HemoChat

Evidence-Based AI Medical Search

← Back to guidelines
Cardiology433 papers

Congenital diaphragmatic hernia

Last edited: 4/14/2026

Overview

Congenital diaphragmatic hernia (CDH) is a birth defect characterized by the failure of the diaphragm to close properly, leading to abdominal organs herniated into the thoracic cavity, often resulting in pulmonary hypoplasia and respiratory distress 115.

Diagnosis

  • Prenatal diagnosis via ultrasound, often identifying associated anomalies like intrathoracic stomach or echogenic kidneys 47.
  • Postnatal imaging: Chest X-ray showing mediastinal shift, liver herniation, and bowel loops in the thorax 111.
  • Liver scintigraphy can confirm diaphragmatic defects, particularly useful in delayed radiographic presentations 41.
  • Genetic testing recommended to identify associated syndromes or chromosomal anomalies in ~30% of cases 25614.

    • Management

  • Immediate neonatal resuscitation and stabilization, including mechanical ventilation support 36.
  • Extracorporeal membrane oxygenation (ECMO) for severe respiratory failure, with careful monitoring for multiorgan dysfunction 3.
  • Surgical repair typically performed after stabilization, often using a staged approach 111.
  • Pharmacologic support includes inotropic agents for hemodynamic stability and inhaled nitric oxide for pulmonary hypertension 36.

    • Special Populations

  • Pregnancy: Prenatal diagnosis crucial for planning multidisciplinary neonatal care; prenatal interventions under investigation 1.
  • Pediatrics: Survivors require long-term follow-up for pulmonary function, exercise capacity, and associated anomalies 9.
  • Comorbidities: Patients with genetic syndromes (e.g., Fryns syndrome, 17q12 microdeletion) may have additional organ system involvement requiring specialized care 261422.

    • Key Recommendations

  • Implement prenatal and neonatal registries to collect comprehensive data for improving outcomes (Evidence: Expert opinion 11).
  • Utilize genetic testing to identify associated syndromes and tailor multidisciplinary management plans (Evidence: Moderate 25).
  • Consider ECMO early in severe cases to support respiratory function, closely monitoring for multiorgan dysfunction (Evidence: Moderate 3).
  • Perform surgical repair after stabilization, considering staged approaches for optimal outcomes (Evidence: Expert opinion 1).
  • Provide long-term follow-up for survivors focusing on pulmonary health and associated anomalies (Evidence: Moderate 9).

