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Management of Omphalocele: From Conception to Closure

Management of Omphalocele: From Conception to Closure. Terry L. Buchmiller, MD Brian Labow, MD February 13, 2013 Department of Pediatric Surgery Department of Plastic Surgery Advanced Fetal Care Center Boston Children’s Hospital. Conflict of Interest Disclosure.

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Management of Omphalocele: From Conception to Closure

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  1. Management of Omphalocele:From Conception to Closure Terry L. Buchmiller, MD Brian Labow, MD February 13, 2013 Department of Pediatric Surgery Department of Plastic Surgery Advanced Fetal Care Center Boston Children’s Hospital

  2. Conflict of Interest Disclosure We have no financial relationships with a commercial entity producing healthcare-related products and/or services.

  3. Omphalocele Definition • Central abdominal wall defect • Herniation of abd contents into umbilicus • Covered by membrane/ large peritoneal sac • Not covered by skin • Composed of fused peritoneum and amniotic membrane • Delicate avascular wall, 1 mm thick • Occasionally intervening compartment containing Wharton’s jelly • Umbilical cord typically inserts slightly inferior on sac

  4. Embryology of Abdominal Cavity • Celomic cavity undergoes forward expansion into umbilical cord between wk 6-10 of fetal life • Two lateral folds form pleuroperitoneal canals; destined to fuse with cranial and caudal folds

  5. Embryology • Omphalocele results from defect in migration of lateral folds very early in embryogenesis ~wk 3 • Always occur at umbilicus • Rectus muscles insert more laterally on costal margins • Due to early event, often accompanied by other defects

  6. History of Omphalocele • Described in 16th Century by Ambrose Pare in printed works • 1802: Hey reported first successful repair • 1887: Olshausen described skin flap coverage after removal of membrane • 1899: Alfield described painting sac with alcohol to produce eschar, awaiting contraction and epithelialization

  7. History of Omphalocele • 1953: Max Grob reported use of mercurachrome with toxic effects later described • 1967: Schuster introduced staged reduction using prosthetic mesh as he noted abdominal cavity did not enlarge with skin flap coverage alone

  8. History of Omphalocele 2013: Currently no closure technique universally accepted with ingenious methods still reported Partial hepatectomy Lateral relaxing incisions Division of rectus muscles Pneumoperitoneum • Tissue expanders • VAC dressing • Skin grafting • Alloderm

  9. History of Omphalocele at BCH • Chief of Surgery from 1947-1968 • “The Surgery of Infancy and Childhood” • Published in 1953 • Exactly 1,000 pages • “The green bible” Dr. Robert E. Gross

  10. History of Omphalocele at BCH • Abdominal organs “directly exposed to view as if exhibited in a showcase’ • “Considerable judgment must be exercised in determining how perfect of a repair should be attempted” Dr. Robert E. Gross

  11. Current Demographics • Occurs in 1 in 3,000 fetuses • 1 in 5,000 live births • Slight male predominence • No racial predilection • Risk of preterm birth 25-65% • IUGR in 6-35%

  12. Etiology • Several animal teratogenic models, but none truly recapitulate omphalocele • Very rare familial occurrence, even more rare in twins • No specific gene or environmental cause • Potential assoc with EtOH in 1st trimester; heavy smokers (Natl Birth Defects Study) • Can occur as part of syndromes Remains unknown

  13. Associated Conditions • Cardiac ~ 45% • Chromosomal defects (T18, 21) in 30-40% • Intestinal malrotation in 28% • Cryptorchidism • Increased incidence of inguinal hernias; Meckel’s diverticulum • Pulmonary hypoplasia • Musculoskeletal/ neural tube defects rare

  14. Associated Syndromes • Beckwith-Wiedemann • Donnai-Barrow • Gershoni-Baruch • Fryns’ • OIES • Pentology of Cantrell Strongly consider prenatal genetics evaluation

  15. Macroglossia Gigantism Visceromegaly Pancreatic islet cell hyperplasia leading to hypoglycemia Predisposition to abdominal tumors Occurs in 1: 13,700 Beckwith-Wiedemann Syndrome

