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Congenital Diaphragmatic Hernia
Paula J. Woodward, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Definitions

            • Herniation of abdominal contents into chest cavity
              • Foramen of Bochdalek (most common type in fetuses)
                • Posterior defect in diaphragm
              • Foramen of Morgagni: Anterior, right sided
              • Uncommonly, herniation through esophageal hiatus or diaphragmatic agenesis

          IMAGING

          • General Features

            • Ultrasonographic Findings

              • MR Findings

                • Imaging Recommendations

                  • Calculations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Image Interpretation Pearls

                                  Selected References

                                  1. Perinatology: Lung-to-head ratio calculator. http://perinatology.com/calculators/LHR.htm. Accessed September 30, 2015
                                  2. Lusk LA et al: Fetal ultrasound markers of severity predict resolution of pulmonary hypertension in congenital diaphragmatic hernia. Am J Obstet Gynecol. 213(2):216.e1-8, 2015
                                  3. Hagelstein C et al: Prenatal MR imaging of congenital diaphragmatic hernias: association of MR fetal lung volume with the need for postnatal prosthetic patch repair. Eur Radiol. 25(1):258-66, 2015
                                  4. Weidner M et al: MRI-based ratio of fetal lung volume to fetal body volume as a new prognostic marker in congenital diaphragmatic hernia. AJR Am J Roentgenol. 202(6):1330-6, 2014
                                  5. Zamora IJ et al: Prenatal MRI fetal lung volumes and percent liver herniation predict pulmonary morbidity in congenital diaphragmatic hernia (CDH). J Pediatr Surg. 49(5):688-93, 2014
                                  6. Debus A et al: Fetal lung volume in congenital diaphragmatic hernia: association of prenatal MR imaging findings with postnatal chronic lung disease. Radiology. 266(3):887-95, 2013
                                  7. Jani JC et al: Lung-to-head ratio: a need to unify the technique. Ultrasound Obstet Gynecol. 39(1):2-6, 2012
                                  8. Mehollin-Ray AR et al: Fetal MR imaging of congenital diaphragmatic hernia. Radiographics. 32(4):1067-84, 2012
                                  9. Alfaraj MA et al: Congenital diaphragmatic hernia: lung-to-head ratio and lung volume for prediction of outcome. Am J Obstet Gynecol. 205(1):43.e1-8, 2011
                                  10. Quintero RA et al: The quantitative lung index (QLI): a gestational age-independent sonographic predictor of fetal lung growth. Am J Obstet Gynecol. 205(6):544.e1-8, 2011
                                  11. Knox E et al: Prenatal detection of pulmonary hypoplasia in fetuses with congenital diaphragmatic hernia: a systematic review and meta-analysis of diagnostic studies. J Matern Fetal Neonatal Med. 23(7):579-88, 2010
                                  12. Yamamoto M et al: Fetal lung assessment in congenital diaphragmatic hernia: evidence for growth. Ultrasound Obstet Gynecol. 35(5):522-4, 2010
                                  13. Cannie M et al: Diffusion-weighted MRI in lungs of normal fetuses and those with congenital diaphragmatic hernia. Ultrasound Obstet Gynecol. 34(6):678-86, 2009
                                  14. Deprest JA et al: Changing perspectives on the perinatal management of isolated congenital diaphragmatic hernia in Europe. Clin Perinatol. 36(2):329-47, ix, 2009
                                  15. Grisaru-Granovsky S et al: Congenital diaphragmatic hernia: review of the literature in reflection of unresolved dilemmas. Acta Paediatr. 98(12):1874-81, 2009
                                  16. Jani JC et al: Prenatal prediction of neonatal morbidity in survivors with congenital diaphragmatic hernia: a multicenter study. Ultrasound Obstet Gynecol. 33(1):64-9, 2009
                                  17. Jani JC et al: Severe diaphragmatic hernia treated by fetal endoscopic tracheal occlusion. Ultrasound Obstet Gynecol. 34(3):304-10, 2009
                                  18. Jelin E et al: Tracheal occlusion for fetal congenital diaphragmatic hernia: the US experience. Clin Perinatol. 36(2):349-61, ix, 2009
                                  19. Sinha CK et al: Congenital diaphragmatic hernia: prognostic indices in the fetal endoluminal tracheal occlusion era. J Pediatr Surg. 44(2):312-6, 2009
                                  20. Büsing KA et al: MR relative fetal lung volume in congenital diaphragmatic hernia: survival and need for extracorporeal membrane oxygenation. Radiology. 248(1):240-6, 2008
                                  21. Datin-Dorriere V et al: Prenatal prognosis in isolated congenital diaphragmatic hernia. Am J Obstet Gynecol. 198(1):80, 2008
                                  22. Doné E et al: Prenatal diagnosis, prediction of outcome and in utero therapy of isolated congenital diaphragmatic hernia. Prenat Diagn. 28(7):581-91, 2008
                                  23. Ruano R et al: Three-dimensional sonographic measurement of contralateral lung volume in fetuses with isolated congenital diaphragmatic hernia. J Clin Ultrasound. 36(5):273-8, 2008
                                  24. Daskalakis G et al: First trimester ultrasound diagnosis of congenital diaphragmatic hernia. J Obstet Gynaecol Res. 33(6):870-2, 2007
                                  25. Jani J et al: 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):67-71, 2007
                                  26. Peralta CF et al: Assessment of lung area in normal fetuses at 12-32 weeks. Ultrasound Obstet Gynecol. 26(7):718-24, 2005
                                  27. Deprest J et al: Fetoscopic tracheal occlusion (FETO) for severe congenital diaphragmatic hernia: evolution of a technique and preliminary results. Ultrasound Obstet Gynecol. 24(2):121-6, 2004
                                  28. Hedrick HL et al: Right congenital diaphragmatic hernia: Prenatal assessment and outcome. J Pediatr Surg. 39(3):319-23; discussion 319-23, 2004
                                  29. Harrison MR et al: A randomized trial of fetal endoscopic tracheal occlusion for severe fetal congenital diaphragmatic hernia. N Engl J Med. 349(20):1916-24, 2003
                                  30. Laudy JA et al: Congenital diaphragmatic hernia: an evaluation of the prognostic value of the lung-to-head ratio and other prenatal parameters. Prenat Diagn. 23(8):634-9, 2003
                                  31. Rypens F et al: Fetal lung volume: estimation at MR imaging-initial results. Radiology. 219(1):236-41, 2001
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Pathology

