Congenital Diaphragmatic Hernia (CDH)

ICD-10

Q79.0, Congenital diaphragmatic hernia

Description

Congenital diaphragmatic hernia (CDH) is a disorder of abnormal diaphragmatic development that leads to herniation of intra-abdominal content into the thoracic space. This results in underdevelopment of the lungs and pulmonary vasculature with complications of pulmonary hypertension and cardiopulmonary dysfunction. Neonates with CDH are managed postnatally in the neonatal intensive care unit (NICU) and undergo surgical repair. Mechanical ventilation and extracorporeal membrane oxygenation (ECMO) are commonly required. After NICU discharge, they are at risk of persistent pulmonary arterial hypertension, failure to thrive, recurrent herniation, scoliosis, neurocognitive delays, and other co-morbidities. The medical home often needs to manage home supplemental oxygen, feeding tubes, and follow-up care coordination with multiple subspecialists.

Prevalence

Prevalence of CDH is estimated to be 1:3000 live births. [Hollinger: 2017]

Prognosis

Prognosis is challenging to predict and depends on size and side of the hernia (right side often worse than left), degree of pulmonary hypoplasia, prematurity, concurrent chromosomal or anatomic anomalies, and other factors. [Hollinger: 2017] Postnatal survival is estimated to be 70-80%. [Hollinger: 2017]

Practice Guidelines

Lally KP, Engle W.
Postdischarge follow-up of infants with congenital diaphragmatic hernia.
Pediatrics. 2008;121(3):627-32. PubMed abstract
This guideline was reaffirmed by the American Academy of Pediatrics in 2011.

Screening

Screening prior to NICU discharge:
  • Newborn screening
  • Hearing screening
  • Critical congenital heart disease (CCHD) screening if the infant did not have an echocardiogram while in the NICU
  • Car seat testing

Management

Pulmonary dysfunction
Infants with congenital diaphragmatic hernia frequently have persistent pulmonary hypertension and chronic lung disease at time of discharge. [Lally: 2008] Often, they are on supplemental oxygen and cardiorespiratory medications, such as sildenafil, bosentan, diuretics and/or inhaled corticosteroids with bronchodilators. Cardiology or pulmonology usually manage dose titration. Persistent underlying lung abnormalities result in ongoing risk for respiratory infections; palivizumab prophylaxis should be considered during their first 2 years of life. [Resch: 2018] [American: 2014] Children with CDH are also at risk for mild to moderate obstructive airway disease with a reactive component that may benefit from bronchodilator therapy. [Trachsel: 2005] [Muratore: 2001]
Gastroesophageal reflux
The prevalence of gastroesophageal reflux disease (GERD) is 35-53%; some patients may be asymptomatic despite having reflux esophagitis. [Arcos-Machancoses: 2018] [Peetsold: 2010] [Morandi: 2016] Many infants with CDH are discharged home on anti-reflux medication or may require such medications within the first few years of life, especially if there is concern that reflux is interfering with adequate nutrition and weight gain. Despite concern about the risk of Barrett’s esophagus and esophageal adenosquamous carcinoma in adult survivors [Morandi: 2016] [Steven: 2007], prophylactic fundoplication has not been shown to be of benefit and is not currently recommended. [Maier: 2011] See the Portal's page about Gastroesophageal Reflux Disease for information about treatment.
Feeding difficulties/failure to thrive
Failure to thrive is commonly seen in the CDH pediatric population; 56% of infants are estimated to be less than the 25th percentile for weight in their first year of life. [Muratore: 2001] Poor linear growth is persistent through at least age 12, with decreases seen in both weight and height. [Leeuwen: 2017] This is thought to be secondary to a combination of increased resting energy expenditure, lower gastrointestinal motility, gastroesophageal reflux, and oral aversion. [Leeuwen: 2017] [Haliburton: 2015] Often, neonates with CDH are discharged on increased caloric density formula or human milk; caloric needs will change as the child grows. Tube feedings (nasogastric or jejunal) may be the primary source of nutrition (managed by a gastroenterologist) as the infant works to overcome oral aversion with speech therapists. Feeding Tubes and Gastrostomies provides management information.
Neurocognitive delay and behavioral issues
Language and neuromotor development can be delayed and this may persist throughout childhood, especially in those managed with ECMO. [Danzer: 2011] Neurocognitive outcomes of most children with CDH are in the average range, although the rate of borderline to low intelligence quotient scores is higher than age-matched children. [Friedman: 2008] Symptoms of emotional reactivity and pervasive developmental issues may be present. [Danzer: 2017] Children with CDH are at increased risk for autism (incidence estimated at 11%) and neurobehavioral issues at 5 years of age that may benefit from educational support in school. [Hollinger: 2017] [Lally: 2008] [Danzer: 2017]
Hearing loss
Late-onset sensorineural hearing loss is reported in approximately 50-60% of CDH survivors, secondary to postnatal interventions such as ototoxic medications, neuromuscular blockade, or ECMO. [Robertson: 1998] Repeat hearing screen is recommended every 3 months after birth for the 1st year of life, then every 6-12 months until age 5. See Hearing Loss and Deafness.
Surgical morbidities
Herniation recurrence occurs in about 15% of patients with CDH, with the strongest risk factor being a large defect requiring patch repair. [Jancelewicz: 2013] Patients may be asymptomatic but present with respiratory distress, hemithoracic bowel sounds, a scaphoid abdomen, and/or feeding difficulties. The CDH cohort is also at increased risk for small bowel obstruction, scoliosis, and chest wall deformities. [Jancelewicz: 2013] [Janssen: 2018] These may occur many years later and often will require consultation with pediatric surgery and/or orthopedic surgery.

