Q79.0, Congenital diaphragmatic hernia

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

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]

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

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 & Gastrostomies in Children 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.