Prenatal Presentation

The diagnosis of congenital diaphragmatic hernia is often made prenatally using ultrasound. Infants with diaphragmatic hernia may also have other problems that may be identified with ultrasound like polyhydramnios, absent gastric bubble, mediastinal shift, and hydrops fetalis. Ultrasound may also show intestinal contents in the chest cavity and even a mediastinal shift. It is important to remember that there are other disorders that may mimic these findings, such as pulmonary sequestration, congenital cystic adenomatoid malformation, foregut cysts and mediastinal cysts.

Postnatal Presentation

Infants born with diaphragmatic hernia may present with clinical symptoms which might be due to pulmonary hypoplasia and the herniation of intestinal contents into the chest. The infant will usually present with

• Cyanosis
• Feeding intolerance
• Respiratory distress
• Tachycardia
• Tachypnea

The physical exam can reveal a scaphoid abdomen and auscultation might reveal absent breath sound in the chest. Bowel sounds may also be heard in the chest and the heart sounds may be absent or displaced.
Some infants with a mild diaphragmatic defect may present late with features like respiratory distress, signs of bowel obstruction, metabolic acidosis or necrotic bowel.

Timing of Surgery

No time for repair of congenital diaphragmatic hernia (CDH) is ideal, but the pediatric surgeons suggest that the window of opportunity is 24-48 hours after birth. This time period allows for stabilization of the infant and helps achieve normal pulmonary arterial pressures with use of nitric oxide. It also gives time to correct any metabolic or electrolyte deficiency.

• Weight Gain

  Slow weight gain is very common. If your child has to work harder to breathe, more energy or calories are used. This usually improves as the child grows. If a special diet is needed, the health care team will review the plan with you. [childrensmn.org]

  The pattern of early deterioration of weight gain followed by a decline in linear growth is suggestive of inadequate nutrition during infancy. [pediatrics.aappublications.org]

  Weight gain, multiparity, increased maternal age and a history of difficult deliveries, including shoulder dystocia, may also play a role. [physio-pedia.com]

• Anemia

  Usual complaints are chest pain, epigastric pain, Difficulty in swallowing, Fullness after food, heartburn, regurgitation, vomiting, weight loss, anemia, and respiratory symptoms. [continentalhospitals.com]

  It provides different calculators in the following areas: - Gestational - Doppler - Fetal Anemia - Preeclampsia - Fetal Growth - Congenital Diaphragmatic Hernia The different calculation algorithms are based on multiple research studies: Dating 1. [play.google.com]

• Dyspnea

  A 47-year-old male presented with Grade III angina and dyspnea. A routine chest radiograph revealed bowel shadows in the right thorax, and subsequent computerized tomography (CT) scan confirmed the same. [ncbi.nlm.nih.gov]

  Case Report A 29-yr-old woman, secundigravida, primapara was admitted to our emergency department at 28 wk gestation for acute dyspnea. [journals.lww.com]

  […] pleuroperitoneal membrane to develop abdominal contents herniate into the pleural cavity contents can compress lungs buds preventing proper development causing pulmonary hypoplasia commonly presents on left posterolateral side Presentation Symptoms dyspnea [medbullets.com]

• Abdominal Pain

  We describe a case of a maternal diaphragmatic hernia diagnosed at 31 weeks gestation in the setting of acute upper abdominal pain. [ncbi.nlm.nih.gov]

  The patient had been suffering for 15 days from severe abdominal pain and intractable vomiting, unrelieved by metoclopramide. Her weight decreased from 45 kg to 43 kg. [journals.lww.com]

  […] hernial defect, e.g. nausea, vomiting, fullness in the upper abdomen and episodes of recurrent abdominal pain. [laparoscopyindia.com]

• Regurgitation

  Usual complaints are chest pain, epigastric pain, Difficulty in swallowing, Fullness after food, heartburn, regurgitation, vomiting, weight loss, anemia, and respiratory symptoms. [continentalhospitals.com]

  Twenty-three patients were asymptomatic; the 30 others had the following symptoms: regurgitation ( n = 11), regurgitation with feeding difficulties ( n = 18), and oxygen saturation dips ( n = 1). [pediatrics.aappublications.org]

