СУЧАСНІ ПІДХОДИ ДО ДІАГНОСТИКИ ТА ЛІКУВАННЯ ВРОДЖЕНОЇ ДІАФРАГМАЛЬНОЇ ГРИЖІ У ДІТЕЙ: ОГЛЯД ЛІТЕРАТУРИ

В.С. Конопліцький; Ю.Є. Коробко; А.І. Сасюк; О.О. Лукіянець; Т.І. Михальчук; Ю.А. Димчина

doi:10.32402/

Authors

V.S. Konoplitskyi National Pirogov Memorial Medical University, Vinnytsia, Ukraine https://orcid.org/0000-0001-9525-1547 Author
Yu.Ye. Korobko National Pirogov Memorial Medical University, Vinnytsia, Ukraine https://orcid.org/0000-0002-3299-878X Author
A.I. Sasiuk National Pirogov Memorial Medical University, Vinnytsia, Ukraine https://orcid.org/0000-0001-7454-2986 Author
O.O. Lukiianets National Pirogov Memorial Medical University, Vinnytsia, Ukraine https://orcid.org/0000-0001-8811-080X Author
T.I. Mykhalchuk National Pirogov Memorial Medical University, Vinnytsia, Ukraine https://orcid.org/0000-0002-6396-470X Author
Yu.A. Dymchyna National Pirogov Memorial Medical University, Vinnytsia, Ukraine https://orcid.org/0000-0001-7055-0866 Author

DOI:

https://doi.org/10.32402/

Keywords:

congenital diaphragmatic hernia, children, respiratory failure, literature review, pulmonary hypoplasia, persistent pulmonary hypertension, prenatal diagnosis, surgical treatment.

Abstract

Congenital diaphragmatic hernia (CDH) in children is a severe congenital disorder whose clinical course is determined not only by the presence of a diaphragmatic defect but also by the degree of pulmonary hypoplasia, persistent pulmonary hypertension, and associated congenital anomalies. Despite advances in prenatal diagnosis, neonatal intensive care, and modern surgical technologies, the management of neonates with severe forms of CDH remains challenging, and optimal approaches to prognostic assessment and treatment selection continue to evolve.

OBJECTIVE. To systematize and critically analyze current evidence regarding the etiology, pathogenesis, diagnosis, treatment, and prognosis of congenital diaphragmatic hernia in children based on the principles of evidence-based medicine.

MATERIALS AND METHODS. A systematic search, content analysis, descriptive analysis, and comparative analysis of current scientific literature, systematic reviews, meta-analyses, multicenter clinical studies, international guidelines, and consensus documents on CDH were performed. The search was conducted in the PubMed/MEDLINE, Scopus, Web of Science, and Google Scholar databases. Publications addressing the pathogenesis, prenatal and postnatal diagnosis, intensive care, surgical treatment, and prognostic assessment of CDH were included in the analysis; more than 90 sources were reviewed at the initial stage.

RESULTS. The main prognostic factors in CDH were found to include the degree of pulmonary hypoplasia, severity of pulmonary hypertension, size of the diaphragmatic defect, intrathoracic liver position, and presence of associated congenital anomalies. Current prenatal diagnosis is based on ultrasonography with assessment of the lung-to-head ratio (LHR) and observed-to-expected LHR (O/E LHR), supplemented by fetal magnetic resonance imaging (MRI) to determine lung volume and anatomical characteristics. The fundamental principle of postnatal management is “stabilization before operation,” including early intubation, gentle ventilation, gastric decompression, management of pulmonary hypertension, and, when indicated, high-frequency ventilation, inhaled nitric oxide, and extracorporeal membrane oxygenation (ECMO). Surgical repair is performed after cardiorespiratory stabilization has been achieved. Thoracoscopic and laparoscopic techniques may be used in stable patients, whereas the choice of repair technique is determined by the size of the defect and the availability of native diaphragmatic tissue. Promising areas of development include fetoscopic endoluminal tracheal occlusion (FETO), advances in minimally invasive technologies, biocompatible materials, and personalized treatment approaches.

CONCLUSIONS. Current management of congenital diaphragmatic hernia in children should be based on a comprehensive multidisciplinary approach involving early prenatal diagnosis, prognostic assessment, and stabilization of the neonate prior to surgical repair. The combination of modern intensive care strategies, minimally invasive surgery, ECMO, and selective use of FETO expands the therapeutic options for severe forms of CDH. Further research is needed to refine prognostic models, standardize indications for fetal and extracorporeal therapies, and improve long-term treatment outcomes.

