Pediatric Congenital Diaphragmatic Hernia Follow-up
- Author: Robin H Steinhorn, MD; Chief Editor: Ted Rosenkrantz, MD more...
Further Outpatient Care
Failure to thrive is common, and, in some studies, more than 50% of patients are below the 25th percentile for height and weight during the first year of life. In one study, one third of infants required gastrostomy tube placement to improve caloric intake. The need for supplemental oxygen at the time of discharge is a significant predictor for subsequent growth failure. Possible causes include increased caloric requirements due to chronic lung disease, oral aversion after prolonged intubation, poor oral feeding due to neurologic delays, and gastroesophageal reflux.
Because of the risk for CNS insult and sensorineural hearing loss, infants should be closely monitored for the first 3 years of life, preferably in a specialty follow-up clinic. These risks are particularly high in infants who are discharged home on supplemental oxygen. Reassess hearing at age 6 months (and later if indicated) because late sensorineural hearing loss occurs in approximately 40% of patients.
Even if a child has no major neurodevelopmental delays, he or she should be evaluated prior to entering school to determine if any subtle deficits may predispose the child to learning disabilities.
Further Inpatient Care
Pulmonary care in congenital diaphragmatic hernia (CDH)
Severely affected infants have chronic lung disease. These infants may require prolonged therapy with supplemental oxygen and diuretics, an approach similar to that for bronchopulmonary dysplasia. The use of steroids, particularly high doses for prolonged periods, is controversial and may hinder appropriate lung and brain development.
Late pulmonary hypertension has been successfully treated with low-dose inhaled nitric oxide. This therapy can be delivered via nasal cannula following extubation. In this setting, the delivered dose is diluted because of entrainment of room air. In a recent report, the median duration of treatment using inhaled nitric oxide delivered via nasal cannula was 17 days.
Case reports are now emerging regarding the use of other pulmonary vasodilators, such as sildenafil and endothelin receptor antagonists. Systemic study is required to assess the sustained benefit.
Following recovery, a neurologist or developmental pediatrician should perform an examination that includes an evaluation for CNS injury using head CT scanning or MRI.
The incidence of hearing loss appears to be particularly high in patients with congenital diaphragmatic hernia (approximately 40% of infants). An automated hearing test should be performed prior to discharge.
The incidence of significant gastroesophageal reflux is very high in patients who survive congenital diaphragmatic hernia, and studies document an incidence of 45-85%.
The need for a diaphragmatic patch may be a significant predictor of gastroesophageal reflux. Severe reflux may result in chronic aspiration and is, therefore, aggressively treated.
Although most infants can be medically treated with H2-blockers or proton pump inhibitors in combination with a motility agent such as metoclopramide, surgical intervention is sometimes required.
Guidelines for ECMO consultation are available from the ELSO. Baseline criteria for ECMO consideration include evaluation for risk factors because of the invasive nature of the therapy and need for heparinization. Although criteria are center-specific, infants should generally be older than 34 weeks' gestation, have a weight greater than 2000 g, have no major intracranial hemorrhage on cranial sonography, have been on mechanical ventilator support for fewer than 10-14 days, and have no evidence for lethal congenital anomalies or inoperable cardiac disease.
Timing is always difficult, but referral and transfer should occur prior to refractory hypoxia. Early consultation and discussion with the ECMO center is strongly recommended.
Overall reported survival varies among institutions. Remember that a single institution's results may look better than those provided by population-based studies because of case-selection biases. When all resources, including ECMO, are provided, reported survival rates range from 40-90%. The ELSO registry reports the ECMO survival rate at 52%.
As noted, survivors are at risk for significant long-term morbidity, including chronic lung disease, growth failure, gastroesophageal reflux, hearing loss, and neurodevelopmental delay. The risk appears to be highest in infants with severe lung disease (need for long term supplemental oxygen), need for patch closure of the diaphragm, and need for gastrostomy tube feeding.
Vijfhuize S, Schaible T, Kraemer U, Cohen-Overbeek TE, Tibboel D, Reiss I. Management of pulmonary hypertension in neonates with congenital diaphragmatic hernia. Eur J Pediatr Surg. 2012 Oct. 22(5):374-83. [Medline].
Harrison MR, Keller RL, Hawgood SB, et al. A randomized trial of fetal endoscopic tracheal occlusion for severe fetal congenital diaphragmatic hernia. N Engl J Med. 2003 Nov 13. 349(20):1916-24. [Medline].
Jelin E, Lee H. Tracheal occlusion for fetal congenital diaphragmatic hernia: the US experience. Clin Perinatol. 2009 Jun. 36(2):349-61, ix. [Medline].
Gross RE. Congenital hernia of the diaphragm. Am J Dis Child. 1946. 71:579-592.
Areechon W, Reid L. Hypoplasia of the lung associated with congenital diaphragmatic hernia. Br Med J. 1963. i:230-3.