  The presence of the tricuspid regurgitation jet allows one to estimate right ventricular pressure. [clinicalpainadvisor.com]

• Dyspepsia

  Keywords: Hernia, Diaphragmatic hernia, Laparoscopy INTRODUCTION Dyspepsia is a common gastrointestinal symptom. Occasionally, a chest radiograph may uncover some uncommon chest pathology. [ncbi.nlm.nih.gov]

  […] disease|GERD ) - Esophageal stricture - تضخم المرئ Megaesophagus المعدة Gastritis ( Atrophic, Ménétrier's disease, التهاب المعدةوالامعاء Gastroenteritis ) - قرحة هضمية Peptic ulcer|Peptic (gastric) ulcer ( Cushing ulcer, Dieulafoy's lesion ) - عسرهضم Dyspepsia [marefa.org]

• Dysphagia

  Granderath FA, Schweiger UM, Kamolz T, Pointner R (2005) Dysphagia after laparoscopic antireflux surgery: a problem of hiatal closure more than a problem of the wrap. Surg Endosc 19: 1439–1446 PubMed CrossRef Google Scholar 19. [link.springer.com]

  […] scan shows in left side, large diaphragmatic defect which allows passage of the stomach, spleen and colon (referred to as Bochdalek hernias) and complete collapse of left lung Case 3: A 73-year-old woman arrived with complaint of breathlessness and dysphagia [wjes.biomedcentral.com]

• Hiccup

  In view of persisting vomiting and hiccup, a nasogastric tube was inserted resulting in a large gush of air. [intjem.biomedcentral.com]

• Chest Pain

  Chest Pain Chest pain is a diaphragmatic hernia symptom in adults, the Cleveland Clinic reports. This symptom occurs as a consequence of diaphragm inflammation caused by the unusual stomach protrusion or hernia. [livestrong.com]

  A 36 years old male underwent minimally invasive esophagectomy and presented with chest pain and dyspnoea in the emergency department 8 months after the procedure. [ncbi.nlm.nih.gov]

  No chest pain or shortness of breath. Background: Trisomy 21. Patient Data Age: 50 Gender: Male Hemidiaphragms are obscured by multiple lucencies projecting over both lower lungs suspicious for bowel loops. Loading images... [radiopaedia.org]

  This case had a history of compressive blunt trauma to the chest, chest pain, and breathlessness and was initially diagnosed as pneumothorax; however, it was confirmed on nasogastric tube insertion and follow-up chest X-ray and CT scan as diaphragmatic [intjem.biomedcentral.com]

• Palpitations

  The symptoms are generally of two types: Symptoms as a result of pressure on the organs in the chest, e.g. episodes of breathlessness or palpitations, recurrent cough or chest infections Symptoms related to the abdominal organs getting caught up in the [laparoscopyindia.com]

  Clinical symptoms may include upper abdominal pain, bloating, discomfort after meal, vomiting, cough, dyspnea, and palpitation. [hindawi.com]

When a diaphragmatic hernia is visualized on ultrasound, amniocentesis can be done to assess the karyotype. In addition, maternal serum alpha fetoprotein levels may be diminished.
After birth the following workups are required:

• Obtain serial arterial blood gas to assess for pH, hypoxemia, hypercarbia and metabolic acidosis.
• Obtain complete blood count
• Liver and renal function
• Coagulation profile

Imaging Studies

A repetition of  ultrasound is required at birth to confirm the diagnosis of diaphragmatic hernia
Echo is required to assess for presence of congenital heart defects and presence of any shunts. Common heart defects present include atrial and ventricular septal defects or a ductus arteriosus. These heart defects need to be repaired first prior to the diaphragmatic repair. In most centers, interventional endovascular procedures can now close most of these congenital heart defects. Serial echo are required as infants with diaphragmatic hernia may develop pulmonary hypertension. Hence measurement of pulmonary artery pressures and responsive to treatment is necessary. All infants with a diaphragmatic hernia need serial ECHOs to determine the pulmonary artery pressures and response to treatment. Detailed ultrasound can also assess the degree of pulmonary hypoplasia.[5]

Chest radiography

Chest x-ray is often the first imaging study done to confirm presence of diaphragmatic hernia. It may show a mediastinal shift to the contralateral side, bowel loops in the chest, or the presence of tip of the nasogastric tube in the chest cavity. Hernias on the right side are often difficult to visualize because the liver often prevents bowel contents from entering the chest cavity. Sometimes the liver may be pushed in the right chest cavity and may appear as a lobar consolidation or diaphragmatic eventration.

