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Congenital Diaphragmatic Hernia

Weili Chang M.D. pgy2

Introduction
Developmental defect in the diaphragm Abdominal visera herniate into chest during period of lung development when bronchi and pulmonary arteries are undergoing branching Usually on the left (right sided about 11% with ith similar i il morbidity bidit and d mortality, t lit bilateral 2%)

Anatomy
Defect usually posterolateral (Bochdalek hernia) Can be anterior (Morgagni hernia) Rarely central Failure of normal closure of pleuroperitoneal folds

Anatomy
Left side: stomach, stomach bowel bowel, possible liver involvement Right side: liver and bowel involvement

Pathogenesis

Defective migration g of muscle and nerve cell precursors to the diaphragm during formation Diaphragm develops anteriorly as a septum between the heart and live and then grows posteriorly Finial closure is at the left Bochdalek foramen between 8 and 10 weeks GA Bowel migrates from yolk sac to abdominal cavity at 10 weeks If bowel arrive before the foramen closes then hernia can occur

Incidence
1 in 2200 live births No association with gender 11% of f cases are right i ht sided id d 2% of cases are bilateral

Etiology
Genetic (familial cases tend to be isolated CDH without other anomalies and bilateral) Sporadic Vitamin Vit i A

Recurrence
In absence of family history risk of recurrence for future sibling is about 2% With family history there can be autosomal recessive, dominant or xx-linked inheritance pattern

Prenatal Diagnosis
Sensitivity is higher when there are associated abnormalities, higher GA, and experienced ultrasonographer Mean GA at diagnosis: 24 weeks

Ultrasound Findings
Left CDH: heterogeneous mass in chest, right mediastinal shift, fluid filled stomach in chest, p peristalsis of fluid filled bowel, may also have homogeneous mass continuous with intraintra-abdominal liver Right CDH: homogeneous mass (liver) in the right chest left mediastinal shift, pleural l l fl fluid, id b bowel l present, t gallbladder llbl dd i in chest is diagnostic of right side CDH

Differential Diagnosis

Diaphragmatic eventration : less severe effects on lung, rare Congenital g cystic y adenomatoid malformation Bronchopulmonary sequestration Bronchogenic cysts Bronchial atresia Enteric cycts Teratomas

Associated Anomalies

Associated anomalies seen in 25 to 57% but g goes up p to 95% with stillborn Associated anomalies more common with bilateral CDH Chromosomal anomalies: most common trisomies 21, 18, and 13 Stillborn anomalies: mostly neural tube defects (anencephaly, myelomeningocele, myelomeningocele, hydrocephalus, encephaloceles) encephaloceles ) and cardiac defects ( (VSD VSD, , vascular rings, i coarctation t ti of f the th aorta) t ) Midline anomalies: esophageal atresia atresia, , omphalocele, omphalocele, cleft palate

Associated Anomalies

10% CDH with associated anomalies have underlying syndrome Fryns y Apert Killian/Teschler Killian/ TeschlerTeschler -Nicola (Pallister (Pallister Pallister-Killian) BrachmannBrachmann -De Lange Goldenhar sequence Bechwith Widemann SimpsonSimpson -Golabi Golabi-Behmel

Prognostic Factors
Karyotype Liver herniation Lung L area t to head h d circumference i f ratio ti Lung volume Associated anomalies

Prognostic Factor: Liver Herniation


Most reliable p prenatal p predictor of p postnatal outcome of left CDH Absence: good prognosis, survival of 93% Presence: 43% survival Ultrafast fetal MRI: most accurate tool to demonstrate liver herniation Ultrasound with Doppler: visualize bowing of ductus venosis to the left of the midline or portal branches or hepatic veins to the lateral segment of left lobe above the diaphragm (ultrasound not as accurate as MRI)

stomach, small bowel, stomach bowel colon, colon and one kidney in the chest

Prognostic Factor: Lung Area to Head Circumference Ratio


Estimate of contralateral lung size and mediastinal shift at the level of atria on transverse scan of fetal thorax With advances, now the ratio is more indicative of morbidity rather than mortality Left CDH: CDH: calculated using a twotwodi dimensional i l perpendicular di l li linear measurement of right lung area divided by h d circumference head i f

Prognostic Factor: Fetal Lung Volume


No optimum equation Poor survival when fetal lung volume is less than 30% of expected (measured by MRI)

Pulmonary Hypoplasia

Herniation coincide with critical time of lung g development p (branching of bronchial and pulmonary artery) Pulmonary hypoplasia is most sever on ipsilateral side of CDH but b t can also l occur on contralateral t l t l side id Pressure and compression results in loss of pulmonary tissue and decreased bronchiolar branching Arterial branching also reduced but musculature of pulmonary arterials becomes hyperplasic (pulmonary h hypertension) t i ) Surfactant deficiency

Obstetrical Management

MRI for liver herniation Fetal echocardiography Karyotyping Biweekly nonstress testing and BPP starting 33 to 34 weeks GA Fetal ultrasound every two weeks starting 28 weeks of GA to assess fetal growth and amniotic fluid volume Planned induction at 38 to 39 weeks at a center with pedi surgery and neonatology services including ECMO Antenatal steroids especially if expecting preterm d li delivery

