Deprest J, Benachi A (2019) Prenatal diagnosis, imaging, and prognosis in congenital diaphragmatic hernia. Semin Perinatol 44:51163

    Article  PubMed  Google Scholar 

  3. Belfort MA, Olutoye OO, Cass DL et al (2017) Feasibility and outcomes of fetoscopic tracheal occlusion for severe left diaphragmatic hernia. Obstet Gynecol 129:20–29

    Article  PubMed  Google Scholar 

  4. Chiu PP, Langer JC (2009) Surgical conditions of the diaphragm: posterior diaphragmatic hernias in infants. Thorac Surg Clin 19:451–461

    Article  PubMed  Google Scholar 

  5. Metkus AP, Filly RA, Stringer MD et al (1996) Sonographic predictors of survival in fetal diaphragmatic hernia. J Pediatr Surg 31:148–151

    Article  CAS  PubMed  Google Scholar 

  6. Peralta CF, Cavoretto P, Csapo B et al (2005) Assessment of lung area in normal fetuses at 12–32 weeks. Ultrasound Obstet Gynecol 26:718–724

    Article  CAS  PubMed  Google Scholar 

  7. Abbasi N, Ryan G, Johnson A et al (2019) Reproducibility of fetal lung-to-head ratio in left diaphragmatic hernia across the North American Fetal Therapy Network (NAFTNet). Prenat Diagn 39:188–194

  8. Jani JC, Cannie M, Peralta CF et al (2007) Lung volumes in fetuses with congenital diaphragmatic hernia: comparison of 3D US and MR imaging assessments. Radiology 244:575–582

    Article  PubMed  Google Scholar 

  9. Jani J, Cannie M, Done E et al (2007) Relationship between lung area at ultrasound examination and lung volume assessment with magnetic resonance imaging in isolated congenital diaphragmatic hernia. Ultrasound Obstet Gynecol 30:855–860

    Article  CAS  PubMed  Google Scholar 

  10. Strizek B, Cos Sanchez T, Khalife J et al (2015) Impact of operator experience on the variability of fetal lung volume estimation by 3D-ultrasound (VOCAL) and magnetic resonance imaging in fetuses with congenital diaphragmatic hernia. J Matern Fetal Neonatal Med 28:858–864

    Article  CAS  PubMed  Google Scholar 

  11. Mehollin-Ray AR, Cassady CI, Cass DL et al (2012) Fetal MR imaging of congenital diaphragmatic hernia. Radiographics 32:1067–1084

    Article  PubMed  Google Scholar 

  12. Busing KA, Kilian AK, Schaible T et al (2008) Reliability and validity of MR image lung volume measurement in fetuses with congenital diaphragmatic hernia and in vitro lung models. Radiology 246:553–561

    Article  PubMed  Google Scholar 

  13. Cheng PM, Sayre JW (2009) Logistic regression analysis of MR fetal lung volume. Radiology 250:957

    Article  PubMed  Google Scholar 

  14. Meyers ML, Garcia JR, Blough KL et al (2018) Fetal lung volumes by MRI: normal weekly values from 18 through 38 weeks’ gestation. AJR Am J Roentgenol 211:432–438

    Article  PubMed  Google Scholar 

  15. Rypens F, Metens T, Rocourt N et al (2001) Fetal lung volume: estimation at MR imaging — initial results. Radiology 219:236–241

    Article  CAS  PubMed  Google Scholar 

  16. Barnewolt CE, Kunisaki SM, Fauza DO et al (2007) Percent predicted lung volumes as measured on fetal magnetic resonance imaging: a useful biometric parameter for risk stratification in congenital diaphragmatic hernia. J Pediatr Surg 42:193–197

    Article  PubMed  Google Scholar 

  17. 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 241:847–853

    Article  PubMed  Google Scholar 

  18. Cannie MM, Jani JC, Van Kerkhove F et al (2008) Fetal body volume at MR imaging to quantify total fetal lung volume: normal ranges. Radiology 247:197–203

    Article  PubMed  Google Scholar 

  19. Nawapun K, Sandaite I, Dekoninck P et al (2014) Comparison of matching by body volume or gestational age for calculation of observed to expected total lung volume in fetuses with isolated congenital diaphragmatic hernia. Ultrasound Obstet Gynecol 44:655–660

    Article  CAS  PubMed  Google Scholar 

  20. Jani J, Nicolaides KH, Keller RL et al (2007) Observed to expected lung area to head circumference ratio in the prediction of survival in fetuses with isolated diaphragmatic hernia. Ultrasound Obstet Gynecol 30:67–71