• Mediastinal Mass

  Masses Mediastinal abnormalities Nodules and Masses Abnormalities of the Diaphragm Pleural effusion Pneumothorax Plueral Diseases Lung Fields Abnormalities Pulmonary emphysema Diaphragmatic hernia Cardiomegaly Pericardial effusion Pneumomediastinum Subcutaneous [play.google.com]

  Chest radiograph may reveal an anteromedial mass in Morgagni hernia. [hindawi.com]

  Mediastinal masses in children. Semin Thorac Cardiovasc Surg. 2004; 16 :201–8. [ PubMed : 15619186 ] Jani JC, Nicolaides KH, Gratacós E, Valencia CM, Doné E, Martinez JM, Gucciardo L, Cruz R, Deprest JA. [ncbi.nlm.nih.gov]

• Esophageal Motility Disorder

  rupture ( Boerhaave syndrome, متلازمة مالوري-ويسMallory-Weiss syndrome ) - UES|متلازمة مالوري-ويس ( رتج زنكر Zenker's diverticulum ) - مصرة المرئ السفلى lower esophageal sphincter|LES ( Barrett's esophagus ) - اضطراب حركة المرئ Esophageal motility [marefa.org]

• Hypercapnia

  Spontaneous ventilation or high frequency, low pressure ventilation (<20-25 cm H2O), no relaxation, alkalinization and adoption of modest gasometric goals (pre-ductal saturation of 80-95%, PaO2 60 mm Hg, hypercapnia <60 mm Hg) are now the standard. [orpha.net]

  2 O) for hypercapnia or hypoxia. 17, 20, 25, 26 In the most recent report, Bagolan et al. 16 used HFOV once PIPs were >24 cm H 2 O and sought a hypercapneic state. [doi.org]

  More than 90% of the International CDH Registry centres aimed to minimise lung injury by limiting the peak airway pressure and allowing permissive hypercapnia, rather than aiming for a low Pa,CO2 to reduce pulmonary vascular resistance [50]. [erj.ersjournals.com]

  Every effort should be made to avoid factors known to contribute to pulmonary hypertension such as light anesthesia, hypothermia, hypoxia, acidosis, and excessive hypercapnia. d. Renal-GI: N/A e. [clinicalpainadvisor.com]

