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Congenital Diaphragmatic Hernia (CDH)

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Guidance for primary care clinicians assessing and managing children with congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is an abnormal diaphragmatic development disorder leading 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.

Other Names

CDH
Congenital diaphragmatic defect

Key Points

Illustration of a diaphragmatic hernia in a fetus showing details of hear, lungs, stomach

Common long-term problems
Some of the most common long-term problems in children with CDH are recurrent respiratory system infections (34%), pathological gastrointestinal reflux (30%), growth delay (20%), and chest wall deformations/scoliosis (40%). These may occur many years later and often require consultation with pediatric and/or orthopedic surgery. [Koziarkiewicz: 2014] Children with CDH also may have respiratory problems, such as chronic lung disease, aspiration pneumonia, pulmonary hypertension, and obstructive airway disease. Other common GI issues include oral aversion and growth failure. Neurocognitive delays and behavioral issues are possible. [Dumpa: 2024]

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.[Jancelewicz: 2013] [Janssen: 2018]

Important roles of the medical home
The medical home can assist families with supplemental oxygen, feeding tubes, and other forms of supportive care and help coordinate follow-up with subspecialists.

Practice Guidelines

Lally KP, Engle W.
Postdischarge follow-up of infants with congenital diaphragmatic hernia.
Pediatrics. 2008;121(3):627-32. PubMed abstract

Diagnosis

Presentations

Most patients with CDH are diagnosed via prenatal imaging. Postnatally, these patients often present in respiratory distress within the first few minutes of life. Physical exam may be notable for a barrel-shaped chest, scaphoid abdomen, and absent breath sounds on the side of the CDH. A few patients present later in childhood with respiratory distress or GI symptoms. [Chao: 2011]

Diagnostic Testing & Screening

Screening prior to NICU discharge:
  • Newborn screening
  • Hearing screening
  • Car seat testing
Because infants with CDH obtain an echocardiogram in the NICU, critical congenital heart disease (CCHD) screening is not needed.

Imaging

All newborns with CDH should undergo echocardiography to assess for associated heart defects. Echocardiography is often completed prior to surgical repair of the CDH defect.
A swallow study can be considered prior to NICU discharge as many infants with CDH are at risk for aspiration or swallow dysfunction.

Testing for Family Members

No routine testing is advised due to no significant familial association.

Genetics

It is thought that at least 10% of CDH is associated with a chromosomal anomaly or genetic syndrome. Monogenic anomalies account for an increasing percentage of diaphragmatic hernias. There is no significant familial association. The presence of complex disease, additional findings, or concerning family history would prompt consideration of additional genetic consultation and testing. There are CDH genetic panels available. [McGivern: 2015] [Longoni: 2020]

Prevalence

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

Differential Diagnosis

Congenital pulmonary airway malformation (CPAM) can be differentiated by fetal MRI or postnatal CT scan.
Bronchopulmonary sequestration (BPS) can be differentiated by fetal MRI or postnatal CT scan.

Comorbid Conditions

Comorbid conditions are present in approximately 50% of newborns with CDH: [Bojanić: 2015]
  • Congenital heart disease (all newborns with CDH must undergo echocardiogram)
  • Neural tube defects
  • CNS malformations
  • Genitourinary defects
  • Esophageal atresia
  • Polysplenia
  • Cryptorchidism
  • Skeletal abnormalities
  • Genetic syndromes

Prognosis

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

Treatment & Management

Neonates with CDH are managed postnatally in the neonatal intensive care unit (NICU) and undergo surgical repair. Intubation with mechanical ventilation is necessary. Extracorporeal membrane oxygenation (ECMO) can be required. After NICU discharge, they are at risk of persistent pulmonary 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.

Respiratory

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 manages 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]

Gastro-Intestinal & Bowel Function

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] Often, 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 Gastroesophageal Reflux Disease for treatment information.

Nutrition/Growth

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 as the infant works to overcome oral aversion with speech therapists. Feeding Tubes & Gastrostomies in Children provides management information.

Development

Language and neuromotor development can be delayed, which may persist throughout childhood, especially in those infants who require 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 in 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 Spectrum Disorder (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] See Developmental Screening and Autism Screening.

Ears/Hearing

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 Screening and Hearing Loss & Deafness.

Services & Referrals

Support groups for CDH also exist, with a common one being CDH International.

Patient Education

Patient Education – Congenital Diaphragmatic Hernia (PDF Document 147 KB)

ICD-10

Q79.0, Congenital diaphragmatic hernia

Resources

Information & Support

Related Portal Content

Care Notebook
Medical information in one place with fillable templates to help both families and providers. Choose only the pages needed to keep track of the current health care summary, care team, care plan, and health coverage.

Information & Support

For Parents and Patients

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.

Services for Patients & Families in Rhode Island (RI)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

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: November 2018; last update/revision: April 2024
Current Authors and Reviewers:
Author: Tyler T Miller, MD
Senior Author: Michelle Yang, MD
Authoring history
2018: first version: Michelle Yang, MDA
AAuthor; CAContributing Author; SASenior Author; RReviewer

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

Bojanić K, Pritišanac E, Luetić T, Vuković J, Sprung J, Weingarten TN, Schroeder DR, Grizelj R.
Malformations associated with congenital diaphragmatic hernia: Impact on survival.
J Pediatr Surg. 2015;50(11):1817-22. PubMed abstract

Chao PH, Chuang JH, Lee SY, Huang HC.
Late-presenting congenital diaphragmatic hernia in childhood.
Acta Paediatr. 2011;100(3):425-8. 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

Dumpa V, Chandrasekharan P.
Congenital Diaphragmatic Hernia.
StatPearls. 2024. 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

Koziarkiewicz M, Taczalska A, Piaseczna-Piotrowska A.
Long-term follow-up of children with congenital diaphragmatic hernia--observations from a single institution.
Eur J Pediatr Surg. 2014;24(6):500-7. 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

Longoni M, Pober BR, High FA.
Congenital Diaphragmatic Hernia Overview.
GeneReview. 2020. 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

McGivern MR, Best KE, Rankin J, Wellesley D, Greenlees R, Addor MC, Arriola L, de Walle H, Barisic I, Beres J, Bianchi F, Calzolari E, Doray B, Draper ES, Garne E, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Latos-Bielenska A, O'Mahony M, Braz P, McDonnell B, Mullaney C, Nelen V, Queisser-Luft A, Randrianaivo H, Rissmann A, Rounding C, Sipek A, Thompson R, Tucker D, Wertelecki W, Martos C.
Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study.
Arch Dis Child Fetal Neonatal Ed. 2015;100(2):F137-44. 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

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

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