    • References

    1 Vergote S, De Bie FR, Duffy JMN, Bosteels J, Benachi A, Power B et al.. Core outcome set for perinatal interventions for congenital diaphragmatic hernia. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2023. link 2 Wild KT, Gordon T, Bhoj EJ, Du H, Jhangiani SN, Posey JE et al.. Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. American journal of medical genetics. Part A 2020. link 3 Delaplain PT, Ehwerhemuepha L, Nguyen DV, Di Nardo M, Jancelewicz T, Awan S et al.. The development of multiorgan dysfunction in CDH-ECMO neonates is associated with the level of pre-ECMO support. Journal of pediatric surgery 2020. link 4 Mimura K, Endo M, Matsuoka K, Tomimatsu T, Tazuke Y, Okuyama H et al.. Prenatal findings of serpentine-like syndrome with congenital intrathoracic stomach: differential diagnosis from congenital diaphragmatic hernia. Journal of medical ultrasonics (2001) 2019. link 5 Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y et al.. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. PLoS genetics 2018. link 6 Goumy C, Laffargue F, Eymard-Pierre E, Kemeny S, Gay-Bellile M, Gouas L et al.. Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. American journal of medical genetics. Part A 2015. link 7 Hendrix NW, Clemens M, Canavan TP, Surti U, Rajkovic A. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. Fetal diagnosis and therapy 2012. link 8 Donahoe PK. A pediatric surgeon retools in genetics and genomics to study congenital diaphragmatic hernia. Journal of pediatric surgery 2009. link 9 Peetsold MG, Heij HA, Nagelkerke AF, Ijsselstijn H, Tibboel D, Quanjer PH et al.. Pulmonary function and exercise capacity in survivors of congenital diaphragmatic hernia. The European respiratory journal 2009. link 10 Parisi MA, Zayed H, Slavotinek AM, Rutledge JC. Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?. American journal of medical genetics. Part A 2009. link 11 Tsao K, Lally KP. The Congenital Diaphragmatic Hernia Study Group: a voluntary international registry. Seminars in pediatric surgery 2008. link 12 Stoll C, Alembik Y, Dott B, Roth MP. Associated malformations in cases with congenital diaphragmatic hernia. Genetic counseling (Geneva, Switzerland) 2008. link 13 Hwang MS, Su WJ, Lin JL. Asplenia syndrome in a pair of monozygotic twins. Acta paediatrica (Oslo, Norway : 1992) 2006. link 14 Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW et al.. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. American journal of medical genetics. Part A 2006. link 15 Smith NP, Jesudason EC, Featherstone NC, Corbett HJ, Losty PD. Recent advances in congenital diaphragmatic hernia. Archives of disease in childhood 2005. link 16 Oner N, Başaran UN, Yalçin O, Vatansever U, Acunaş B. A newborn infant with left diaphragm agenesis, radial aplasia and preauricular appendices. Clinical dysmorphology 2004. link 17 Priolo M, Casile G, Laganà C. Pulmonary agenesis/hypoplasia, microphthalmia, and diaphragmatic defects: report of an additional case. Clinical dysmorphology 2004. link 18 Kumar P, Ferrone PJ, Fox J, Koppel R. Bilateral cataracts, retinal detachment and vitreous hemorrhage in a newborn with congenital diaphragmatic hernia. Journal of perinatology : official journal of the California Perinatal Association 2003. link 19 Neville HL, Jaksic T, Wilson JM, Lally PA, Hardin WD, Hirschl RB et al.. Bilateral congenital diaphragmatic hernia. Journal of pediatric surgery 2003. link 20 Brooks AS, van Dooren M, Hoogeboom J, Gischler S, Willems PJ, Tibboel D. Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome. Clinical dysmorphology 2002. link 21 Davis C, Samarakkody U. Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemidiaphragmatic agenesis. Journal of paediatrics and child health 2002. link 22 Neville HL, Jaksic T, Wilson JM, Lally PA, Hardin WD, Hirschl RB et al.. Fryns syndrome in children with congenital diaphragmatic hernia. Journal of pediatric surgery 2002. link 23 Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M. Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review. American journal of medical genetics 1998. link 24 Devriendt K, Naulaers G, Matthijs G, Van Houdt K, Devlieger H, Gewillig M et al.. Agenesis of corpus callosum and anophthalmia in the asplenia syndrome. A recognisable association?. Annales de genetique 1997. link 25 Nakada K, Kawaguchi F, Wakisaka M, Nakada M, Enami T, Yamate N. Digestive tract disorders associated with asplenia/polysplenia syndrome. Journal of pediatric surgery 1997. link90103-2) 26 Tu ST, Wu JM, Yeh BH, Ke WL, Lin JH, Tzeng CC. Intestinal obstruction in asplenia syndrome: report of three cases. Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1994. link 27 Langer JC, Winthrop AL, Whelan D. Fryns syndrome: a rare familial cause of congenital diaphragmatic hernia. Journal of pediatric surgery 1994. link90820-6) 28 Wang JK, Chang MH, Li YW, Chen WJ, Lue HC. Association of hiatus hernia with asplenia syndrome. European journal of pediatrics 1993. link 29 Oliver MJ, Wilson AR, Kapila L. Acute pancreatitis and gastric volvulus occurring in a congenital diaphragmatic hernia. Journal of pediatric surgery 1990. link90516-c) 30 Milne LW, Morosin AM, Campbell JR, Harrison MW. Pars sternalis diaphragmatic hernia with omphalocele: a report of two cases. Journal of pediatric surgery 1990. link80006-5) 31 Caplan MS, MacGregor SN. Perinatal management of congenital diaphragmatic hernia and anterior abdominal wall defects. Clinics in perinatology 1989. link 32 Hancock BJ, Wiseman NE. Incarcerated congenital lumbar hernia associated with the lumbocostovertebral syndrome. Journal of pediatric surgery 1988. link80428-7) 33 Ursell PC, Wigger HJ. Asplenia syndrome in conjoined twins: a case report. Teratology 1983. link 34 Monie IW. The asplenia syndrome: an explanation for absence of the spleen. Teratology 1982. link 35 Shinohara Y, Komiya S, Nakashima A, Nakashima T, Takeuchi S, Ono E et al.. Asplenia and polysplenia syndrome. Acta pathologica japonica 1982. link 36 Bloss RS, Aranda JV, Beardmore HE. Congenital diaphragmatic hernia: pathophysiology and pharmacologic support. Surgery 1981. link 37 Katcher AL. Familial asplenia, other malformations, and sudden death. Pediatrics 1980. link 38 Roguin N, Auslander L, Zeltzer M, Katzir J, Sujov P, Riss E. Asplenia syndrome. Report of two cases. Israel journal of medical sciences 1979. link 39 Majeski JA, Upshur JK. Asplenia syndrome. A study of congenital anomalies in 16 cases. JAMA 1978. link 40 Ehrlich FE, Salzberg AM. Pathophysiology and management of congenital posterolateral diaphragmatic hernias. The American surgeon 1978. link 41 Yeung WC, Haines JE, Larson SM. Diagnosis of posterolateral congenital diaphragmatic (Bochdalek) hernia by liver scintigram: case report. Journal of nuclear medicine : official publication, Society of Nuclear Medicine 1976. link 42 Kirchner SG, Burko H, O'Neill JA, Stahlman M. Delayed radiographic presentation of congenital right diaphragmatic hernia. Radiology 1975. link

