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Chapter 19.1 - Congenital diaphragmatic hernia

Pathophysiology

from Section 2 - Fetal disease

Published online by Cambridge University Press:  05 February 2013

By
Nicola A. Lewis  and
Philip L. Glick
Edited by
Mark D. Kilby ,
Anthony Johnson  and
Dick Oepkes
Mark D. Kilby
Affiliation:
Department of Fetal Medicine, University of Birmingham
Anthony Johnson
Affiliation:
Baylor College of Medicine, Texas
Dick Oepkes
Affiliation:
Department of Obstetrics, Leiden University Medical Center
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Summary

Introduction

Congenital diaphragmatic hernia (CDH) occurs in 1 in 2000 to 1 in 3800 births [1, 2]. Prenatal diagnosis carries a 2–4 times greater mortality perhaps related to larger defects and more severe pulmonary hypoplasia or associated anomalies in these infants. For fetuses identified prenatally, 25–70% are born alive of which approximately 55% survive to discharge [1–3]. Seventy percent of postnatal deaths occur within the first 24 hours [4].

Major non-pulmonary malformations occur in 15–72% of prenatally detected cases. This is associated with a fourfold increase in mortality rate compared to infants with isolated CDH; 95% of stillbirths and 60% of infants dying within the first 24 hours have non-pulmonary major malformations [3].

The diaphragmatic defect

The most common diaphragmatic defect is the posterolateral defect (Bochdalek hernia ). Anterior defects (Morgagni hernias) or total agenesis of the hemi-diaphragm are also seen. Diaphragmatic defects occur on the let in 80–90%, on the right in 5–15%, and bilateral or anterior Morgagni hernias in 2–5% of infants [3].

Keywords

visceral herniationpulmonary hypoplasiapulmonary hypertensionsurfactant deficiencylung injurycongenital diaphragmatic hernialung immaturity
Type
Chapter
Information
Fetal Therapy
Scientific Basis and Critical Appraisal of Clinical Benefits
 , pp. 370 - 375
Publisher: Cambridge University Press
Print publication year: 2012