Klaassens M, de Klein A, Tibboel D. The etiology of congenital diaphragmatic hernia: still largely unknown?. Eur J Med Genet. 2009 Sep-Oct. 52(5):281-6. [Medline].
Jandus P, Savioz D, Purek L, Frey JG, Schnyder JM, Tschopp JM. [Bochdalek hernia: a rare cause of dyspnea and abdominal pain in adults]. Rev Med Suisse. 2009 May 13. 5(203):1061-4. [Medline].
Fisher JC, Haley MJ, Ruiz-Elizalde A, Stolar CJ, Arkovitz MS. Multivariate model for predicting recurrence in congenital diaphragmatic hernia. J Pediatr Surg. 2009 Jun. 44(6):1173-9; discussion 1179-80. [Medline].
Keller RL, Tacy TA, Hendricks-Munoz K, et al. Congenital diaphragmatic hernia: endothelin-1, pulmonary hypertension, and disease severity. Am J Respir Crit Care Med. 2010 Aug 15. 182(4):555-61. [Medline]. [Full Text].
Sluiter I, Veenma D, van Loenhout R, Rottier R, de Klein A, Keijzer R, et al. Etiological and pathogenic factors in congenital diaphragmatic hernia. Eur J Pediatr Surg. 2012 Oct. 22(5):345-54. [Medline].
Clugston RD, Zhang W, Alvarez S, De Lera AR, Greer JJ. Understanding Abnormal Retinoid Signaling as a Causative Mechanism in Congenital Diaphragmatic Hernia. Am J Respir Cell Mol Biol. 2009 May 15. [Medline].
Mitanchez D. [Neonatal prognosis of congenital diaphragmatic hernia]. Arch Pediatr. 2009 Jun. 16(6):888-90. [Medline].
Keller RL. Antenatal and postnatal lung and vascular anatomic and functional studies in congenital diaphragmatic hernia: implications for clinical management. Am J Med Genet C Semin Med Genet. 2007 May 15. 145C(2):184-200. [Medline].
Bryner BS, West BT, Hirschl RB, et al. Congenital diaphragmatic hernia requiring extracorporeal membrane oxygenation: does timing of repair matter?. J Pediatr Surg. 2009 Jun. 44(6):1165-71; discussion 1171-2. [Medline].
Deprest JA, Gratacos E, Nicolaides K, et al. Changing perspectives on the perinatal management of isolated congenital diaphragmatic hernia in Europe. Clin Perinatol. 2009 Jun. 36(2):329-47, ix. [Medline].
Walsh-Sukys MC, Tyson JE, Wright LL, et al. Persistent pulmonary hypertension of the newborn in the era before nitric oxide: practice variation and outcomes. Pediatrics. 2000 Jan. 105(1 Pt 1):14-20. [Medline].
Fliman PJ, deRegnier RA, Kinsella JP, Reynolds M, Rankin LL, Steinhorn RH. Neonatal extracorporeal life support: impact of new therapies on survival. J Pediatr. 2006 May. 148(5):595-9. [Medline].
Gentili A, Giuntoli L, Bacchi Reggiani ML, Masciopinto F, Lima M, Baroncini S. Neonatal congenital diaphragmatic hernia: respiratory and blood-gas derived indices in choosing surgical timing. Minerva Anestesiol. 2012 Oct. 78(10):1117-25. [Medline].
Peetsold M, Huisman J, Hofman VE, Heij HA, Raat H, Gemke RJ. Psychological outcome and quality of life in children born with congenital diaphragmatic hernia. Arch Dis Child. 2009 Jun 15. [Medline].
Albanese CT, Lopoo J, Goldstein RB, et al. Fetal liver position and perinatal outcome for congenital diaphragmatic hernia. Prenat Diagn. 1998 Nov. 18(11):1138-42. [Medline].
Bohn DJ, Pearl R, Irish MS, Glick PL. Postnatal management of congenital diaphragmatic hernia. Clin Perinatol. 1996 Dec. 23(4):843-72. [Medline].
Clark RH, Hardin WD Jr, Hirschl RB, et al. Current surgical management of congenital diaphragmatic hernia: a report from the Congenital Diaphragmatic Hernia Study Group. J Pediatr Surg. 1998 Jul. 33(7):1004-9. [Medline].
Cortes RA, Keller RL, Townsend T, et al. Survival of severe congenital diaphragmatic hernia has morbid consequences. J Pediatr Surg. 2005 Jan. 40(1):36-45; discussion 45-6. [Medline].
Finer NN, Tierney A, Etches PC, Peliowski A, Ainsworth W. Congenital diaphragmatic hernia: developing a protocolized approach. J Pediatr Surg. 1998 Sep. 33(9):1331-7. [Medline].
Garred P, Madsen HO, Balslev U, et al. Susceptibility to HIV infection and progression of AIDS in relation to variant alleles of mannose-binding lectin. Lancet. 1997 Jan 25. 349(9047):236-40. [Medline].
