Congenital diaphragmatic hernia: a literature review
Hernia diafragmática congénita: una revisión de literatura
##plugins.themes.bootstrap3.article.sidebar##
PDF (Español (España))
FLIP
##plugins.themes.bootstrap3.article.main##
Congenital diaphragmatic hernia is a structural defect in the diaphragm that allows abdominal organs to protrude into the thoracic cavity during fetal development, the main consequence of which is pulmonary hypoplasia. The incidence of congenital diaphragmatic hernia is estimated at 1 to 4 cases per 10,000 live births. Specialist centers report survival rates of up to 85%, although this is associated with increased longterm morbidity. The etiology of congenital diaphragmatic hernia is related to genetic and environmental factors that influence the development of the diaphragm and other somatic structures. The presentation of the hernia may be left-sided (85 %), right-sided (13 %), or bilateral (2 %). About 30-70 % of cases are isolated, while 30-50 % are complex and associated with other congenital anomalies. Prenatal diagnosis- of congenital diaphragmatic hernia is usually made by anatomical ultrasound between 18 and 22 weeks of gestation. Early detection is essential for effective management and prognosis of diaphragmatic hernia. It also allows the severity of pulmonary hypoplasia to be assessed and the presence of congenital anomalies or associated genetic syndromes to be ruled out. Birth can then be planned in a medical center specializing in stabilizing neonatal pulmonary and cardiovascular function and, if necessary, corrective surgery. Our study is a non-systematic review of the literature on congenital diaphragmatic hernia.
Downloads
##plugins.themes.bootstrap3.article.details##
Snoek K, Reiss I, Greenough A, Capolupo I, Urlesberger B, Wessel L, et al. Standardized postnatal management of infants with congenital diaphragmatic hernia in Europe: The CDH EURO Consortium Consensus - 2015 Update. Neonatology 2016; 110(1):66-74. doi: 10.1159/000444210
Canadian Congenital Diaphragmatic Hernia Collaborative; Puligandla PS, Skarsgard ED, Offringa M, Adatia I, Baird R, et al. Diagnosis and management of congenital diaphragmatic hernia: a clinical practice guideline. CMAJ. 2018;190(4):E103-12. doi: 10.1503/cmaj.170206
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: 10.1136/archdischild-2014-306174
Slavotinek AM. The genetics of congenital diaphragmatic hernia. Semin Perinatol. 2005;29(2):77-85. doi: 10.1053/j.semperi.2005.04.003
Bielinska M, Jay PY, Erlich JM, Mannisto S, Urban Z, Heikinheimo M, et al. Molecular genetics of congenital diaphragmatic defects. Ann Med. 2007;39(4):261-74. doi: 10.1080/0785389070132688
Vezzaro V, Sobrero H, Moraes M. Borbonet D. Descripción epidemiológica de pacientes portadores de hernia diafragmática congénita en un período de 13 años: 2007- 2020. [Monografía de posgrado]. Montevideo: Hospital Pereira Rossell; 2020.
Dott MM, Wong LY, Rasmussen SA. Population-based study of congenital diaphragmatic hernia: risk factors and survival in Metropolitan Atlanta, 1968-1999. Birth Defects Res A Clin Mol Teratol. 2003;67(4):261-7. doi: 10.1002/bdra.10039
Slavotinek AM. Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A. 2004;124A(4):427-33. doi: 10.1002/ajmg.a.20381
Deprest J, Brady P, Nicolaides K, Benachi A, Berg C, Vermeesch J, et al. Prenatal management of the fetus with isolated congenital diaphragmatic hernia in the era of the TOTAL trial. Semin Fetal Neonatal Med. 2014;19(6):338-48. doi: 10.1016/j.siny.2014.09.006
Graham G, Devine PC. Antenatal diagnosis of congenital diaphragmatic hernia. Semin Perinatol. 2005;29(2):69-76. doi: 10.1053/j.semperi.2005.04.002
Pober BR. Genetic aspects of human congenital diaphragmatic hernia. Clin Genet. 2008;74(1):1-15. doi: 10.1111/j.1399-0004.2008.01031.x
Benachi A, Cordier AG, Cannie M, Jani J. Advances in prenatal diagnosis of congenital diaphragmatic hernia. Semin Fetal Neonatal Med. 2014;19(6):331-7. doi: 10.1016/j.siny.2014.09.005
Elhalaby EA, Abo Sikeena MH. Delayed presentation of congenital diaphragmatic hernia. Pediatr Surg Int. 2002;18(5-6):480-5. doi: 10.1007/s00383-002-0743-1
Keller B, Hirose S, Framer D. Trastornos quirúrgicos del tórax y las vías respiratorias. En: Gleason CA, Juul SE. Avery. Enfermedades del recién nacido. 10a ed. Elsevier: 2018. p. 695- 723.