    Article  CAS  PubMed  Google Scholar 

  21. Cannie M, Jani J, Meersschaert J et al (2008) 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 32:633–639

    Article  CAS  PubMed  Google Scholar 

  22. Ogawa R, Kido T, Nakamura M et al (2018) Magnetic resonance assessment of fetal lung maturity: comparison between signal intensity and volume measurement. Jpn J Radiol 36:444–449

    Article  PubMed  Google Scholar 

  23. Matsushita M, Ishii K, Tamura M et al (2008) Perinatal magnetic resonance fetal lung volumetry and fetal lung-to-liver signal intensity ratio for predicting short outcome in isolated congenital diaphragmatic hernia and cystic adenomatoid malformation of the lung. J Obstet Gynaecol Res 34:162–167

    Article  PubMed  Google Scholar 

  24. Keller TM, Rake A, Michel SC et al (2004) MR assessment of fetal lung development using lung volumes and signal intensities. Eur Radiol 14:984–989

    Article  PubMed  Google Scholar 

  25. Lee W, Krisko A, Shetty A et al (2009) Non-invasive fetal lung assessment using diffusion-weighted imaging. Ultrasound Obstet Gynecol 34:673–677

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  26. Vuletin JF, Lim FY, Cnota J et al (2010) Prenatal pulmonary hypertension index: novel prenatal predictor of severe postnatal pulmonary artery hypertension in antenatally diagnosed congenital diaphragmatic hernia. J Pediatr Surg 45:703–708

    Article  PubMed  Google Scholar 

  27. Didier RA, DeBari SE, Oliver ER et al (2019) Secondary imaging findings aid in prenatal diagnosis and characterization of congenital diaphragmatic hernia: role of an abnormal orientation of vascular structures and gallbladder position. J Ultrasound Med 38:1449–1456

    Article  PubMed  Google Scholar 

  28. Albanese CT, Lopoo J, Goldstein RB et al (1998) Fetal liver position and perinatal outcome for congenital diaphragmatic hernia. Prenat Diagn 18:1138–1142

    Article  CAS  PubMed  Google Scholar 

  29. Worley KC, Dashe JS, Barber RG et al (2009) Fetal magnetic resonance imaging in isolated diaphragmatic hernia: volume of herniated liver and neonatal outcome. Am J Obstet Gynecol 200:318.e311–318.e316

    Google Scholar 

  30. Cannie M, Jani J, Chaffiotte C et al (2008) Quantification of intrathoracic liver herniation by magnetic resonance imaging and prediction of postnatal survival in fetuses with congenital diaphragmatic hernia. Ultrasound Obstet Gynecol 32:627–632

    Article  CAS  PubMed  Google Scholar 

  31. Zamora IJ, Olutoye OO, Cass DL et al (2014) Prenatal MRI fetal lung volumes and percent liver herniation predict pulmonary morbidity in congenital diaphragmatic hernia (CDH). J Pediatr Surg 49:688–693

    Article  PubMed  Google Scholar 

  32. Akinkuotu AC, Cruz SM, Cass DL et al (2015) Revisiting outcomes of right congenital diaphragmatic hernia. J Surg Res 198:413–417

    Article  PubMed  Google Scholar 

  33. Zamora IJ, Cass DL, Lee TC et al (2013) The presence of a hernia sac in congenital diaphragmatic hernia is associated with better fetal lung growth and outcomes. J Pediatr Surg 48:1165–1171

    Article  PubMed  Google Scholar 

  34. Levesque M, Derraugh G, Schantz D et al (2019) The presence of a hernia sac in isolated congenital diaphragmatic hernia is associated with less disease severity: a retrospective cohort study. J Pediatr Surg 54:899–902

    Article  PubMed  Google Scholar 

  35. Zamora IJ, Mehollin-Ray AR, Sheikh F et al (2015) Predictive value of MRI findings for the identification of a hernia sac in fetuses with congenital diaphragmatic hernia. AJR Am J Roentgenol 205:1121–1125

    Article  PubMed  Google Scholar 

  36. Oliver ER, DeBari SE, Adams SE et al (2019) Congenital diaphragmatic hernia sacs: prenatal imaging and associated postnatal outcomes. Pediatr Radiol 49:593–599