• As soon as the infant is delivered, he/she is intubated. A nasogastric tube is inserted to decompress the stomach and avoid distension of the bowel contents. Bagging with a mask is not recommended as the gas may enter the stomach and intestine and worsen the compression of the lungs in the chest. All infants need to be managed in the neonatal intensive care unit with monitoring of the heart, blood pressure, urine output. The amount of fluid administered is strictly monitored to prevent overload into the lungs.
• While on the ventilator, the amount of inspiratory pressures should be limited. A slight degree of hypercarbia is permitted as long as the pH is not significantly altered. In some centers high frequency ventilation and extracorporeal membrane oxygenation is utilized. When available, nitric oxide is also used to lower pulmonary hypertension in infants who remain critical and are hypoxic [6][7].
• High frequency jet ventilation is usually employed in infants with hypoxemia and hypercarbia who fail to respond to conventional ventilation or require high levels of positive inspiratory pressure.
  Another therapy which is often used in infants with diaphragmatic hernia is surfactant treatment. Surfactant is often used as rescue therapy which is administered within 24 hours of birth in neonates with congenital diaphragmatic hernia who are thought to have a poor prognosis.
• ECMO is an invasive procedure and criteria have been established regarding when it should be used. In general, infants who have respiratory failure, with a pH < 7.15, fail to respond to medical treatment and have an oxygen index > 40 may benefit from ECMO. In addition, the infant should not have lung hypoplasia. ECMO has been shown to give time for the lung to mature and helps transition from fetal circulation to maturation.
• In the past the management of congenital diaphragmatic hernia involved emergent repair of the diaphragmatic hernia. Over the past two decades this approach has changed. Today, the emphasis is on management of pulmonary hypertension and pulmonary hypoplasia. Initial management involves a medical approach to correcting the hypoxia and improving alveolar recruitment. When the infant is stable, surgery is undertaken to the diaphragmatic hernia.
• Surgical Therapy
  Most experts recommend that surgery to repair the diaphragmatic hernia should be done 24-48 hours after birth. This window can help achieve adequate oxygenation and normalize pulmonary artery pressures. However, in very sick infants surgery may have to be delayed until the infant is stable. With the availability of ECMO and high frequency jet ventilation, emergency surgery is almost never necessary. This can sometimes result in pulmonary hypertensive crises.
  Intraoperative Details
  Surgery to repair the diaphragmatic hernia may be done via a subcostal incision. The abdominal contents are examined, the hernia sac is excised and the diaphragm defect is closed. Small diaphragmatic defects are closed primarily, but large defects may require a prosthetic patch or a muscle flap. Both thoracoscopic and laparoscopic surgery can be used to repair the diaphragmatic defect. Thoracoscopic procedures provide better visibility, there is a lesser need for pain medications in the post operative period and the duration of ventilation is decreased. However, recurrence rate following thoracoscopic surgery is high.
• Infants who are on ECMO and undergo surgical repair usually are at a high risk for complications such as bleeding, which can occur in the brain. It is usually preferred to wean the infant off the ECMO prior to surgery. 
• Even after release from hospital, continual follow up with a variety of healthcare providers is necessary. These infants require serial pulmonary function tests, chest x-rays, blood gas and neurological assessment [8][9].

Over the years, many studies have looked at survival rates in infants with diaphragmatic hernia. Survival of infants with diaphragmatic hernia depends on comorbidity, degree of prematurity, and extent of hypoxia [4]. For infants with just a diaphragmatic defect, the prognosis is good. Infants with lung hypoplasia and pulmonary hypertension tend to have a poor prognosis. Even with the use of ECMO and high frequency jet ventilation, the mortality rates remain high. Post operative complications are serious and include bowel obstruction, adhesions, volvulus and leakage of peritoneal fluid into the chest cavity. Most infants have a prolonged hospital stay and later require extensive pulmonary rehabilitation. Studies have shown persistent neuropsychiatric deficits in a number of children who had congenital diaphragmatic hernia at birth.

The exact cause of congenital diaphragmatic hernia remains unknown. There are several hypothesis as to why diaphragmatic hernias develop. Infants with a variety of chromosomal abnormalities are known to develop diaphragmatic hernia. However, there is no particular syndrome which has a high incidence of diaphragmatic hernia and the incidence varies. Diaphragmatic hernias are not genetically inherited, as the familial incidence is very low.
The role of toxins, environmental chemicals and drugs as a cause of diaphragmatic hernia is uncertain. There is no one study that has shown a solid correlation between exposure to these agents and the occurrence of the hernia. However, certain drugs like thalidomide, quinine and nitrogen have been used to induce diaphragmatic defects in laboratory animals.
The diaphragmatic hernia results because of the failure of the pleuroperitoneal canals to close. When this canal remains open, the intestine and other intra-abdominal organs can enter the chest cavity. As these structures occupy volume, they compress the lung at a critical stage during its maturation, leading to hypoplasia. There is also a shift of the mediastinum to the contralateral chest cavity that may result in mild compression of the contralateral lung and the heart.

Congenital diaphragmatic hernia is not a common disorder and occurs in 0.1 per 300 live births. The disorder is known to occur in both genders and all races. Outside the USA, the exact number of infants with this disorder is not known but the rates are felt to be similar. The majority of these infants are treated in specialized tertiary care centers where ECMO and high frequency jet ventilation techniques are available.