Tovar JA, Martínez L. Malformaciones broncopulmonares. En: Cobos N, Pérez-Yarza EG, editores. Tratado de Neumología Infantil. Madrid: Ergon; 2009. 257 p.
Longoni M, Pober BR, High FA. Congenital Diaphragmatic Hernia Overview. En: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, editores. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023 [citado el 17 de septiembre de 2023. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK1359/
Huerta I. Hernia diafragmática congénita: marcadores sonográficos prenatales y pronóstico perinatal. Rev Peru Ginecol Obstet. 2013;59:125-31
Cordier AG, Jani JC, Cannie MM, Rodó C, Fabietti I, Persico N, et al. Stomach position in prediction of survival in left-sided congenital diaphragmatic hernia with or without fetoscopic endoluminal tracheal occlusion. Ultrasound Obstet Gynecol. 2015;46(2):155-61. doi: 10.1002/uog.14759
The Fetal Medicine Foundation [Internet]. London: The Foundation; 2002 [citado el 10 de septiembre de 2023]. Fetal Abnormalities, Thorax: diaphragmatic hernia. Disponible en: https://fetalmedicine.org/education/fetal-abnormalities/thorax/diaphragmatic-hernia
Lin AE, Pober BR, Adatia I. Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency, and impact on management. Am J Med Genet C Semin Med Genet. 2007;145C(2):201-16. doi: 10.1002/ajmg.c.30131
Russo FM, Cordier AG, De Catte L, Saada J, Benachi A, Deprest J, et al. Proposal for standardized prenatal ultrasound assessment of the fetus with congenital diaphragmatic hernia by the European reference network on rare inherited and congenital anomalies (ERNICA). Prenat Diagn. 2018;38(9):629-37. doi: 10.1002/pd.5297
Jani JC, Nicolaides KH, Gratacós E, Valencia CM, Doné E, Martinez JM, et al. Severe diaphragmatic hernia treated by fetal endoscopic tracheal occlusion. Ultrasound Obstet Gynecol. 2009;34(3):304-10. doi: 10.1002/uog.6450
Lally KP, Bagolan P, Hosie S, Lally PA, Stewart M, Cotten CM, et al. Corticosteroids for fetuses with congenital diaphragmatic hernia: canwe show benefit? J Pediatr Surg. 2006;41(4):668-74. doi: 10.1016/j.jpedsurg.2005.12.007
Logan JW, Rice HE, Goldberg RN, Cotten CM. Congenital diaphragmatic hernia: a systematic review and summary of best-evidence practice strategies. J Perinatol. 2007;27(9):535-49. doi: 10.1038/sj.jp.7211794
Hutcheon JA, Butler B, Lisonkova S, Marquette GP, Mayer C, Skoll A, et al. Timing of delivery for pregnancies with congenital diaphragmatic hernia. BJOG. 2010;117(13):1658-62. doi: 10.1111/j.1471-0528.2010.02738.x
Frenckner BP, Lally PA, Hintz SR, Lally KP; Congenital Diaphragmatic Hernia Study Group. Prenatal diagnosis of congenital diaphragmatic hernia: how should the babies be delivered? J Pediatr Surg. 2007;42(9):1533-8. doi: 10.1016/j.jpedsurg.2007.04.016
Burgos CM, Frenckner B, Luco M, Harting MT, Lally PA, Lally KP. Prenatally diagnosed congenital diaphragmatic hernia: optimal mode of delivery? J Perinatol. 2017;37(2):134-8. doi: 10.1038/jp.2016.221
Frenckner B, Ehrén H, Granholm T, Lindén V, Palmér K. Improved results in patients who have congenital diaphragmatic hernia using preoperative stabilization, extracorporeal membrane oxygenation, and delayed surgery. J Pediatr Surg. 1997;32(8):1185-9. doi: 10.1016/s0022-3468(97)90679-5
Hospital Clínic de Barcelona, Institut Clínic de Ginecologia, Obstetrícia i Neonatologia, Servicio de Obstetrícia, Área de Medicina Fetal, Programa de Cirugía Fetal. Protocolo tratamiento prenatal de la hernia diafragmática congénita: oclusión traqueal. Barcelona: Hospital Clínic de Barcelona; 2011.
Friedlich P, Shin C, Tiozzo C, Seri I. Shock en recién nacido sometido a cirugía. En: Polin R. Cardiología y hemodinamia. Buenos Aires: Journal; 2011. p. 214-7.
Kamath BD, Fashaw L, Kinsella JP. Adrenal insufficiency in newborns with congenital diaphragmatic hernia. J Pediatr. 2010;156(3):495-497.e1. doi: 10.1016/j.jpeds.2009.10.044
Meritano J, Espelt I, Nieto R, Gómez G, Vahinger M, Pérez G, et al. Manejo del paciente con hipertensión pulmonar persistente en el recién nacido. Rev Hosp Mat Inf Ramón Sardá. 2020; 3(5):244-56.