Resources

Information & Support

For Parents and Patients

Support

Cherubs (CDI International)
Helps families of babies born with congenital diaphragmatic hernia by providing support services, promoting research, and raising awareness.

General

Breath of Hope
Detailed information for families in all stages of caring for a child with congenital diaphragmatic hernia. Includes booklets about expecting a child with CDH, bringing your baby home, how to answer your children's questions about a baby in the NICU, and managing sensory processing and feeding disorders.

Practice Guidelines

Lally KP, Engle W.
Postdischarge follow-up of infants with congenital diaphragmatic hernia.
Pediatrics. 2008;121(3):627-32. PubMed abstract
This guideline was reaffirmed by the American Academy of Pediatrics in 2011.

Patient Education

Patient Education – Congenital Diaphragmatic Hernia (PDF Document 147 KB)
Answers to questions that families might ask about caring for their child with CDH.

Helpful Articles

Hollinger LE, Harting MT, Lally KP.
Long-term follow-up of congenital diaphragmatic hernia.
Semin Pediatr Surg. 2017;26(3):178-184. PubMed abstract

Morini F, Valfrè L, Bagolan P.
Long-term morbidity of congenital diaphragmatic hernia: A plea for standardization.
Semin Pediatr Surg. 2017;26(5):301-310. PubMed abstract

Authors & Reviewers

Initial Publication: October 2018; Last Update: November 2018
Current Authors and Reviewers (click on name for bio):
Author: Michelle Yang, MD

Page Bibliography

American Academy of Pediatrics Committee on Infectious Diseases; American Academy of Pediatrics Bronchiolitis Guidelines Committee.
Updated guidance for palivizumab prophylaxis among infants and young children at increased risk of hospitalization for respiratory syncytial virus infection.
Pediatrics. 2014;134(2):e620-38. PubMed abstract

Arcos-Machancoses JV, Ruiz Hernández C, Martin de Carpi J, Pinillos Pisón S.
A systematic review with meta-analysis of the prevalence of gastroesophageal reflux in congenital diaphragmatic hernia pediatric survivors.
Dis Esophagus. 2018;31(6). PubMed abstract

Danzer E, Hedrick HL.
Neurodevelopmental and neurofunctional outcomes in children with congenital diaphragmatic hernia.
Early Hum Dev. 2011;87(9):625-32. PubMed abstract

Danzer E, Hoffman C, D'Agostino JA, Gerdes M, Bernbaum J, Antiel RM, Rintoul NE, Herkert LM, Flake AW, Adzick NS, Hedrick HL.
Neurodevelopmental outcomes at 5years of age in congenital diaphragmatic hernia.
J Pediatr Surg. 2017;52(3):437-443. PubMed abstract

Friedman S, Chen C, Chapman JS, Jeruss S, Terrin N, Tighiouart H, Parsons SK, Wilson JM.
Neurodevelopmental outcomes of congenital diaphragmatic hernia survivors followed in a multidisciplinary clinic at ages 1 and 3.
J Pediatr Surg. 2008;43(6):1035-43. PubMed abstract

