Congenital Diaphragmatic Hernia and Eventration
Congenital diaphragmatic hernia (CDH) has an incidence of 1 in 2500 live births in the UK. CDH is a defect in the fetal diaphragm which allows the contents of the abdominal cavity to protrude into the thorax. CDH may be associated with other major anomalies. The defect may be diagnosed in the fetus, newborn or older child. Some forms of CDH may remain ‘asymptomatic’ for several years and not present until later life or adulthood. CDH is most often a sporadic and isolated birth defect (70%) though a number of gene mutations have been identified, e.g. chromosome 4p, 8q, 15q. Links have been made to environmental factors such as thalidomide, nitrofen and vitamin A deficiency. CDH may also be associated with the chromosomal disorders trisomy(s) 13, 18 and 21 including the inherited conditions—Fryn’s and Pallister Killian syndromes.
KeywordsCDH Fetus Pulmonary hypoplasia Pulmonary hypertension Associated anomalies Surgery Fetal surgery Outcomes
- 12.Spaggiari E, Stirnemann JJ, Sonigo P, Khen-Dunlop N, De Saint Blanquat L, et al. Prenatal prediction of pulmonary arterial hypertension in congenital diaphragmatic hernia. Ultrasound Obstet Gynecol. 2014 June 27. doi: https://doi.org/10.1002/uog13450.
- 15.DiFiore JW, Fauza DO, Slavin R, Peters CA, Fackler JC, Wilson JM. Experimental fetal tracheal ligation reverses the structural and physiological effects of pulmonary hypoplasia in congenital diaphragmatic hernia. J Pediatr. 1994;29(2):248–56.Google Scholar
- 21.Snoek KG, Capolupo I, van Rosmalen J, et al. Conventional mechanical ventilation versus high-frequency oscillatory ventilation for congenital diaphragmatic hernia: a randomised clinical trial (The VICI-trial). Ann Surg. 2015 Dec 16 [Epub ahead of print].Google Scholar
- 24.Mugford M, Elbourne D, Field D. Extracorporeal membrane oxygenation for severe respiratory failure in newborn infants. Cochrane Database Syst Rev. 2008;16:CD001340.Google Scholar
- 25.Finer NN, Barrington KJ. Nitric oxide for respiratory failure in infants born at or near term. Cochrane Database Syst Rev. 2006;18:CD000399.Google Scholar
- 27.Bialkowski A, Moenkemeyer F, Patel N. Intravenous sildenafil in the management of pulmonary hypertension associated with congenital diaphragmatic hernia. Eur J Pediatr Surg. 2013 Oct 25 [Epub ahead of print].Google Scholar
- 44.Borruto FA, Ferreira CG, Kaselas C, Schneider A, Lacreuse I, Kauffmann I, Moog R, Becmeur F. Thoracoscopic treatment of congenital diaphragmatic eventration in children: lessons learned after 15 years of experience. Eur J Pediatr Surg. 2014;24:328–31.Google Scholar