Da-Costa-Santos J, Renato Bennini J. Imaging assessment of prognostic parameters in cases of isolated congenital diaphragmatic hernia: integrative review. Rev Bras Ginecol Obstet. 2022;44(4):435-41. doi: 10.1055/s-0041-1740296
Rafat N, Schaible T. Extracorporeal Membrane Oxygenation in Congenital Diaphragmatic Hernia. Front Pediatr. 2019;7:336. doi: 10.3389/fped.2019.00336
Yu PT, Jen HC, Rice-Townsend S, Guner YS. The role of ECMO in the management of congenital diaphragmatic hernia. Semin Perinatol. 2020;44(1):151166. doi: 10.1053/j.semperi.2019.07.005
Brogan TV, Lequier L, Lorusso R, MacLaren G, Peek G, editores. Extracorporeal Life Support: The ELSO Red Book. 5a ed. Ann Arbor, MI: ELSO; 2017. Congenital diaphragmatic hernia and ECMO; p. 137–43.
Dao DT, Burgos CM, Harting MT, Lally KP, Lally PA, Nguyen HT, et al. Surgical Repair of Congenital Diaphragmatic Hernia After Extracorporeal Membrane Oxygenation Cannulation: Early Repair Improves Survival. Ann Surg. 2021 Jul 1;274(1):186-194. doi: 10.1097/SLA.0000000000003386
Mattioli G, Petralia P, Torre M, editores. Pediatric Thoracic Surgery. Cham: Springer International Publishing; 2021. 219 p.
Coran AG, Scott Adzick N, Krummel TM, Laberge JM, Shamberger R, Caldamone A. Pediatric Surgery. Elsevier Health Sciences; 2012
Heiwegen K, de Blaauw I, Botden SMBI. A systematic review and meta-analysis of surgical morbidity of primary versus patch repaired congenital diaphragmatic hernia patients. Sci Rep. 2021;11(1):12661. doi: 10.1038/s41598-021-91908-7
Putnam LR, Tsao K, Lally KP, Blakely ML, Jancelewicz T, Lally PA, et al. Minimally Invasive vs Open Congenital Diaphragmatic Hernia Repair: Is There a Superior Approach? J Am Coll Surg. 2017;224(4):416-22. doi: 10.1016/j.jamcollsurg.2016.12.050
Koumbourlis A, Wung J, Stolar C. Lung function in infants after repair of congenital diaphragmatic hernia. J Pediatr Surg 2006; 41(10):1716-21. doi: 101016/j.jpedsurg.2006.05.044.
Salas G, Nieves M. Abordaje neonatal de la hernia diafragmática. En: Cannizzaro C, Martínes M, Chatás G. Fetoneonatología quirúrgica. Volumen I: aspectos clínicos. Buenos Aires: Journal, 2018: p. 467-80.
Putnam LR, Harting MT, Tsao K, Morini F, Yoder BA, Luco M, et al. Congenital Diaphragmatic Hernia Defect Size and Infant Morbidity at Discharge. Pediatrics. 2016 Nov;138(5):e20162043. doi: 10.1542/peds.2016-2043
Long AM, Bunch KJ, Knight M, Kurinczuk JJ, Losty PD; BAPS-CASS. One-year outcomes of infants born with congenital diaphragmatic hernia: a national population cohort study. Arch Dis Child Fetal Neonatal Ed. 2019;104(6):F643-F647. doi: 10.1136/archdischild-2018-316396
Peluso AM, Othman HF, Elsamny EM, Sammour I, Yeaney NK, Aly H. Survival trends and outcomes among preterm infants with congenital diaphragmatic hernia. J Perinatol. 2020;40(2):263-8. doi: 10.1038/s41372-019-0523-6
Yoder BA, Lally PA, Lally KP; Congenital Diaphragmatic Hernia Study Group. Does a highest pre-ductal O(2) saturation <85% predict non-survival for congenital diaphragmatic hernia? J Perinatol. 2012;32(12):947-52. doi: 10.1038/jp.2012.18
American Academy of Pediatrics Section on Surgery; American Academy of Pediatrics Committee on Fetus and Newborn; Lally KP, Engle W. Postdischarge follow-up of infants with congenital diaphragmatic hernia. Pediatrics. 2008;121(3):627-32. doi: 10.1542/peds.2007-3282
Zani A, Chung WK, Deprest J, Harting MT, Jancelewicz T, Kunisaki SM, Patel N, Antounians L, Puligandla PS, Keijzer R. Congenital diaphragmatic hernia. Nat Rev Dis Primers. 2022;8(1):37. doi: 10.1038/s41572-022-00362-w
Czeizel A, Kovács M. A family study of congenital diaphragmatic defects. Am J Med Genet. 1985;21(1):105-17. doi: 10.1002/ajmg.1320210115
