Vol 88, No 1 (2017)
Review paper
Published online: 2017-01-31
Congenital diaphragmatic hernia: pathogenesis, prenatal diagnosis and management — literature review
Abstract
Congenital diaphragmatic hernia (CDH) is a developmental discontinuity of the diaphragm. It allows abdominal viscera to herniate into the chest and leads to lung hypoplasia. Congenital diaphragmatic hernia is one of the most severe birth defects, with extremely high neonatal mortality. This paper presents a review of the available literature on prenatal diagnosis, management and treatment options for CDH. In selected cases, a prenatal procedure to improve neonatal survival is possible. The authors of this manuscript believe their work might contribute to a better understanding of congenital diaphragmatic hernia and patient selection for the FETO (fetal endoscopic tracheal occlusion) surgery or expectant management.
Keywords: congenital diaphragmatic herniaFETO proceduretracheal balloon occlusionlung hypoplasia
References
- Wynn J, Yu L, Chung WK. Genetic causes of congenital diaphragmatic hernia. Semin Fetal Neonatal Med. 2014; 19(6): 324–330.
- Deprest JA, Nicolaides K, Gratacos E. Fetal surgery for congenital diaphragmatic hernia is back from never gone. Fetal. Diagn. Ther. 2011; 29(1): 6–17.
- Slavotinek AM. The genetics of common disorders - congenital diaphragmatic hernia. Eur J Med Genet. 2014; 57(8): 418–423.
- Beurskens LW, Schrijver LH, Tibboel D, et al. Dietary vitamin A intake below the recommended daily intake during pregnancy and the risk of congenital diaphragmatic hernia in the offspring. Birth Defects Res. Part A Clin. Mol. Teratol. 2013; 97(1): 60–66.
- Enns GM, Cox VA, Goldstein RB, et al. Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review. Am. J. Med. Genet. 1998; 79(3): 215–225, doi: 10.1002/(sici)1096-8628(19980923)79:3<215::aid-ajmg13>3.3.co;2-l.
- Keijzer R, Puri P. Congenital diaphragmatic hernia. Semin. Pediatr. Surg. 2010; 19(3): 180–185.
- Montedonico S, Sugimoto K, Felle P, et al. Prenatal treatment with retinoic acid promotes pulmonary alveologenesis in the nitrofen model of congenital diaphragmatic hernia. J. Pediatr. Surg. 2008; 43(3): 500–507.
- Kozenko M, Grynspan D, Oluyomi-Obi T, et al. Potential teratogenic effects of allopurinol: a case report. Am. J. Med. Genet. A. 2011; 155A(9): 2247–2252.
- Graham G, Devine PC. Antenatal diagnosis of congenital diaphragmatic hernia. Semin. Perinatol. 2005; 29(2): 69–76.
- Pober BR. Genetic aspects of human congenital diaphragmatic hernia. Clin. Genet. 2008; 74(1): 1–15.
- Gibbs DL, Rice HE, Farrell JA, et al. Familial diaphragmatic agenesis: an autosomal-recessive syndrome with a poor prognosis. J. Pediatr. Surg. 1997; 32(2): 366–368.
- Pober BR, Lin A, Russell M, et al. Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program. Am. J. Med. Genet. A. 2005; 138A(2): 81–88.
- Benachi A, Cordier AG, Cannie M, et al. Advances in prenatal diagnosis of congenital diaphragmatic hernia. Semin Fetal Neonatal Med. 2014; 19(6): 331–337.
- Daskalakis G, Anastasakis E, Souka A, et al. First trimester ultrasound diagnosis of congenital diaphragmatic hernia. J. Obstet. Gynaecol. Res. 2007; 33(6): 870–872.
- Sananes N, Britto I, Akinkuotu AC, et al. Improving the Prediction of Neonatal Outcomes in Isolated Left-Sided Congenital Diaphragmatic Hernia by Direct and Indirect Sonographic Assessment of Liver Herniation. J Ultrasound Med. 2016; 35(7): 1437–1443.
- Rossi A, Delabaere A, Delmas-Laurichesse H, et al. The challenge of prenatal identification of congenital diaphragmatic hernia in the context of hydrops. Eur. J. Obstet. Gynecol. Reprod. Biol. 2014; 182: 238–239.