                                        • Clinical Issues

                                          TERMINOLOGY

                                          • Definitions

                                            • Herniation of abdominal contents into chest cavity
                                              • Foramen of Bochdalek (most common type in fetuses)
                                                • Posterior defect in diaphragm
                                              • Foramen of Morgagni: Anterior, right sided
                                              • Uncommonly, herniation through esophageal hiatus or diaphragmatic agenesis

                                          IMAGING

                                          • General Features

                                            • Ultrasonographic Findings

                                              • MR Findings

                                                • Imaging Recommendations

                                                  • Calculations

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        CLINICAL ISSUES

                                                        • Presentation

                                                          • Demographics

                                                            • Natural History & Prognosis

                                                              • Treatment

                                                                DIAGNOSTIC CHECKLIST

                                                                • Image Interpretation Pearls

                                                                  Selected References

                                                                  1. Perinatology: Lung-to-head ratio calculator. http://perinatology.com/calculators/LHR.htm. Accessed September 30, 2015
                                                                  2. Lusk LA et al: Fetal ultrasound markers of severity predict resolution of pulmonary hypertension in congenital diaphragmatic hernia. Am J Obstet Gynecol. 213(2):216.e1-8, 2015
                                                                  3. Hagelstein C et al: Prenatal MR imaging of congenital diaphragmatic hernias: association of MR fetal lung volume with the need for postnatal prosthetic patch repair. Eur Radiol. 25(1):258-66, 2015
                                                                  4. Weidner M et al: MRI-based ratio of fetal lung volume to fetal body volume as a new prognostic marker in congenital diaphragmatic hernia. AJR Am J Roentgenol. 202(6):1330-6, 2014
                                                                  5. Zamora IJ et al: Prenatal MRI fetal lung volumes and percent liver herniation predict pulmonary morbidity in congenital diaphragmatic hernia (CDH). J Pediatr Surg. 49(5):688-93, 2014
                                                                  6. Debus A et al: Fetal lung volume in congenital diaphragmatic hernia: association of prenatal MR imaging findings with postnatal chronic lung disease. Radiology. 266(3):887-95, 2013
                                                                  7. Jani JC et al: Lung-to-head ratio: a need to unify the technique. Ultrasound Obstet Gynecol. 39(1):2-6, 2012
                                                                  8. Mehollin-Ray AR et al: Fetal MR imaging of congenital diaphragmatic hernia. Radiographics. 32(4):1067-84, 2012
                                                                  9. Alfaraj MA et al: Congenital diaphragmatic hernia: lung-to-head ratio and lung volume for prediction of outcome. Am J Obstet Gynecol. 205(1):43.e1-8, 2011
                                                                  10. Quintero RA et al: The quantitative lung index (QLI): a gestational age-independent sonographic predictor of fetal lung growth. Am J Obstet Gynecol. 205(6):544.e1-8, 2011
                                                                  11. Knox E et al: Prenatal detection of pulmonary hypoplasia in fetuses with congenital diaphragmatic hernia: a systematic review and meta-analysis of diagnostic studies. J Matern Fetal Neonatal Med. 23(7):579-88, 2010
