Congenital diaphragmatic Congenital diaphragmatic herniahernia

Pediatric Surgery Department

History History

1679 – Riverius recorded the first CDH1679 – Riverius recorded the first CDH 1761 – Morgagni desribed tycpes of CDH1761 – Morgagni desribed tycpes of CDH 1905 – Heidenhain repair CDH1905 – Heidenhain repair CDH 1925 – Hedbolm suggested that CDH led to 1925 – Hedbolm suggested that CDH led to

pulmonary hypoplasia and early operation pulmonary hypoplasia and early operation improve survivalimprove survival

1946 – Gross correct CDH 1946 – Gross correct CDH < 24 hours of age< 24 hours of age 1980-1990 – delayed correction become wide1980-1990 – delayed correction become wide

Incidence Incidence

1 : 2000-5000 live birth1 : 2000-5000 live birth 8 % 8 % of all major congenital anomaliesof all major congenital anomalies mortality rate nearing 70 percent mortality rate nearing 70 percent CDH accounts CDH accounts > 1% of total infant > 1% of total infant

mortality in USAmortality in USA

Cost per new case CDH = 250 000 $Cost per new case CDH = 250 000 $

Diaphragm DevelopmentDiaphragm Development

Diaphragm DevelopmentDiaphragm Development

Diaphragm DevelopmentDiaphragm Development

Causes Causes The cause of CDH is largely unknown The cause of CDH is largely unknown CDH can occur as part of a multiple CDH can occur as part of a multiple

malformation syndrome in up to 40% of malformation syndrome in up to 40% of infants infants ((cardiovascular, genitourinary, cardiovascular, genitourinary, and gastrointestinal malformationsand gastrointestinal malformations))

Karyotype abnormalities have been Karyotype abnormalities have been reported in 4% of infants with CDH, and reported in 4% of infants with CDH, and CDH may be found in a variety of CDH may be found in a variety of chromosomal anomalies including chromosomal anomalies including trisomy 13, trisomy 18, and tetrasomy trisomy 13, trisomy 18, and tetrasomy 12p mosaicism 12p mosaicism

Prenatal DiagnosisPrenatal Diagnosis

ultrasonography diagnosisultrasonography diagnosis ((as early as the as early as the second trimestersecond trimester))

Mediastinal shuntMediastinal shunt

      Viscera herniation (stomach, intestines, Viscera herniation (stomach, intestines, liver*,liver*, kidneys, kidneys, spleen and gall bladder)              spleen and gall bladder)             

      Abnormal position of certain viscera inside the abdomenAbnormal position of certain viscera inside the abdomen

      Stomach visualization out of its usual positionStomach visualization out of its usual position

      Intrauterine growth retardation*Intrauterine growth retardation*

      Polyhydramnios*Polyhydramnios*

      Fetal hydrops*Fetal hydrops*

* bad prognosis* bad prognosis

Fetal diafragmatic hernia: Fetal diafragmatic hernia: Ultrasound diagnosis Ultrasound diagnosis

Prenatal MR ImagingPrenatal MR Imaging - - single-shot turbo spin- single-shot turbo spin-echo (HASTE)echo (HASTE)-- of congenital diaphragmatic of congenital diaphragmatic

herniahernia

Prenatal MR Imaging of Prenatal MR Imaging of congenital diaphragmatic congenital diaphragmatic

herniahernia

PPulmonary hypoplasia ulmonary hypoplasia

Anatomopathology show of Anatomopathology show of CDHCDH

Prenatal CounselingPrenatal Counseling multidisciplinary team multidisciplinary team

patient's obstetrician perinatologist perinatologist geneticist geneticist surgeonsurgeon social worker social worker

Prenatal managementPrenatal management

GlucocorticoidsGlucocorticoids Thyrotropin-releasing hormoneThyrotropin-releasing hormone Fetal surgical therapy (Fetal surgical therapy (Antenatal surgical Antenatal surgical

interventionintervention, , In utero tracheal occlusionIn utero tracheal occlusion ))

Delivery Room Delivery Room ManagementManagement

affected infants should be delivered in a center that has experienced affected infants should be delivered in a center that has experienced personnel and available therapies. personnel and available therapies.

the team in the delivery room consist of personnel experienced in the the team in the delivery room consist of personnel experienced in the immediate resuscitation and stabilization of critically ill neonates immediate resuscitation and stabilization of critically ill neonates

affected patients affected patients in any respiratory distressin any respiratory distress require positive pressure require positive pressure ventilation in the delivery room. ventilation in the delivery room.

To prevent distension of the gastrointestinal tract and further compression of the pulmonary parenchyma, a double-lumen nasogastric or orogastric tube of large caliber is placed to act as a vent.