- Fisher JC, Jefferson RA, Arkovitz MS, et al. Redefining outcomes in right congenital diaphragmatic hernia. J. Pediatr. Surg. 2008; 43(2): 373–379.
- Deprest J, Brady P, Nicolaides K, 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): 338–348.
- Jani J, Peralta CFA, Benachi A, et al. Assessment of lung area in fetuses with congenital diaphragmatic hernia. Ultrasound Obstet Gynecol. 2007; 30(1): 72–76.
- Antolin E, Rodriguez R, Encinas JL, Herrero B, Muner M, Perez R, Ortiz L, Bartha JL: Patterns of fetal lung growth in fetuses with isolated left-sided congenital diaphragmatic hernia. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstet 2016;29:2442-2449.
- Jani JC, Benachi A, Nicolaides KH, et al. Antenatal-CDH-Registry group. Prenatal prediction of neonatal morbidity in survivors with congenital diaphragmatic hernia: a multicenter study. Ultrasound Obstet Gynecol. 2009; 33(1): 64–69.
- Jani J, Nicolaides KH, Keller RL, et al. Antenatal-CDH-Registry Group. Observed to expected lung area to head circumference ratio in the prediction of survival in fetuses with isolated diaphragmatic hernia. Ultrasound Obstet Gynecol. 2007; 30(1): 67–71.
- Hedrick HL, Danzer E, Merchant A, et al. Liver position and lung-to-head ratio for prediction of extracorporeal membrane oxygenation and survival in isolated left congenital diaphragmatic hernia. Am. J. Obstet. Gynecol. 2007; 197(4): 422.e1–422.e4.
- Basta AM, Lusk LA, Keller RL, et al. Fetal Stomach Position Predicts Neonatal Outcomes in Isolated Left-Sided Congenital Diaphragmatic Hernia. Fetal. Diagn. Ther. 2016; 39(4): 248–255.
- Cordier AG, Jani JC, Cannie MM, 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): 155–161.
- Russo FM, Eastwood MP, Keijzer R, et al. Lung size and liver herniation predict the need for extra corporeal membrane oxygenation but not pulmonary hypertension in isolated congenital diaphragmatic hernia: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2016 [Epub ahead of print].
- Harrison MR, Bressack MA, Churg AM, et al. Correction of congenital diaphragmatic hernia in utero. II. Simulated correction permits fetal lung growth with survival at birth. Surgery. 1980; 88(2): 260–268.
- Khan PA, Cloutier M, Piedboeuf B. Tracheal occlusion: a review of obstructing fetal lungs to make them grow and mature. Am J Med Genet C Semin Med Genet. 2007; 145C(2): 125–138.
- Danzer E, Davey MG, Kreiger PA, et al. Fetal tracheal occlusion for severe congenital diaphragmatic hernia in humans: a morphometric study of lung parenchyma and muscularization of pulmonary arterioles. J. Pediatr. Surg. 2008; 43(10): 1767–1775.
- Doné E, Gratacos E, Nicolaides KH, et al. Predictors of neonatal morbidity in fetuses with severe isolated congenital diaphragmatic hernia undergoing fetoscopic tracheal occlusion. Ultrasound Obstet Gynecol. 2013; 42(1): 77–83.
- Al-Maary J, Eastwood MP, Russo FM, et al. Fetal Tracheal Occlusion for Severe Pulmonary Hypoplasia in Isolated Congenital Diaphragmatic Hernia: A Systematic Review and Meta-analysis of Survival. Ann. Surg. 2016; 264(6): 929–933.
- Deprest J, Breysem L, Gratacos E, et al. Tracheal side effects following fetal endoscopic tracheal occlusion for severe congenital diaphragmatic hernia. Pediatr Radiol. 2010; 40(5): 670–673.
- Davey M, Shegu S, Danzer E, et al. Pulmonary arteriole muscularization in lambs with diaphragmatic hernia after combined tracheal occlusion/glucocorticoid therapy. Am. J. Obstet. Gynecol. 2007; 197(4): 381.e1–381.e7.
- Lally KP. Extracorporeal membrane oxygenation in patients with congenital diaphragmatic hernia. Semin. Pediatr. Surg. 1996; 5(4): 249–255.
- Mugford M, Elbourne D, Field D. Extracorporeal membrane oxygenation for severe respiratory failure in newborn infants. Cochrane Database Syst Rev. 2008(3): CD001340.