  16. Genetic Testing for BWS • ~85% cases are sporadic • ~15 % inherited with 50% recurrence risk • Dx by analysis of chromosome 11p15 by methylation-specific PCR to detect methylation errors, abnormal copy number • If negative, sequencing of CDKN1C recommended • 1-3 wk turnaround for prenatal dx on amniocytes only • Children with features consistent with BWS, but with negative genetic test results should receive the same medical management as those with a confirmed genetic diagnosis

  17. Tumor Screening 10% develop malignancy Wilms in 5-7% Most prior to age 4 US screen q 3 mo By age 8, 95% occur Hepatoblastoma AFP q 6 wk until age 4 US as above Adrenocortical Beckwith-Wiedemann Syndrome www.beckwith-wiedemannsyndrome.org

  18. Donnai-Barrow • Omphalocele • CDH • Absent corpus callosum • Hypertelorism • Myopia • Sensorineural deafness • Likely autosomal recessive; LRP2 gene

  19. Fryns’ Syndrome • CDH • Coarse facies • Acral hypoplasia • Often omphalocele • Limited survival

  20. OEIS • Caudal Fold Defect • Infraumbilical Omphalocele (usually not containing liver) • Cloacal Exstrophy (with ileal prolapse) • Epispadias • Diastasis of pubic rami • Imperforate anus • Spinal anomalies

  21. Limb Body Wall Complex(Body Stalk Anomaly) • Severe multiple congenital anomalies • ~ 250 cases reported • Etiology remains unknown • Incompatible with survival

  22. Limb Body Wall Complex(Body Stalk Anomaly) • Encephalocele • Thoraco- and/or abdominoschisis • Limb defects • +/- Facial clefts • Short umbilical cord • Severe spinal curvature • Fetus appears “stuck” to placenta

  23. Pentology of Cantrell • “Cephalic Fold Omphalocele” • Supraumbilical abdominal wall defect typically containing liver • Heart or ventricular diverticulum in sac through pericardial defect • Central diaphragmatic tendon defect • Lower sternal cleft • Intracardiac anomaly

  24. Prenatal Assessment of Omphalocele • Elevated AFP (serum/AF); AChE (AF) • US • MRI • ECHO • Amniocentesis / CVS • Abnormal karyotype in 30% • More common in those with small defects

  25. US Screening • Increasing dx in 1st trimester due to nuchal translucency screening between 11-14 wks • If seen very early in 1st trimester, repeat US in 7-10 d to assure not “physiologic” • Stability of defect anticipated • Study of choice in prenatal period to assess fetal growth, AF, delivery planning 13 wk US

  26. MRI • Preferred at >16 wk gestation • Initial MRI exam useful in detecting underlying syndromes • Not typically repeated unless concern for clinical change Estroff, Buchmiller, et al. J Radiol In press

  27. Giant Omphalocele MRI Large omphalocele containing liver (L) and small bowel (SB) Note umbilical cord (UC) inserting into inferior aspect the omphalocele Assess hepatic vasculature ? stretched L UC SB

  28. MFM Perspective • Kings College London • Referral Fetal Medicine Centre • Retrospective study from 1991-2002 • 445 pts • 3 cohorts formed based on karyotype assessment, if obtained Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006

  29. MFM Perspective • Group A: Abnormal karyotype • N=250 (56%) • Trisomy 18 most common in 63% • Trisomy 13 in 17% • Trisomy 21 in 4% • Turner’s syndrome in 6% • Triploidy in 5% • Rare chromosomal deletions in 5% • Additional structural anomalies in 73% Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006

  30. MFM Perspective • Group A: Abnormal karyotype • 91% requested termination • 8% fetal demise • Only 2 live births (trisomy 18) with comfort care, ultimate neonatal death Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006

  31. MFM Perspective • Group B: Normal karyotype • N=135 (30%) • 54% had structural anomalies • 47% TOP (usually not isolated anomaly) • 14% fetal demise • 31% live births • 8% lost to F/U Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006

  32. MFM Perspective • Group C: Karyotype declined • N=60 (14%) • 63% structural anomalies • 55% TOP • 13 % fetal demise • 19% live births • 13% lost to F/U Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006

  33. MFM Perspective: Take home points • Less than 10% of antenatal diagnosed pts came to operative repair • 55 live births • 11 died preoperatively (anencephaly, major CHD) • 44 repaired, all survived • Pts cared for by pediatric surgeon/ tertiary care providers are a very select group Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006