Kapur P, Holm BA, Irish MS, Patel A, Glick PL. Tracheal ligation and mechanical ventilation do not improve the antioxidant enzyme status in the lamb model of congenital diaphragmatic hernia. J Pediatr Surg. 1999 Feb. 34(2):270-2. [Medline].
Kays DW, Langham MR Jr, Ledbetter DJ, Talbert JL. Detrimental effects of standard medical therapy in congenital diaphragmatic hernia. Ann Surg. 1999 Sep. 230(3):340-8; discussion 348-51. [Medline]. [Full Text].
Kehl S, Becker L, Eckert S, Weiss C, Schaible T, Neff KW, et al. Prediction of mortality and the need for neonatal extracorporeal membrane oxygenation therapy by 3-dimensional sonography and magnetic resonance imaging in fetuses with congenital diaphragmatic hernias. J Ultrasound Med. 2013 Jun. 32(6):981-8. [Medline].
Kinsella JP, Parker TA, Ivy DD, Abman SH. Noninvasive delivery of inhaled nitric oxide therapy for late pulmonary hypertension in newborn infants with congenital diaphragmatic hernia. J Pediatr. 2003 Apr. 142(4):397-401. [Medline].
Lally KP. Extracorporeal membrane oxygenation in patients with congenital diaphragmatic hernia. Semin Pediatr Surg. 1996 Nov. 5(4):249-55. [Medline].
Lally KP, Breaux CW Jr. A second course of extracorporeal membrane oxygenation in the neonate--is there a benefit?. Surgery. 1995 Feb. 117(2):175-8. [Medline].
Lally KP, Lally PA, Langham MR, et al. Surfactant does not improve survival rate in preterm infants with congenital diaphragmatic hernia. J Pediatr Surg. 2004 Jun. 39(6):829-33. [Medline].
Langham MR Jr, Kays DW, Ledbetter DJ, Frentzen B, Sanford LL, Richards DS. Congenital diaphragmatic hernia. Epidemiology and outcome. Clin Perinatol. 1996 Dec. 23(4):671-88. [Medline].
[Guideline] Maisch B, Seferovic PM, Ristic AD, et al. Guidelines on the diagnosis and management of pericardial diseases. European Society of Cardiology. 2004.
NINOS. Inhaled nitric oxide and hypoxic respiratory failure in infants with congenital diaphragmatic hernia. The Neonatal Inhaled Nitric Oxide Study Group (NINOS). Pediatrics. 1997 Jun. 99(6):838-45. [Medline]. [Full Text].
Nobuhara KK, Lund DP, Mitchell J, Kharasch V, Wilson JM. Long-term outlook for survivors of congenital diaphragmatic hernia. Clin Perinatol. 1996 Dec. 23(4):873-87. [Medline].
Nobuhara KK, Wilson JM. Pathophysiology of congenital diaphragmatic hernia. Semin Pediatr Surg. 1996 Nov. 5(4):234-42. [Medline].
O'Toole SJ, Irish MS, Holm BA, Glick PL. Pulmonary vascular abnormalities in congenital diaphragmatic hernia. Clin Perinatol. 1996 Dec. 23(4):781-94. [Medline].
Reickert CA, Hirschl RB, Atkinson JB, et al. Congenital diaphragmatic hernia survival and use of extracorporeal life support at selected level III nurseries with multimodality support. Surgery. 1998 Mar. 123(3):305-10. [Medline].
Slavotinek AM. The genetics of congenital diaphragmatic hernia. Semin Perinatol. 2005 Apr. 29(2):77-85. [Medline].
Steinhorn RH, Kriesmer PJ, Green TP, McKay CJ, Payne NR. Congenital diaphragmatic hernia in Minnesota. Impact of antenatal diagnosis on survival. Arch Pediatr Adolesc Med. 1994 Jun. 148(6):626-31. [Medline].
Stolar CJ. What do survivors of congenital diaphragmatic hernia look like when they grow up?. Semin Pediatr Surg. 1996 Nov. 5(4):275-9. [Medline].
Van Meurs K. Is surfactant therapy beneficial in the treatment of the term newborn infant with congenital diaphragmatic hernia?. J Pediatr. 2004 Sep. 145(3):312-6. [Medline].
Weinstein S, Stolar CJ. Newborn surgical emergencies. Congenital diaphragmatic hernia and extracorporeal membrane oxygenation. Pediatr Clin North Am. 1993 Dec. 40(6):1315-33. [Medline].
Wilcox DT, Irish MS, Holm BA, Glick PL. Pulmonary parenchymal abnormalities in congenital diaphragmatic hernia. Clin Perinatol. 1996 Dec. 23(4):771-9. [Medline].
Wilson JM, Lund DP, Lillehei CW, Vacanti JP. Congenital diaphragmatic hernia--a tale of two cities: the Boston experience. J Pediatr Surg. 1997 Mar. 32(3):401-5. [Medline].