    Original source

    1. [1]
      Core outcome set for perinatal interventions for congenital diaphragmatic hernia. — Vergote S, De Bie FR, Duffy JMN, Bosteels J, Benachi A, Power B et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2023)
    2. [2]
      Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. — Wild KT, Gordon T, Bhoj EJ, Du H, Jhangiani SN, Posey JE et al. American journal of medical genetics. Part A (2020)
    3. [3]
      The development of multiorgan dysfunction in CDH-ECMO neonates is associated with the level of pre-ECMO support. — Delaplain PT, Ehwerhemuepha L, Nguyen DV, Di Nardo M, Jancelewicz T, Awan S et al. Journal of pediatric surgery (2020)
    4. [4]
      Prenatal findings of serpentine-like syndrome with congenital intrathoracic stomach: differential diagnosis from congenital diaphragmatic hernia. — Mimura K, Endo M, Matsuoka K, Tomimatsu T, Tazuke Y, Okuyama H et al. Journal of medical ultrasonics (2001) (2019)
    5. [5]
      De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. — Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y et al. PLoS genetics (2018)
    6. [6]
      Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. — Goumy C, Laffargue F, Eymard-Pierre E, Kemeny S, Gay-Bellile M, Gouas L et al. American journal of medical genetics. Part A (2015)
    7. [7]
      Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. — Hendrix NW, Clemens M, Canavan TP, Surti U, Rajkovic A Fetal diagnosis and therapy (2012)
    8. [8]
      A pediatric surgeon retools in genetics and genomics to study congenital diaphragmatic hernia. — Donahoe PK Journal of pediatric surgery (2009)
    9. [9]
      Pulmonary function and exercise capacity in survivors of congenital diaphragmatic hernia. — Peetsold MG, Heij HA, Nagelkerke AF, Ijsselstijn H, Tibboel D, Quanjer PH et al. The European respiratory journal (2009)
    10. [10]
      Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects? — Parisi MA, Zayed H, Slavotinek AM, Rutledge JC American journal of medical genetics. Part A (2009)
    11. [11]
      The Congenital Diaphragmatic Hernia Study Group: a voluntary international registry. — Tsao K, Lally KP Seminars in pediatric surgery (2008)
    12. [12]
      Associated malformations in cases with congenital diaphragmatic hernia. — Stoll C, Alembik Y, Dott B, Roth MP Genetic counseling (Geneva, Switzerland) (2008)
    13. [13]
      Asplenia syndrome in a pair of monozygotic twins. — Hwang MS, Su WJ, Lin JL Acta paediatrica (Oslo, Norway : 1992) (2006)
    14. [14]
      Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. — Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW et al. American journal of medical genetics. Part A (2006)
    15. [15]
      Recent advances in congenital diaphragmatic hernia. — Smith NP, Jesudason EC, Featherstone NC, Corbett HJ, Losty PD Archives of disease in childhood (2005)
    16. [16]
      A newborn infant with left diaphragm agenesis, radial aplasia and preauricular appendices. — Oner N, Başaran UN, Yalçin O, Vatansever U, Acunaş B Clinical dysmorphology (2004)
    17. [17]
      Pulmonary agenesis/hypoplasia, microphthalmia, and diaphragmatic defects: report of an additional case. — Priolo M, Casile G, Laganà C Clinical dysmorphology (2004)
    18. [18]
      Bilateral cataracts, retinal detachment and vitreous hemorrhage in a newborn with congenital diaphragmatic hernia. — Kumar P, Ferrone PJ, Fox J, Koppel R Journal of perinatology : official journal of the California Perinatal Association (2003)
    19. [19]
      Bilateral congenital diaphragmatic hernia. — Neville HL, Jaksic T, Wilson JM, Lally PA, Hardin WD, Hirschl RB et al. Journal of pediatric surgery (2003)
    20. [20]
      Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome. — Brooks AS, van Dooren M, Hoogeboom J, Gischler S, Willems PJ, Tibboel D Clinical dysmorphology (2002)
    21. [21]
      Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemidiaphragmatic agenesis. — Davis C, Samarakkody U Journal of paediatrics and child health (2002)
    22. [22]
      Fryns syndrome in children with congenital diaphragmatic hernia. — Neville HL, Jaksic T, Wilson JM, Lally PA, Hardin WD, Hirschl RB et al. Journal of pediatric surgery (2002)
    23. [23]
      Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review. — Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M American journal of medical genetics (1998)
    24. [24]
      Agenesis of corpus callosum and anophthalmia in the asplenia syndrome. A recognisable association? — Devriendt K, Naulaers G, Matthijs G, Van Houdt K, Devlieger H, Gewillig M et al. Annales de genetique (1997)
    25. [25]
      Digestive tract disorders associated with asplenia/polysplenia syndrome. — Nakada K, Kawaguchi F, Wakisaka M, Nakada M, Enami T, Yamate N Journal of pediatric surgery (1997)
    26. [26]
      Intestinal obstruction in asplenia syndrome: report of three cases. — Tu ST, Wu JM, Yeh BH, Ke WL, Lin JH, Tzeng CC Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui (1994)
    27. [27]
      Fryns syndrome: a rare familial cause of congenital diaphragmatic hernia. — Langer JC, Winthrop AL, Whelan D Journal of pediatric surgery (1994)
    28. [28]
      Association of hiatus hernia with asplenia syndrome. — Wang JK, Chang MH, Li YW, Chen WJ, Lue HC European journal of pediatrics (1993)
    29. [29]
      Acute pancreatitis and gastric volvulus occurring in a congenital diaphragmatic hernia. — Oliver MJ, Wilson AR, Kapila L Journal of pediatric surgery (1990)
    30. [30]
      Pars sternalis diaphragmatic hernia with omphalocele: a report of two cases. — Milne LW, Morosin AM, Campbell JR, Harrison MW Journal of pediatric surgery (1990)
    31. [31]
      Perinatal management of congenital diaphragmatic hernia and anterior abdominal wall defects. — Caplan MS, MacGregor SN Clinics in perinatology (1989)
    32. [32]
      Incarcerated congenital lumbar hernia associated with the lumbocostovertebral syndrome. — Hancock BJ, Wiseman NE Journal of pediatric surgery (1988)
    33. [33]
      Asplenia syndrome in conjoined twins: a case report. — Ursell PC, Wigger HJ Teratology (1983)
    34. [34]
      The asplenia syndrome: an explanation for absence of the spleen. — Monie IW Teratology (1982)
    35. [35]
      Asplenia and polysplenia syndrome. — Shinohara Y, Komiya S, Nakashima A, Nakashima T, Takeuchi S, Ono E et al. Acta pathologica japonica (1982)
    36. [36]
      Congenital diaphragmatic hernia: pathophysiology and pharmacologic support. — Bloss RS, Aranda JV, Beardmore HE Surgery (1981)
    37. [37]
      Familial asplenia, other malformations, and sudden death. — Katcher AL Pediatrics (1980)
    38. [38]
      Asplenia syndrome. Report of two cases. — Roguin N, Auslander L, Zeltzer M, Katzir J, Sujov P, Riss E Israel journal of medical sciences (1979)
    39. [39]
      Asplenia syndrome. A study of congenital anomalies in 16 cases. — Majeski JA, Upshur JK JAMA (1978)
    40. [40]
      Pathophysiology and management of congenital posterolateral diaphragmatic hernias. — Ehrlich FE, Salzberg AM The American surgeon (1978)
    41. [41]
      Diagnosis of posterolateral congenital diaphragmatic (Bochdalek) hernia by liver scintigram: case report. — Yeung WC, Haines JE, Larson SM Journal of nuclear medicine : official publication, Society of Nuclear Medicine (1976)
    42. [42]
      Delayed radiographic presentation of congenital right diaphragmatic hernia. — Kirchner SG, Burko H, O'Neill JA, Stahlman M Radiology (1975)
    Share:TwitterRedditLinkedIn

    HemoChat

    by SPINAI

    Evidence-based clinical decision support powered by SNOMED-CT, Neo4j GraphRAG, and NASS/AO/NICE guidelines.

    ⚕ For clinical reference only. Not a substitute for professional judgment.

    © 2026 HemoChat. All rights reserved.
    Research·Pricing·Privacy & Terms·Refund·SNOMED-CT · NASS · AO Spine · NICE · GraphRAG