    Article  PubMed  Google Scholar 

  37. Salmanian B, Shamshirsaz AA, Cass DL et al (2014) Fetal cardiac tamponade in a case of right-side congenital diaphragmatic hernia. Obstet Gynecol 123:447–450

    Article  PubMed  Google Scholar 

  38. Ruano R, Javadian P, Kailin JA et al (2015) Congenital heart anomaly in newborns with congenital diaphragmatic hernia: a single-center experience. Ultrasound Obstet Gynecol 45:683–688

    Article  CAS  PubMed  Google Scholar 

  39. Graziano JN (2005) Cardiac anomalies in patients with congenital diaphragmatic hernia and their prognosis: a report from the congenital diaphragmatic hernia study group. J Pediatr Surg 40:1045–1049

    Article  PubMed  Google Scholar 

  40. Kailin JA, Dhillon GS, Maskatia SA et al (2017) Fetal left-sided cardiac structural dimensions in left-sided congenital diaphragmatic hernia — association with severity and impact on postnatal outcomes. Prenat Diagn 37:502–509

    Article  CAS  PubMed  Google Scholar 

  41. Witters I, Legius E, Moerman P et al (2001) Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia. Am J Med Genet 103:278–282

  42. Fauza DO, Wilson JM (1994) Congenital diaphragmatic hernia and associated anomalies: their incidence, identification, and impact on prognosis. J Pediatr Surg 29:1113–1117

    Article  CAS  PubMed  Google Scholar 

  43. Akinkuotu AC, Cruz SM, Cass DL et al (2016) An evaluation of the role of concomitant anomalies on the outcomes of fetuses with congenital diaphragmatic hernia. J Pediatr Surg 51:714–717

    Article  PubMed  Google Scholar 

  44. Cruz SM, Akinkuotu AC, Cass DL et al (2016) Space occupying lesions in the presence of congenital diaphragmatic hernia. J Pediatr Surg 51:710–713

    Article  PubMed  Google Scholar 

  45. Harrison MR, Sydorak RM, Farrell JA et al (2003) Fetoscopic temporary tracheal occlusion for congenital diaphragmatic hernia: prelude to a randomized, controlled trial. J Pediatr Surg 38:1012–1020

    Article  PubMed  Google Scholar 

  46. Deprest J, Nicolaides K, Done E et al (2011) Technical aspects of fetal endoscopic tracheal occlusion for congenital diaphragmatic hernia. J Pediatr Surg 46:22–32

    Article  PubMed  Google Scholar 

  47. Deprest J, Brady P, Nicolaides K et al (2014) Prenatal management of the fetus with isolated congenital diaphragmatic hernia in the era of the TOTAL trial. Semin Fetal Neonatal Med 19:338–348

    Article  PubMed  Google Scholar 

  48. Dekoninck P, Gratacos E, Van Mieghem T et al (2011) Results of fetal endoscopic tracheal occlusion for congenital diaphragmatic hernia and the set up of the randomized controlled TOTAL trial. Early Hum Dev 87:619–624

    Article  PubMed  Google Scholar 

  49. Ruano R, Ali RA, Patel P et al (2014) Fetal endoscopic tracheal occlusion for congenital diaphragmatic hernia: indications, outcomes, and future directions. Obstet Gynecol Surv 69:147–158

    Article  PubMed  Google Scholar 

  50. Van der Veeken L, Russo FM, De Catte L et al (2018) Fetoscopic endoluminal tracheal occlusion and reestablishment of fetal airways for congenital diaphragmatic hernia. Gynecol Surg 15:9

    Article  PubMed  PubMed Central  Google Scholar 

  51. Jimenez JA, Eixarch E, DeKoninck P et al (2017) Balloon removal after fetoscopic endoluminal tracheal occlusion for congenital diaphragmatic hernia. Am J Obstet Gynecol 217:78.e71–78.e11

    Article  Google Scholar 

  52. Ali K, Grigoratos D, Cornelius V et al (2013) Outcome of CDH infants following fetoscopic tracheal occlusion — influence of premature delivery. J Pediatr Surg 48:1831–1836

    Article  PubMed  Google Scholar 

  53. Sananes N, Rodo C, Peiro JL et al (2016) Prematurity and fetal lung response after tracheal occlusion in fetuses with severe congenital diaphragmatic hernia. J Matern Fetal Neonatal Med 29:3030–3034

    Article  PubMed  Google Scholar 

  54. Morandi A, Macchini F, Ophorst M et al (2019) Tracheal diameter and respiratory outcome in infants with congenital diaphragmatic hernia treated by fetal endoscopic tracheal occlusion. Fetal Diagn Ther 46:296–305

