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
Tissue expanders
VAC dressing
Skin grafting
Alloderm
Partial hepatectomy
Lateral relaxing incisions
Division of rectus muscles
Pneumoperitoneum

9. History of Omphalocele at BCH
Chief of Surgery from
“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. Remains unknown 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. Strongly consider prenatal
Associated Syndromes
Beckwith-Wiedemann
Donnai-Barrow
Gershoni-Baruch
Fryns’
OIES
Pentology of Cantrell
Strongly consider prenatal
genetics evaluation

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

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. Beckwith-Wiedemann Syndrome
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

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 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. Estroff, Buchmiller, et al. J Radiol In press
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
liver, gb, sb UC SB

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

29. Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006
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. Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006
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. Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006
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. Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006
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 Management DOL 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

51. 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”

52. Silastic Silo If used, suture to abd wall Apply abx ointment at edges
0.007 in Dacron reinforced Silastic alternative
Assess reduction 30 min post procedure
Assess for tightening BID

53. MEDIUM OMPHALOCELE: Schuster approach
DOL 1
DOL 2

54. 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”

55. First Stage Skin Closure
Liberate skin edges
Can close skin over sac if adherent
Never free up skin over chest further than necessary as to not displace viscera during reduction
Dr. Gross

56. “Paint and Wait”
Can be utilized if significant cardiac disease, prematurity, chromosomal anomaly to buy time, even in small defects
Preferred in most giant omphalocele pts

57. Occasionally, brace used for protection...
Eschar Formation
6 wks
Occasionally, brace used for protection...

58. Epithelialization 3 mo Caloric needs often very “robust”
Feeding tube supplementation
Caloric needs often very “robust”
Supplemental tube feeds often needed
3 mo

59. Potions to “Paint and Wait”
Escharotic Agents
Mercurachrome
Silver nitrate solution
Betadine
Silvadene

60. Mecurachrome
2% Merbromin solution abandoned d/t mercury poisoning 0.25% solution used in Europe BID w/o complications Rare contemporary use

61. Silver Nitrate Solution
Bacteriostatic
Encourages epithelialization
Hypotonic; draws Na into dressing; monitor serum Na
Stains linens, skin
No longer recommended

62. Whitehouse, Sato, Arca. JPS 2010
Betadine
Promotes epithelialization and escharizaton
10 yr review; 6 GO pts
10% povidone-iodine used qD or qoD
Diluted 1:4 with saline in 5, 1:10 in one
TFT’s weekly inpt; mo as outpt
Transient elevation TSH noted, normalized by following wk; Nl free T4, thyroxine
No thyroid replacement therapy needed
Frequency of dressing changes decreased in one
Safe, but monitoring recommended
Whitehouse, Sato, Arca. JPS 2010

63. Silvadene Bacteriostatic, used in burn sepsis prevention
May impair G6PD
Methemoglobinemia, hemolysis, hyperosmolality
2 pt with toxic serum levels (x200 adult) reported by Lander JPS 2010
No toxic sxs (incr LFT, seizures)
Consider monitoring CBC, silver levels, very thin layer, or avoidance

64. Silvadene 20 infants with defect >10 cm
20 gm spread over thin layer, gauze cover qD
Mean use 5 mo at cost $1/day
Turns eschar black due to silver
Silver levels not monitored, but no toxicity demonstrated
Routine use supported
Ein, Langer. JPS 2011

65. “Paint and Wait” Dr. Gross’ observations
Mother apt to be apprehensive about potential rupture of protruding mass; reassure her this has never happened
Considerable distension during crying or straining
Child may be bathed
A 4-6 inch Ace wrap serves admirably
Wait until the abdominal cavity has grown large enough so that it can receive the organs without crowding

66. Dr. Gross’ Observations
Plan final closure when....
the sac wall can be readily picked up between the examining fingers
the viscera can be pushed back into the abdominal cavity

67. Skin Laxity

68. Epithelialized Sac Suspension
Utilized to promote visceral reduction preoperatively to
lessen time of mesh; potentially decrease infection risk

69. Silo Reduction

70. Final Closure Prepare for full complement of closure techniques
Partnership with Plastic Surgery team in select cases

71. Surgical Management of Omphalocele: A Plastic Surgeon’s Perspective
Brian I. Labow, MD, FACS, FAAP
Department of Plastic Surgery
Children’s Hospital Boston
Harvard Medical School

73. Introduction Heterogenous population and associated anomalies common
Many approaches, techniques and tools
No single approach will suit all patients
Outcome data based limited by numbers and confounding variables 73

74. Outline General considerations Tools/techniques Adjuvant procedures
Summary

75. General Comments Usually not an emergency
Most cases can be managed with “conventional approaches”
Circumstances may mandate change in course…

76. Clinical Situation? Medically unstable
Damage control (e.g. ruptured membrane, silo disruptions)
Incomplete reduction
Extreme visceral-peritoneal disproportion

77. Tools and Techniques

78. Negative-Pressure Wound Therapy
NPWT/VAC™ hopefully not necessary!
Decrease edema and bacterial colonization accelerate granulation
Used with absorbable mesh, biological fascial substitute
Bridge to definitive reconstruction (Kilbride et al. J Ped Surg (2006) 41, 212–215)

79. Tissue-Expansion
Mechanical process to increase surface area of adjacent tissues
Examples: Growth, Silo, External Skin closure devices
Adjunct to flap transfer
Progressive process takes time