Haliburton B, Mouzaki M, Chiang M, Scaini V, Marcon M, Moraes TJ, Chiu PP.
Long-term nutritional morbidity for congenital diaphragmatic hernia survivors: Failure to thrive extends well into childhood and adolescence.
J Pediatr Surg. 2015;50(5):734-8. PubMed abstract

Hollinger LE, Harting MT, Lally KP.
Long-term follow-up of congenital diaphragmatic hernia.
Semin Pediatr Surg. 2017;26(3):178-184. PubMed abstract

Jancelewicz T, Chiang M, Oliveira C, Chiu PP.
Late surgical outcomes among congenital diaphragmatic hernia (CDH) patients: why long-term follow-up with surgeons is recommended.
J Pediatr Surg. 2013;48(5):935-41. PubMed abstract

Janssen S, Heiwegen K, van Rooij IA, Scharbatke H, Roukema J, de Blaauw I, Botden SM.
Factors related to long-term surgical morbidity in congenital diaphragmatic hernia survivors.
J Pediatr Surg. 2018;53(3):508-512. PubMed abstract

Lally KP, Engle W.
Postdischarge follow-up of infants with congenital diaphragmatic hernia.
Pediatrics. 2008;121(3):627-32. PubMed abstract
This guideline was reaffirmed by the American Academy of Pediatrics in 2011.

Leeuwen L, Mous DS, van Rosmalen J, Olieman JF, Andriessen L, Gischler SJ, Joosten KFM, Wijnen RMH, Tibboel D, IJsselstijn H, Spoel M.
Congenital Diaphragmatic Hernia and Growth to 12 Years.
Pediatrics. 2017;140(2). PubMed abstract

Maier S, Zahn K, Wessel LM, Schaible T, Brade J, Reinshagen K.
Preventive antireflux surgery in neonates with congenital diaphragmatic hernia: a single-blinded prospective study.
J Pediatr Surg. 2011;46(8):1510-5. PubMed abstract

Morandi A, Macchini F, Zanini A, Pasqua N, Farris G, Canazza L, Gentilino V, Di Cesare A, Leva E.
Endoscopic Surveillance for Congenital Diaphragmatic Hernia: Unexpected Prevalence of Silent Esophagitis.
Eur J Pediatr Surg. 2016;26(3):291-5. PubMed abstract

Muratore CS, Kharasch V, Lund DP, Sheils C, Friedman S, Brown C, Utter S, Jaksic T, Wilson JM.
Pulmonary morbidity in 100 survivors of congenital diaphragmatic hernia monitored in a multidisciplinary clinic.
J Pediatr Surg. 2001;36(1):133-40. PubMed abstract

Muratore CS, Utter S, Jaksic T, Lund DP, Wilson JM.
Nutritional morbidity in survivors of congenital diaphragmatic hernia.
J Pediatr Surg. 2001;36(8):1171-6. PubMed abstract

Peetsold MG, Kneepkens CM, Heij HA, IJsselstijn H, Tibboel D, Gemke RJ.
Congenital diaphragmatic hernia: long-term risk of gastroesophageal reflux disease.
J Pediatr Gastroenterol Nutr. 2010;51(4):448-53. PubMed abstract

Resch B, Liziczai K, Reiterer F, Freidl T, Haim M, Urlesberger B.
Respiratory syncytial virus associated hospitalizations in children with congenital diaphragmatic hernia.
Pediatr Neonatol. 2018;59(2):184-188. PubMed abstract

Robertson CM, Cheung PY, Haluschak MM, Elliott CA, Leonard NJ.
High prevalence of sensorineural hearing loss among survivors of neonatal congenital diaphragmatic hernia. Western Canadian ECMO Follow-up Group.
Am J Otol. 1998;19(6):730-6. PubMed abstract

Steven MJ, Fyfe AH, Raine PA, Watt I.
Esophageal adenocarcinoma: a long-term complication of congenital diaphragmatic hernia?.
J Pediatr Surg. 2007;42(7):E1-3. PubMed abstract

Trachsel D, Selvadurai H, Bohn D, Langer JC, Coates AL.
Long-term pulmonary morbidity in survivors of congenital diaphragmatic hernia.
Pediatr Pulmonol. 2005;39(5):433-9. PubMed abstract