    Article  PubMed  Google Scholar 

  55. Zani A, Sellars M, Allen P et al (2014) Tracheomegaly in infants with severe congenital diaphragmatic hernia treated with fetal endoluminal tracheal occlusion. J Pediatr 164:1311–1315

    Article  PubMed  Google Scholar 

  56. Herich K, Schaible T, Reinhard J et al (2019) iNO therapy in patients with congenital diaphragmatic hernia — discrepancy between widespread use and therapeutic effects. Klin Padiatr 231:320–325

    Article  PubMed  Google Scholar 

  57. Snoek KG, Reiss IK, Greenough A et al (2016) Standardized postnatal management of infants with congenital diaphragmatic hernia in Europe: the CDH EURO consortium consensus — 2015 update. Neonatology 110:66–74

    Article  PubMed  Google Scholar 

  58. Gien J, Kinsella JP (2016) Management of pulmonary hypertension in infants with congenital diaphragmatic hernia. J Perinatol 36:S28–S31

    Article  PubMed  Google Scholar 

  59. Debus A, Hagelstein C, Kilian AK et al (2013) Fetal lung volume in congenital diaphragmatic hernia: association of prenatal MR imaging findings with postnatal chronic lung disease. Radiology 266:887–895

    Article  PubMed  Google Scholar 

  60. Schaible T, Busing KA, Felix JF et al (2012) Prediction of chronic lung disease, survival and need for ECMO therapy in infants with congenital diaphragmatic hernia: additional value of fetal MRI measurements? Eur J Radiol 81:1076–1082

    Article  CAS  PubMed  Google Scholar 

  61. Walleyo A, Debus A, Kehl S et al (2013) Periodic MRI lung volume assessment in fetuses with congenital diaphragmatic hernia: prediction of survival, need for ECMO, and development of chronic lung disease. AJR Am J Roentgenol 201:419–426

    Article  PubMed  Google Scholar 

  62. Spaggiari E, Stirnemann JJ, Sonigo P et al (2015) Prenatal prediction of pulmonary arterial hypertension in congenital diaphragmatic hernia. Ultrasound Obstet Gynecol 45:572–577

    Article  CAS  PubMed  Google Scholar 

  63. Verla MA, Style CC, Mehollin-Ray AR et al (2020) Prenatal imaging features and postnatal factors associated with gastrointestinal morbidity in congenital diaphragmatic hernia. Fetal Diagn Ther 47:252–250

    Article  PubMed  Google Scholar 

  64. Grover TR, Rintoul NE, Hedrick HL (2018) Extracorporeal membrane oxygenation in infants with congenital diaphragmatic hernia. Semin Perinatol 42:96–103

    Article  PubMed  Google Scholar 

  65. Jancelewicz T, Brindle ME, Harting MT et al (2018) Extracorporeal membrane oxygenation (ECMO) risk stratification in newborns with congenital diaphragmatic hernia (CDH). J Pediatr Surg 53:1890–1895

    Article  PubMed  Google Scholar 

  66. Rafat N, Schaible T (2019) Extracorporeal membrane oxygenation in congenital diaphragmatic hernia. Front Pediatr 7:336

    Article  PubMed  PubMed Central  Google Scholar 

  67. Steen EH, Lee TC, Vogel AM et al (2019) Congenital diaphragmatic hernia repair in patients on extracorporeal membrane oxygenation: how early can we repair? J Pediatr Surg 54:50–54

    Article  PubMed  Google Scholar 

  68. Cassady CI, Mehollin-Ray AR, Olutoye OO et al (2011) Jugular vein hypoplasia can preclude extracorporeal membrane oxygenation cannulation in the neonate with congenital diaphragmatic hernia: potential identification of the neonate at risk by fetal magnetic resonance imaging. Fetal Diagn Ther 30:225–228

    Article  PubMed  Google Scholar 

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  1. E. B. Singleton Department of Radiology, Texas Children’s Hospital, Baylor College of Medicine, 6701 Fannin St., Suite 470, Houston, TX, 77030, USA

    Amy R. Mehollin-Ray

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Correspondence to Amy R. Mehollin-Ray.

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Mehollin-Ray, A.R. Congenital diaphragmatic hernia. Pediatr Radiol 50, 1855–1871 (2020). https://doi.org/10.1007/s00247-020-04718-w

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