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References

1. Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, et al. Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet. 2005;1(1):e10.

doi: https://doi.org/10.1371/journal.pgen.0010010

2. Wat MJ, Veenma D, Hogue J, Holder AM, Yu Z, Wat JJ, et al. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet. 2011;48(5):299–307.

doi: https://doi.org/10.1136/jmg.2011.089680

3. Veenma DC, de Klein A, Tibboel D. Developmental and genetic aspects of congenital diaphragmatic hernia. Pediatr Pulmonol. 2012;47(6):534–45.

doi: https://doi.org/10.1002/ppul.21647

4. Greer JJ. Current concepts on the pathogenesis and etiology of congenital diaphragmatic hernia. Respir Physiol Neurobiol. 2013;189(2):232–40.

doi: https://doi.org/10.1016/j.resp.2013.04.015

5. McGivern MR, Best KE, Rankin J, Wellesley D, Greenlees R, Addor MC, et al. Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study. Arch Dis Child Fetal Neonatal Ed. 2015;100(2):F137–44.

doi: https://doi.org/10.1136/archdischild-2014-306174

6. Chandrasekharan PK, Rawat M, Madappa R, Rothstein DH, Lakshminrusimha S. Congenital diaphragmatic hernia: a review. Matern Health Neonatol Perinatol. 2017;3:6.

doi: https://doi.org/10.1186/s40748-017-0045-1

7. Haroun HS. Congenital diaphragmatic hernias: a review article. Anat Physiol Biochem Int J. 2018;4(2):555635.

doi: https://doi.org/10.19080/APBIJ.2018.04.555635

8. Van Mieghem T, Russo FM, Engels A, De Catte L, Devlieger R, Lewi L, et al. Congenital diaphragmatic hernia. In: Copel JA, D'Alton ME, Feltovich H, Gratacós E, Krakow D, Odibo AO, et al., editors. Obstetric imaging: fetal diagnosis and care. 2nd ed. Philadelphia: Elsevier; 2018. p. 124–9.

doi: https://doi.org/10.1016/B978-0-323-44548-1.00021-2

9. Gallot D, Boda C, Ughetto S, Perthus I, Robert-Gnansia E, Francannet C, et al. Prenatal detection and outcome of congenital diaphragmatic hernia: a French registry-based study. Ultrasound Obstet Gynecol. 2007;29(3):276–83.

doi: https://doi.org/10.1002/uog.3863

10. Congenital Diaphragmatic Hernia Study Group. Defect size determines survival in infants with congenital diaphragmatic hernia. Pediatrics. 2007;120(3):e651–7.

doi: https://doi.org/10.1542/peds.2006-3040

11. Basurto D, Russo FM, Papastefanou I, Bredaki E, Allegaert K, Pertierra A, et al. Pulmonary hypertension in congenital diaphragmatic hernia: antenatal prediction and impact on neonatal mortality. Prenat Diagn. 2022;42(10):1303–11.

doi: https://doi.org/10.1002/pd.6207

12. Salas GL, Otaño JC, Cannizzaro CM, Mazzucchelli MT, Goldsmit GS. Congenital diaphragmatic hernia: postnatal predictors of mortality. Arch Argent Pediatr. 2020;118(3):173–9.

doi: https://doi.org/10.5546/aap.2020.eng.173

13. Emanuel H, Breitschopf HV, Harting MT, Martinez Castillo DJ, Yadav A, McBeth K, et al. Pulmonary outcomes of congenital diaphragmatic hernia patients based on defect size (CDH Study Group Stage). Transl Pediatr. 2023;12(8):1490–503.

doi: https://doi.org/10.21037/tp-23-14

14. Otaño JC, Murua V, Rugilo J, Reusmann A, Gonzalez Ruhrnschopf C, Fariña D, et al. Congenital diaphragmatic hernia: relationship between defect size and outcome. Experience in a reference centre. An Pediatr (Engl Ed). 2024;101(1):29–35.

doi: https://doi.org/10.1016/j.anpede.2024.04.020

15. Beurskens LWJE, Tibboel D, Lindemans J, Duvekot JJ, Cohen-Overbeek TE, Veenma DCM, et al. Retinol status of newborn infants is associated with congenital diaphragmatic hernia. Pediatrics. 2010;126(4):712–20.