                                                                  12. Yamamoto M et al: Fetal lung assessment in congenital diaphragmatic hernia: evidence for growth. Ultrasound Obstet Gynecol. 35(5):522-4, 2010
                                                                  13. Cannie M et al: Diffusion-weighted MRI in lungs of normal fetuses and those with congenital diaphragmatic hernia. Ultrasound Obstet Gynecol. 34(6):678-86, 2009
                                                                  14. Deprest JA et al: Changing perspectives on the perinatal management of isolated congenital diaphragmatic hernia in Europe. Clin Perinatol. 36(2):329-47, ix, 2009
                                                                  15. Grisaru-Granovsky S et al: Congenital diaphragmatic hernia: review of the literature in reflection of unresolved dilemmas. Acta Paediatr. 98(12):1874-81, 2009
                                                                  16. Jani JC et al: Prenatal prediction of neonatal morbidity in survivors with congenital diaphragmatic hernia: a multicenter study. Ultrasound Obstet Gynecol. 33(1):64-9, 2009
                                                                  17. Jani JC et al: Severe diaphragmatic hernia treated by fetal endoscopic tracheal occlusion. Ultrasound Obstet Gynecol. 34(3):304-10, 2009
                                                                  18. Jelin E et al: Tracheal occlusion for fetal congenital diaphragmatic hernia: the US experience. Clin Perinatol. 36(2):349-61, ix, 2009
                                                                  19. Sinha CK et al: Congenital diaphragmatic hernia: prognostic indices in the fetal endoluminal tracheal occlusion era. J Pediatr Surg. 44(2):312-6, 2009
                                                                  20. Büsing KA et al: MR relative fetal lung volume in congenital diaphragmatic hernia: survival and need for extracorporeal membrane oxygenation. Radiology. 248(1):240-6, 2008
                                                                  21. Datin-Dorriere V et al: Prenatal prognosis in isolated congenital diaphragmatic hernia. Am J Obstet Gynecol. 198(1):80, 2008
                                                                  22. Doné E et al: Prenatal diagnosis, prediction of outcome and in utero therapy of isolated congenital diaphragmatic hernia. Prenat Diagn. 28(7):581-91, 2008
                                                                  23. Ruano R et al: Three-dimensional sonographic measurement of contralateral lung volume in fetuses with isolated congenital diaphragmatic hernia. J Clin Ultrasound. 36(5):273-8, 2008
                                                                  24. Daskalakis G et al: First trimester ultrasound diagnosis of congenital diaphragmatic hernia. J Obstet Gynaecol Res. 33(6):870-2, 2007
                                                                  25. Jani J et al: 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):67-71, 2007
                                                                  26. Peralta CF et al: Assessment of lung area in normal fetuses at 12-32 weeks. Ultrasound Obstet Gynecol. 26(7):718-24, 2005
                                                                  27. Deprest J et al: Fetoscopic tracheal occlusion (FETO) for severe congenital diaphragmatic hernia: evolution of a technique and preliminary results. Ultrasound Obstet Gynecol. 24(2):121-6, 2004
                                                                  28. Hedrick HL et al: Right congenital diaphragmatic hernia: Prenatal assessment and outcome. J Pediatr Surg. 39(3):319-23; discussion 319-23, 2004
                                                                  29. Harrison MR et al: A randomized trial of fetal endoscopic tracheal occlusion for severe fetal congenital diaphragmatic hernia. N Engl J Med. 349(20):1916-24, 2003
                                                                  30. Laudy JA et al: Congenital diaphragmatic hernia: an evaluation of the prognostic value of the lung-to-head ratio and other prenatal parameters. Prenat Diagn. 23(8):634-9, 2003
                                                                  31. Rypens F et al: Fetal lung volume: estimation at MR imaging-initial results. Radiology. 219(1):236-41, 2001