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References

Levison, J, Halliday, R, Holland, A, et al. A population based study of congenital diaphragmatic hernia outcome in New South Wales and the Australian Capital Territory, Australia, 1992–2001. J Pediatr Surg 2006;41:1049–53.Google Scholar
Colvin, J, Bower, C, Dickinson, J, et al. Outcomes of congenital diaphragmatic hernia: a population based study in Western Australia. Pediatrics 2005;116:e356–63.Google Scholar
Skari, H, Bjorland, K, Haugen, G, et al. Congenital diaphragmatic hernia a meta-analysis of mortality factors. J Pediatr Surg 2000;35:1187–97.Google Scholar
Stege, G, Fenton, A, Jaffray, B. Nihilism in the 1990s: The true mortality of congenital diaphragmatic hernia. Pediatrics 2003;112:532–5.Google Scholar
Iritani, I. Experimental study on embryogenesis of congenital diaphragmatic hernia. Anat Embryol (Berl) 1984;169:133–9.Google Scholar
Wilson, JG, Roth, CB, Warkany, J. An analysis of the syndrome of malformations induced by maternal vitamin A deficiency. Effects of restoration of vitamin A at different times in gestation. Am J Anat 1953;92:189–217.Google Scholar
Kluth, D, Kangah, R, Reich, P, et al. Nitrofen-induced diaphragmatic hernias in rats: an animal model. J Pediatr Surg 1990;25:850–4.Google Scholar
Major, D, Cadenas, M, Fournier, L, et al. Retinol status of newborn infants with congenital diaphragmatic hernia. Pediatr Surg Int 1998;13:547–9.Google Scholar
Beurskens, LW, Tibboel, D, Lindemans, J, et al. Retinol status of newborn infants is associated with congenital diaphragmatic hernia. Pediatrics 2010;126:712–20.Google Scholar
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;88:260–8.Google Scholar
Sakurai, Y, Azarow, K, Cutz, E, et al. Pulmonary barotrauma in congenital diaphragmatic hernia. J Pediatr Surg 1999;34:1813–17.Google Scholar
Molenaar, JC, Bos, AP, Hazebroek, FW, et al. Congenital diaphragmatic hernia, what a defect? J Pediatr Surg 1991;26:248–54.Google Scholar
O’Rourke, PP, Lillehei, CW, Crone, RK, et al. The effect of extracorporeal membrane oxygenation on the survival of neonates with high-risk congenital diaphragmatic hernia: 45 cases from one institution. J Pediatr Surg 1991;26:147–52.Google Scholar
Muratore, CS, Kharasch, V, Lund, DP, et al. Pulmonary morbidity in 100 survivors of congenital diaphragmatic hernia monitored in a multidisciplinary clinic. J Pediatr Surg 2001;36:133–40.Google Scholar
Fridovich, I, Freeman, B. Antioxidant defenses in the lung. Ann Rev Physiol 1986;48:693–702.Google Scholar
Frank, L, Bucher, J, Roberts, R. Oxygen toxicity in neonatal and adult animals of various species. J Appl Physiol 1978;45:699–704.Google Scholar
Tenbrick, R, Sluiter, W, Silveri, F, et al. Effect of artificial ventilation on pulmonary antioxidant enzyme activities in a congenital diaphragmatic hernia rat model. Adv Exp Med Biol 1992;317:363–70.Google Scholar
Kapur, P, Holm, B, Irish, M, et al. Tracheal ligation and mechanical ventilation do not improve the antioxidant enzyme status in the lamb model of congenital diaphragmatic hernia. J Pediatr Surg 1999;34:270–7.Google Scholar
McCabe, AJ, Dowhy, M, Holm, BA, et al. Myeloperoxidase activity as a lung injury marker in the lamb model of congenital diaphragmatic hernia. J Pediatr Surg 2001;36:334–7.Google Scholar
Kitagawa, M, Hislop, A, Boyden, EA, et al. Lung hypoplasia in congenital diaphragmatic hernia; A quantitative study of airway, artery and alveolar development. Br J Surg 1971;58:342–6.Google Scholar
Levin, DL. Morphologic analysis of the pulmonary vascular bed in congenital left sided diaphragmatic hernia. J Pediatr 1978;92:805–9.Google Scholar
Ting, A, Glick, PL, Wilcox, DT, et al. Alveolar vascularization of the lung in a lamb model of congenital diaphragmatic hernia. Am J Respir Crit Care Med 1998;157:31–4.Google Scholar
Geggel, RL, Murphy, JD, Langleben, D, et al. Congenital diaphragmatic hernia; arterial structural changes and persistent pulmonary hypertension after surgical repair. J Pediatr 1985;107:457–64.Google Scholar
O’Toole, S, Karamanoukian, HL, Morin, FC, et al. Surfactant decreases pulmonary vascular resistance and increases pulmonary blood flow in the fetal lamb model of congenital diaphragmatic hernia. J Pediatr Surg 1996;31:507–11.Google Scholar
Irish, MS, Glick, PL, Russell, J, et al. Contractile properties of intralobar pulmonary arteries and veins in the fetal lamb model of congenital diaphragmatic hernia. J Pediatr Surg 1998;33:921–8.Google Scholar
Karamanoukian, HL, Peay, T, Love, JE, et al. Decreased pulmonary nitric oxide synthase activity in the rat model of congenital diaphragmatic hernia. J Pediatr Surg 1996;31:1016–19.Google Scholar
Shehata, S, Sharma, H, Mooi, W, et al. Pulmonary hypertension in human newborns with congenital diaphragmatic hernia is associated with decreased vascular expression of nitric-oxide synthase. Cell Biochem Biophys 2006;44:147–55.Google Scholar
Solari, V, Piotrowska, A, Puri, P. Expression of heme oxygenase-1 and endothelial nitric oxide synthase in the lung of newborns with congenital diaphragmatic hernia and persistent pulmonary hypertension. J Pediatr Surg 2003;38:808–13.Google Scholar
Thebaud, B, Azancot, A, de Lagausie, P, et al. Congenital diaphragmatic hernia: antenatal prognostic factors. Does cardiac ventricular disproportion in utero predict outcome and pulmonary hypoplasia? Intensive Care Med 1997;23:10062–9.Google Scholar
Vogel, M, McElhinney, DB, Marcus, E, et al. Significance and outcome of left heart hypoplasia in fetal congenital diaphragmatic hernia. Ultrasound Obstet Gynecol 2010;35:310–17.Google Scholar
Glick, PL, Stannard, VA, Leach, CL, et al. Pathophysiology of congenital diaphragmatic hernia II: the fetal lamb CDH model is surfactant deficient. J Pediatr Surg 1992;27:382–8.Google Scholar
Wilcox, DT, Glick, PL, Karamanoukian, HL, et al. Contributions by individual lungs to the surfactant status in congenital diaphragmatic hernia. Pediatr Res 1997;41:686–91.Google Scholar
Wilcox, DT, Glick, PL, Karamanoukian, HL, et al. Pathophysiology of congenital diaphragmatic hernia XII: amniotic fluid lecithin/sphingomyelin ratio and phosphatidylglycerol concentrations do not predict surfactant status in congenital diaphragmatic hernia. J Pediatr Surg 1995;30:410–12.Google Scholar
Wilcox, DT, Glick, PL, Karamanoukian, H, et al. Pathophysiology of congenital diaphragmatic hernia. V. Effect of exogenous surfactant therapy on gas exchange and lung mechanics in the lamb congenital diaphragmatic hernia model. J Pediatr 1994;124:289–93.Google Scholar
O’Toole, SJ, Karamanoukian, HL, 3rd, Morin FC, et al. Surfactant decreases pulmonary vascular resistance and increases pulmonary blood flow in the fetal lamb model of congenital diaphragmatic hernia. J Pediatr Surg 1996;31:507–11.Google Scholar
O’Toole, SJ, Karamanoukian, HL, Sharma, A, et al. Surfactant rescue in the fetal lamb model of congenital diaphragmatic hernia. J Pediatr Surg 1996;31:1105–9.Google Scholar
Janssen, DJ, Zimmermann, LJ, Cogo, P, et al. Decreased surfactant phosphatidylcholine synthesis in neonates with congenital diaphragmatic hernia during extracorporeal membrane oxygenation. Intensive Care Med 2009;35:1754–60.Google Scholar
Janssen, DJ, Tibboel, D, Carnielli, VP, et al. Surfactant phosphatidylcholine pool size in human neonates with congenital diaphragmatic hernia requiring ECMO. J Pediatr 2003;142:247–52.Google Scholar
Cogo, PE, Zimmermann, LJ, Rosso, F, et al. Surfactant synthesis and kinetics in infants with congenital diaphragmatic hernia. Am J Respir Crit Care Med 2002;166:154–8.Google Scholar
Glick, PL, Leach, CL, Besner, GE, et al. Pathophysiology of congenital diaphragmatic hernia. III: Exogenous surfactant therapy for the high-risk neonate with CDH. J Pediatr Surg 1992;27:866–9.Google Scholar
Lotze, A, Knight, GR, Anderson, KD, et al. Surfactant (beractant) therapy for infants with congenital diaphragmatic hernia on ECMO: evidence of persistent surfactant deficiency. J Pediatr Surg 1994;29:407–12.Google Scholar

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