doi: https://doi.org/10.1542/peds.2010-0521

16. Guglielmetti LC, Estrada AE, Phillips R, Staerkle RF, Gien J, Kinsella JP, et al. Congenital diaphragmatic hernias: severe defect grade predicts the need for fundoplication. Medicine (Baltimore). 2020;99(49):e23383.

doi: https://doi.org/10.1097/MD.0000000000023383

17. Kryvchenia DYu, Rudenko EO, Shulzhyk II. Osnovni chynnyky ryzyku povtornykh operatsii u ditei z vrodzhenymy diafrahmalnymy hryzhamy [The main risk factors for reoperations in children with congenital diaphragmatic hernias]. Paediatric Surgery. Ukraine. 2022;1(74):20–6. Ukrainian.

doi: https://doi.org/10.15574/PS.2022.74.20

18. Schneider A, Becmeur F. Pediatric thoracoscopic repair of congenital diaphragmatic hernias. J Vis Surg. 2018;4:43.

doi: https://doi.org/10.21037/jovs.2018.02.03

19. Kumar A, Parshad R, Suhani, Bhattacharjee HK, Sharma R. Thoracolaparoscopic repair of diaphragmatic hernias. Indian J Thorac Cardiovasc Surg. 2021;37(5):558–64.

doi: https://doi.org/10.1007/s12055-021-01142-z

20. Wren JT Jr, Patel N, Harting MT, McNamara PJ. Hemodynamic precision to guide surgical timing for neonates with congenital diaphragmatic hernia: a narrative review. J Perinatol. 2025;45:552–61.

doi: https://doi.org/10.1038/s41372-025-02265-6

21. Naanani I, Adyel R, Kihal Z, Hafoud S, Bentaleb D, Laouidyi D, et al. Imaging of congenital diaphragmatic hernias. SAS J Med. 2025;11(4):308–15.

doi: https://doi.org/10.36347/sasjm.2025.v11i04.009

22. Filyk OV, Pidhirnyi YaM. Diafrahm-protektyvna shtuchna ventyliatsiia lehen u ditei [Diaphragm-protective mechanical ventilation in children]. Pain Anaesth Intensive Care. 2020;2(91):68–75. Ukrainian.

doi: https://doi.org/10.25284/2519-2078.2(91).2020.205602

23. Tan YW, Banerjee D, Cross KM, De Coppi P, GOSH team, Blackburn SC, et al. Morgagni hernia repair in children over two decades: institutional experience, systematic review, and meta-analysis of 296 patients. J Pediatr Surg. 2018;53(10):1883–9.

doi: https://doi.org/10.1016/j.jpedsurg.2018.04.009

24. Salokha AF, Borys OYa, Ivanochko RV. Vrodzhena diafrahmalna hryzha: chy tse patolohiia tilky neonatalnoho periodu? [Is congenital diaphragmatic hernia a pathology of the neonatal period only?]. Paediatric Surgery. Ukraine. 2020;2(67):91–5. Ukrainian.

doi: https://doi.org/10.15574/PS.2020.67.91

25. Babintseva AG, Khodzynska YuYu, Khoma MV, Basistyi SI, Makarova OV. Vrodzhena diafrahmalna kyla: klinichni vypadky v ditei pozaneonatalnoho viku [Congenital diaphragmatic hernia: clinical cases among post-neonatal age infants]. Ukrainian Journal of Perinatology and Pediatrics. 2021;1(85):100–4. Ukrainian.

doi: https://doi.org/10.15574/PP.2021.85.100

26. Filosso PL, Guerrera F, Sandri A, Lausi PO, Lyberis P, Bora G, et al. Surgical management of chronic diaphragmatic hernias. J Thorac Dis. 2019;11(Suppl 2):S177–85.

doi: https://doi.org/10.21037/jtd.2019.01.54

27. Petersen C, Ure BM, editors. Thoracic surgery in children and adolescents. Berlin: De Gruyter; 2017.

doi: https://doi.org/10.1515/9783110419825

28. Eisenberg RL. Diaphragm. In: Eisenberg RL. What radiology residents need to know: chest radiology. Cham: Springer; 2020. p. 271–7.

doi: https://doi.org/10.1007/978-3-030-16826-1_20

29. Bovino SA. The evolution and treatment of congenital diaphragmatic hernias in neonates [master's thesis]. Boston (MA): Boston University; 2017. Available from: https://hdl.handle.net/2144/23760