  34. Preparation for Delivery • Coordinated delivery with MFM, NICU • Cognizant of travel plans should preterm labor occur • Ave age of delivery 36.6 wks • Ave birthweight 2.9 kg • Unclear need for C section unless defect >5 cm • Delivery at tertiary care center essential (if not opting for comfort care)

  35. Delivery Room Management • Surgical presence at delivery optimal • Observe C section • ABC’s • Is sac intact? • Place NGT • Stabilize liver in extreme cases (Kerlix roll) • Provide moist coverage of membrane • Enable family celebration of birth

  36. Initial NICU Management • Maintain temperature • Respiratory support • PE to rule out associated (midline) anomalies • Trisomy 13, 18, 21 • Beckwith-Wiedemann • Rectal exam R/O imperforate anus/ evacuate meconium • Protect sac with xeroform/ moist gauze, especially under warming lights..... • No urgency for repair unless sac ruptured

  37. Ruptured Giant Omphalocele • Majority born prematurely • Typically fatal due to respiratory failure; sepsis

  38. Subsequent Management • Assess size of defect • Small, medium, large, giant • Is the hepatic vasculature at risk? • Reassess potential for associated conditions, even if “cleared” during fetal period • Prematurity may alter surgical closure plan • Cardiac disease • Urgent genetics consult if life threatening association suspected

  39. Postnatal ECHO • Still repeated even if prenatal study nl • Most common defect VSD • ECHO windows often compromised by inability to visualize in substernal area • May need surgical presence to facilitate performance of study and protect sac

  40. Role of Newborn US • Abd US if ? about hepatic blood flow in giant defect • Surgical presence paramount for effective study • Assess in decubitus positions

  41. Essential ManagementDOL 1 • Continue ABC’s • Protect membrane • Assist bedside providers in understanding positioning concerns • PICC Operative Planning

  42. Historic Notes on Omphalocele Repair • Gross noted postoperative condition after repair could be quite precarious; whenever a large portion of liver contained a grave outlook was expected • Essential to devise a method to avoid intra-abdominal crowding of organs at first operation • Diaphragm displaced upward causing respiratory disturbance, cyanosis, death • Pressure on IVC impedes return of blood leading to circulatory collapse • Pressure on stomach/intestine leads to partial / temporary obstruction (pre-PN)

  43. When Considering Operative Repair“Primum non nocere” Avoid abdominal compartment syndrome at all costs ...........And provide a cosmetic umbilicus

  44. Methods to Assess Potential Abdominal Compartment Syndrome • Saphenous vein IV that will not drip with gravity • Bladder pressure via foley or NG pressure > 20 mmHg • PE • Clinical judgment

  45. Adjunctive Points to Consider During Closure • Most do not recommend a Ladd procedure or appendectomy • If testicle intraabdominal, place near ring; in most cases scrotal descent will occur by age one year; NO orchidopexy • Consider gastrostomy if significant cardiopulmonary compromise • Be gentle on liver; do not kink HV, PV, or rupture capsule....Budd Chiari reported

  46. Omphalocele Closure Options • Primary closure • Immediate staged closure with mesh prosthesis for serial reduction • Delayed closure • Operative skin closure, period of waiting, later definitive closure with repair large ventral hernia • “Paint and Wait”

  47. Can Fetal MRI Predict Closure? • N=9 (Mixed GS and omphalocele) • MRI volumetry performed; manual 3D tracing • Calculated Exteriorized Ratio= Exteriorized Viscera/Volume Abdominal Cavity • ER 1.39 in staged closure, ER 0.33 in closure • Quantifies clinical judgment • Very limited study, but increasing interest Takada, Hamada, Kamiyama. JPS 2006

  48. Omphalocele Closure Options • Primary closure • Immediate staged closure with mesh prosthesis for serial reduction • Delayed closure • Operative skin closure, period of waiting, later definitive closure with repair large ventral hernia • “Paint and Wait”

  49. Small Omphalocele • Occasionally small irregular liver segment in sac • If bowel, can reduce and tie with umbilical tape if associated disease • Genetics consult as associated syndromes more common

  50. Schematic of Primary Closure Dr. Gross’ • Skin edges freed • Sac removed • Leave on liver if difficult to peel off to avoid bleeding • Viscera reduced • Peritoneum closed • Fascia closed • Often difficult to oppose upper rectus • Skin closed

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