Early intubation is preferable to bag-mask ventilation or continuous Early intubation is preferable to bag-mask ventilation or continuous positive airway pressure via mask or nasal prongs positive airway pressure via mask or nasal prongs

Postnanal DiagnosisPostnanal Diagnosis

Respiratory distressRespiratory distress Scaphoid abdomenScaphoid abdomen AAuscultation of the lungs reveals uscultation of the lungs reveals

poor air entry poor air entry Shift of the heart to the side oppositeShift of the heart to the side opposite

Lab StudiesLab Studies

Arterial blood gasArterial blood gas Obtain frequent arterial blood gas (ABG) measurements to assess for Obtain frequent arterial blood gas (ABG) measurements to assess for

pH, PaCO2, and PaO2.pH, PaCO2, and PaO2. Note the sampling site because persistent pulmonary hypertension Note the sampling site because persistent pulmonary hypertension

(PPHN) with right-to-left ductal shunting often complicates CDH. The (PPHN) with right-to-left ductal shunting often complicates CDH. The PaO2 may be higher from a preductal (right-hand) sampling site.PaO2 may be higher from a preductal (right-hand) sampling site.

Chromosome studiesChromosome studies Obtain chromosome studies because of the frequent association with Obtain chromosome studies because of the frequent association with

chromosomal anomalies.chromosomal anomalies. In rare cases, chromosomal disorders that can only be diagnosed by In rare cases, chromosomal disorders that can only be diagnosed by

skin biopsy may be present. If dysmorphic features are observed on skin biopsy may be present. If dysmorphic features are observed on examination, a consultation with a geneticist is often helpful.examination, a consultation with a geneticist is often helpful.

Serum electrolytesSerum electrolytes: Monitor serum electrolytes, ionized : Monitor serum electrolytes, ionized calcium, and glucose levels initially and frequently. Maintenance calcium, and glucose levels initially and frequently. Maintenance of reference range glucose levels and calcium homeostasis is of reference range glucose levels and calcium homeostasis is particularly importantparticularly important

Imaging StudiesImaging Studies Cardiac ultrasonographyCardiac ultrasonography

Perform ultrasonographic studies to rule out congenital heart Perform ultrasonographic studies to rule out congenital heart diseases.diseases.

Because the incidence of associated cardiac anomalies is high Because the incidence of associated cardiac anomalies is high (up to 25%), cardiac ultrasonography is needed to evaluate for (up to 25%), cardiac ultrasonography is needed to evaluate for associated cardiac anomalies.associated cardiac anomalies.

Renal ultrasonographyRenal ultrasonography: A renal ultrasonographic : A renal ultrasonographic examination may be needed to rule out genitourinary examination may be needed to rule out genitourinary anomalies.anomalies.

Cranial ultrasonographyCranial ultrasonography Perform cranial sonography if the infant is being considered for Perform cranial sonography if the infant is being considered for

extracorporeal support.extracorporeal support. Ultrasonographic examination should focus on evaluation of Ultrasonographic examination should focus on evaluation of

intraventricular bleeding and peripheral areas of hemorrhage or intraventricular bleeding and peripheral areas of hemorrhage or infarct or intracranial anomalies.infarct or intracranial anomalies.

Other TestsOther Tests

Pulse oximetryPulse oximetry Continuous pulse oximetry is valuable in Continuous pulse oximetry is valuable in

the diagnosis and management of PPHN.the diagnosis and management of PPHN. Place oximeter probes at preductal Place oximeter probes at preductal

(right-hand) and postductal (either foot) (right-hand) and postductal (either foot) sites to assess for a right-to-left shunt at sites to assess for a right-to-left shunt at the level of the ductus arteriosusthe level of the ductus arteriosus

Postnanal Diagnosis Postnanal Diagnosis left-sided CDH left-sided CDH

Radiograph in a male neonate shows the Radiograph in a male neonate shows the tip (large arrow) of the nasogastric tube tip (large arrow) of the nasogastric tube positioned in the left hemithorax. Note positioned in the left hemithorax. Note the marked apex leftward angulation of the marked apex leftward angulation of the umbilical venous catheter (small the umbilical venous catheter (small arrow). arrow).

Right congenital diaphragmatic Right congenital diaphragmatic hernia hernia

Radiograph in a male neonate shows Radiograph in a male neonate shows that the nasogastric tube (arrow) that the nasogastric tube (arrow) deviates to the left of the thoracic deviates to the left of the thoracic vertebral bodies as it passes through vertebral bodies as it passes through the inferior portion of the thorax the inferior portion of the thorax

ProceduresProcedures Intubation and mechanical ventilationIntubation and mechanical ventilation

Endotracheal intubation and mechanical ventilation are Endotracheal intubation and mechanical ventilation are required for all infants with severe CDH who present in required for all infants with severe CDH who present in the first hours of life.the first hours of life.