Obstetrical Management

In utero repair with patch not supported Fetal tracheal occlusion: obstructs normal egress g of lung g fluid, , increasing g transpulmonic p pressure large fluid filled lungs to help with lung growth (lack of lung expansion 2 to 7 days after tracheal occlusion is poor prognostic sign), but there is increased rate of premature deliveries and NIH study showed no survival advantage

Clinical Manifestations
Respiratory distress Barrel Barrel-shaped chest Scaphoid S h id abdomen bd Absence of breath sounds and presence of bowel sounds Displaced p heart sounds

Neonatal Management

Management of pulmonary HTN and hypoplasia followed by surgical repair Immediately y intubate ( (avoid bag g and mask and blow by O2 as not to inflate the stomach) Ventilated with low PIP to minimized lung g injury j y NG tube to continuous suction UAC U Ca and d UVC U C (b (blood ood gas, b blood ood p pressure, essu e, fluids u ds and meds, UVC may be difficult to position if there is liver herniation herniation) )

Neonatal Management

Maintain arterial mean blood pressure to minimized right to left shunting CDH registry reported that surfactan does not improve outcome but use if less than 34 weeks GA Pre and post ductal saturations Use enough pressure to keep sats above 80 80, barotrauma to hypo plastic lung contributes to up to 25% of CDH deaths

Neonatal Management

PIP more than 28 can be used transiently as a bridge to ECMO PEEP should be maintained at 3 to 5 Hyperventilation, hypobaric and alkalosis may decrease ductal shunting g and control p pulmonary y HTN but can cause barotrauma So far no randomized trial comparing HFOV to conventional, generally HFOV reserved for neonates who continue to have hypoxia and hypercube h b refractory f t to t conventional ti l vent t

Neonatal Management

Paralysis y and sedation to reduce air swallowing g Echo to assess cardiac anomalies and presence and severity of pulmonary hypertension and shunting ECMO: some criteria include inability to maintain predictably sats > 85%, PIP > 28 or MAP >15, hypotension resistant to fluid and isotropic, and inadequate O2 delivery with persistent metabolic acidosis, exclusion criteria vary but usually patient with lethal chromosomal abnormalities or severe intracranial hemorrhage are excluded

Neonatal Management

Surgery repair: usually with a patch, patch should be delayed until patient is stable and post op care are arranged

Complications
Recurrent pulmonary HTN Recurrent hernia (2(2-22% of all survivors, highest in ones requiring patch repair and ECMO) ECMO ) Patch P t h related l t di infections f ti GERD FTT IVH

References

Pas, et al. Ventilation and Spontaneous Breathing at Birth of Infants with Congenital Diaphragmatic Hernia. Journal of Pediatrics 2008: 29: 369369- 373 Hedrick et al. Liver positiona nd lung lung-toto-head ratio for prediction of extracorporeal membrane oxygenation and survival in isolated left congenital diaphragmatic hernia. Am J of Obstetrics and Gynecology. 2007; 197: 422. e1 422.e4. Jelin et al. Tracheal Occlusion for Fetal Congenital Diaphragmatic Hernia: The US Experience. Clinical Perinatology 36 (2009) 349349-361. Deprest et al. Changing Prespectives on the Perinatal Management of Isolated Congenital Diaphragmatic Hernia in Europe. Clinial Perinatology 36 (3009) 329 329-347 Ng et al. Reduction in VentilatorVentilator-induced Lung Injury Improves Outcome in Congenital Diaphragmatic Hernia? Pediatric Surgery 2008:24: 145145-50. Sokol et al. Fetal Pulmonary Artery Diameters and Their Association with Lung Hypoplasia and Postnatal Outcome in Congenital Diaphragmatic Hernia. Am J Obstet Gynecol 2002; 186: 10851085-90 Sokol S k l et t al. l Fetal F t l Pulmonary P l Artery At Diameter Di t Measurements M t as a Predictor P di t of f Morbidity M bidit in i Antenatally A t t ll Diagnosed Di d Congenital C it l Diaphragmatic Hernia: a Prospective Study. Am J Obstet Gynecol 2006; 195: 470470-7 Ruano et al. Quantitative Analyss of Pulmonary Vasculature by 3D3D- Power Doppler Ultrasonography in Isolated Congenital Diaphragmatic Hernia. Am J Obstet Gynecol 3006; 195: 17201720-8 MorenoMoreno -Alvarez et al. Association Between Intrapulmonary Arterial Doppler Parameters and Degree of Lung Growth as Measured by the Lung Lung-to to-head Ratio in Fetuses with Congenital Diaphragmatic Hernia. Ultrasound Obstet Gynecol 2008; 31: 164164-70 Moya et al. Evidence Based Management of Infants with Congenital Diaphragmatic Hernia. Semin Perinatol 2005; 29: 112 112-7 Vitali. Vitali . BenchBench-toto-bedside Review: Ventilator Strategies to Reduce Lung injuryinjury- Lessons From Pediatric and Neonatal Intensive Care. Crit Care 2005; 9: 177 177-83 Logan et al. Mechanical Ventilation Strategies in the Management of Congenital Diaphragmatic Hernia. Semin Pediatr Surg 2007; 16: 115 115-25

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