The pathophysiology of a congenital diaphragmatic hernia is related to several associated factors like pulmonary hypertension, pulmonary hypoplasia, absence of surfactant and immaturity of the lung. The basic pathology starts with the intestinal contents herniating into the chest cavity. The compression effect of intestine and the other intra-abdominal organs prevent lung development on the ipsilateral side. The sooner the herniation occurs in the chest cavity, the more pronounced is the pathology on the lung. Lung development and airway division can be inhibited by the compressive effects of bowel. Besides effecting lung development, the herniation of the intestine also affect development of the pulmonary arterial system and bronchi, and the end result is fewer pulmonary artery branches. The eventual outcome is development of severe muscular hypertrophy of the pulmonary vessels that are sensitive to vasoconstriction. Pulmonary hypertension that results often leads to right to left shunting at the ductal and through the foramen ovale, resulting in cyanosis. The persistence of this fetal circulation leads to severe right heart strain leading to hypoxemia, hypercarbia, acidosis and pulmonary hypertension. Infants with congenital diaphragmatic hernia also have deficiency of surfactant and impairment of antioxidant enzymes making the lung parenchyma susceptible to hypoxic injury. Depending on the extent of intestinal herniation in the chest cavity, there is a shift of the mediastinum to the contralateral side and compression on the heart.

Because the cause of diaphragmatic hernia is unknown, prevention is difficult. However, all pregnant females should undergo regular prenatal ultrasounds, so that the disorder can be identified early and preparations can be made for transfer to a tertiary care center. The patient should be told to avoid use of medications, herbal products and any other unknown agent during the pregnancy, without first speaking to the physician. Because congenital diaphragmatic hernia does not appear to have a genetic link, the risk to successive pregnancies is low.

Congenital diaphragmatic hernia is not a novel disorder. The first case was reported nearly 400 years ago. The first surgical attempt to repair this disorder was done about 140 years ago, but at that time there was no anesthesia and the surgical equipment were crude, hence mortality rates were high. Over the years, there has been a better understanding of congenital diaphragmatic hernia and its pathophysiology. The condition is diagnosed in utero in most cases and the mother is often transferred to a tertiary care center for post natal care. The presentation of an infant with a diaphragmatic hernia can vary depending on when the defect developed in-utero, the degree of hypoxia, presence of pulmonary hypertension and any other co-morbidities. Congenital diaphragmatic hernia is often associated with other anomalies at birth that increase the morbidity and mortality. Congenital heart defects, renal anomalies, chromosomal defects, urological abnormalities and neural tube defects tend to occur in at least 10-15% of infants.
In the past immediate surgery was undertaken for infants with congenital diaphragmatic hernia, but now with better a understanding, most experts indicate that surgery should be deferred until the infant is stabilized. Most of these infants require immediate intubation, with low ventilatory pressures and nitric oxide. In some centers high frequency jet ventilation and extra corporeal membrane circulation (ECMO) have been used to help infants overcome the hypoxia and pulmonary hypertension [1][2][3].

Congenital diaphragmatic hernia is a serious disorder where there is a defect in the diaphragm during fetal development. The abdominal contents can then enter the chest cavity and prevent lung development on that side. In addition, the intestines can push the chest contents to the opposite site and also compress the heart. Infants are usually diagnosed with diaphragmatic hernia at birth and transferred to a specialized center. Most infants are symptomatic and require intubation with ventilation. Surgery is often done within 24-48 hours. Because of the failure of the lung to develop, most infants develop high pressures in their lung which prevents oxygenation. Right sided heart failure can occur. The prognosis of these infants depends on the complexity of the diaphragmatic defects and other comorbid disorders. Despite availability of new tools, the treatment of diaphragmatic hernia is difficult and does carry a high mortality.

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8. Tracy S, Chen C. Multidisciplinary long-term follow-up of congenital diaphragmatic hernia: a growing trend. Semin Fetal Neonatal Med. 2014 Dec;19(6):385-91
9. Danzer E, Kim SS. Neurodevelopmental outcome in congenital diaphragmatic hernia: Evaluation, predictors and outcome. World J Clin Pediatr. 2014 Aug 8;3(3):30-6