Avoid bag-and-mask ventilation in the delivery room Avoid bag-and-mask ventilation in the delivery room because the stomach and intestines become distended because the stomach and intestines become distended with air and further compromise pulmonary function.with air and further compromise pulmonary function.

Avoid high peak inspiratory pressures and overdistension. Avoid high peak inspiratory pressures and overdistension. Consider high-frequency ventilation if high peak Consider high-frequency ventilation if high peak inspiratory pressures are required.inspiratory pressures are required.

Arterial catheter placement: Place an indwelling Arterial catheter placement: Place an indwelling catheter in the umbilical artery or in a peripheral catheter in the umbilical artery or in a peripheral artery (radial, posterior tibial) for frequent ABG artery (radial, posterior tibial) for frequent ABG monitoring.monitoring.

Central venous catheter placementCentral venous catheter placement Place a venous catheter via the umbilical or femoral vein Place a venous catheter via the umbilical or femoral vein

to allow for administration of inotropic agents and to allow for administration of inotropic agents and hypertonic solutions such as calcium gluconatehypertonic solutions such as calcium gluconate

Postnatal managementPostnatal management

Mechanical ventilationMechanical ventilation Nitric OxideNitric Oxide SurfactantSurfactant ECMOECMO surgerysurgery

Operative approachOperative approach

TThe defect in the he defect in the diaphragm diaphragm

Patch repair of a large defect

Repair of congenital Repair of congenital diaphragmatic hernia diaphragmatic hernia by VATSby VATS

Further Inpatient CareFurther Inpatient Care

Pulmonary carePulmonary care Some severely affected infants have chronic lung disease. These infants Some severely affected infants have chronic lung disease. These infants

may require prolonged therapy with supplemental oxygen and diuretics, an may require prolonged therapy with supplemental oxygen and diuretics, an approach similar to that for bronchopulmonary dysplasia.approach similar to that for bronchopulmonary dysplasia.

The use of steroids, particularly high doses for prolonged periods, is The use of steroids, particularly high doses for prolonged periods, is controversial and may actually hinder appropriate lung and brain controversial and may actually hinder appropriate lung and brain development.development.

Neurologic evaluationNeurologic evaluation Following recovery, a neurologist or developmental pediatrician should Following recovery, a neurologist or developmental pediatrician should

examine the patient, including an evaluation for CNS injury by head CT examine the patient, including an evaluation for CNS injury by head CT scanning.scanning.

Because the incidence of hearing loss is high, perform an automated Because the incidence of hearing loss is high, perform an automated hearing test prior to discharge.hearing test prior to discharge.

FeedingFeeding: Incidence of significant gastroesophageal reflux is very : Incidence of significant gastroesophageal reflux is very high. While most infants can be managed medically, surgical high. While most infants can be managed medically, surgical intervention with Nissen or Thal procedures is sometimes required.intervention with Nissen or Thal procedures is sometimes required.

Further Outpatient CareFurther Outpatient Care

GrowthGrowth: Failure to thrive is common in a significant : Failure to thrive is common in a significant percentage of survivors and is most common in severely percentage of survivors and is most common in severely affected infants. Possible causes include increased caloric affected infants. Possible causes include increased caloric requirements because of chronic lung disease, poor oral requirements because of chronic lung disease, poor oral feeding because of neurologic delays, and gastroesophageal feeding because of neurologic delays, and gastroesophageal reflux.reflux.

Developmental follow-upDevelopmental follow-up Because of the risk for CNS insult and sensorineural hearing loss, Because of the risk for CNS insult and sensorineural hearing loss,

infants should be closely monitored for the first 3 years of life, infants should be closely monitored for the first 3 years of life, preferably in a specialty follow-up clinic.preferably in a specialty follow-up clinic.

Reassess hearing at 6 months of life (and later if indicated) Reassess hearing at 6 months of life (and later if indicated) because late sensorineural hearing loss occurs in a high because late sensorineural hearing loss occurs in a high percentage of patients.percentage of patients.

Evaluate the patient prior to entering school to determine if any Evaluate the patient prior to entering school to determine if any subtle deficits may predispose the patient to learning disabilities.subtle deficits may predispose the patient to learning disabilities.

Prognosis Prognosis

Pulmonary recovery: When all resources, Pulmonary recovery: When all resources, including ECMO, are provided, survival including ECMO, are provided, survival rates range from 40-69%.rates range from 40-69%.

Long-term morbidity: Significant long-term Long-term morbidity: Significant long-term morbidity, including chronic lung disease, morbidity, including chronic lung disease, growth failure, gastroesophageal reflux, growth failure, gastroesophageal reflux, and neurodevelopmental delay, may occur and neurodevelopmental delay, may occur in survivors.in survivors.