80. Tissue-Expanders
Tissue expanders require a clean field with minimal inflammation
Epidermis thickens, dermis and fat atrophy, muscle thins, angiogenesis
Multiple expanders, small, frequent fillings

81. Tissue-Expanders
Subcutaneous, submuscular and intraperitoneal placement all reported
Small case series, longest follow-up 3 yrs
(Tanenbaum et al. Plas Rec Surg (2007)120,1564–7)

82. Tissue-Expanders Useful in a subset of patients
Additional GA, time and good local tissue conditions required
Judgment in rate of expansion
Extrusion and infection most frequent complications

83. Component Separation
Relaxing incision(s) separating rectus sheath from ext obliq aponeurosis
Autologous tissue, 1-stage
Skin deficit?
Large experience in adults

84. Component Separation
1 series of 10 consecutive omphalocele patients (mean age 6.5 months) Van Eijck et al. J Ped Surg (2008)
Mean defect size 8 cm
Required temporary prosthetic in 1 case
Complications in 3 patients (skin necrosis, hematoma, infection)
Mean follow-up 2 years, no hernias

85. Absorbable Mesh Usually a lifeboat
Allows egress of fluid, visualization of bowel
Used with NPWT
Lasts 3-4 months….hernia
Cost Vicryl™ 15x 15” $1800*
* BCH list price 2013

86. Non-absorbable, Meshed
Allows tissue ingrowth, stronger
Higher rate of enterocutaneous fistulae
Onlay support
Cost e.g. Marlex™ 10x14” $500

87. Non-absorbable, Non-meshed
Temporary use silo construction (e.g. Silastic™)
No ingrowth, minimal adhesions
Permanent use (e.g. Goretex™) higher hernia rate?
Cost* $600 for 10x15”Goretex™
* BCH list price 2013

88. Biological Materials
Variety of freeze-dried, acellular dermal or intestinal products (e.g. Alloderm™, Surgisis™)
Inlay graft or onlay above fascia
Neovascularized, tissues replaced by native cellular ingrowth

89. Biological Materials
Small series/case reports in pediatric literature (Alaish et al. J Ped Surg (2006) 41, E37–E39)
Variable reports in adult abdominal wall reconstruction literature
Cost has come down, 5x10” sheet of Alloderm™ ~$1800*
* BCH list price 2013

90. Flaps Local tissues usually sufficient Mobilization wide undermining
Can be facilitated with relaxing incisions
Zama et al. Br Assoc Plas Surg (2004) 57, 749–753

91. Flaps
Br Assoc Plas Surg (2004) 57, 749–753

92. Adjunctive Procedures
Skin closure: secondary but important part of reconstruction
Umbilicoplasty if possible
Secondary procedures: hernias, bulges, hypertophic/depressed scar

93. Adjunctive Procedures

94. Rijwani, Davenport, Dawrnat. et al. J Pediatr Surg 2005
Long-Term Follow Up
Postnatal survival rates 70-95%
Mortality related to associated cardiac and chromosomal anomalies
Rijwani, Davenport, Dawrnat. et al. J Pediatr Surg 2005

95. Incidence of Bowel Obstruction
170 abd wall defects; 111 w/ omphalocele
10 yr median F/U
12/92 (13%) incidence of adhesive SBO
85% occurred in 1st yr
88% underwent laparotomy
Sepsis and fascial dehiscence risk factors in entire cohort
Van Eijck, Wijnen, van Goor. JPS 2008

96. Danzer, Flake, Adzick, Hedrick. JPS 2010
Neurodevelopmental
Cohort from CHOP with GO
31 pts
Overall survival 81%
20 survivors enrolled in prospective F/U
Age > 6m, had Bayley (BSID-II,-III)
Danzer, Flake, Adzick, Hedrick. JPS 2010

97. Danzer, Flake, Adzick, Hedrick. JPS 2010
Neurodevelopmental
Median age at evaluation 12 mo
Motor skills:
Normal 40%
Mildly delayed 13%
Severely delayed 47%
Cognitive/Language skills:
Ave 40%
Mildly delayed 13%
Severely delayed 40%
Of 6 with severe delays:
2 autism
4 tracheostomy
1 Williams syndrome
Danzer, Flake, Adzick, Hedrick. JPS 2010

98. Pulmonary Hypoplasia
Definition nebulous, often based on clinical course
Require long-term vent support
? “permanently limited” reserve
High postoperative mortality 30-60%

99. Assessment of Early Pulmonary Function in GO
N=14, mean age 19 mo
PFT’s
Spirometry
Fractional lung volume assessment
Bronchodilator responsiveness
Passive respiratory mechanics
Danzer, Hedrick, Panitch. JPS 2012

100. Assessment of Early Pulmonary Function in GO
FVC, mean Forced Exp Vol, TLC
FRC normal
Restrictive pattern demonstrated
responsiveness to bronchodilators
Reduced lung compliance
Undetermined clinical significance
Danzer, Hedrick, Panitch. JPS 2012

101. Can Pulmonary Function be Predicted Prenatally?
Fetal MRI assessed at ~26 wks (N=17)
Observed/Expected TLV calculated vs. age-matched fetal nomograms
Mean O/E TLV 52% (+/- 17%)
Age at delivery 37 wk
Survival 94%
Danzer, Victoria,Hedrick. JPS 2012

102. Can Pulmonary Function be Predicted Prenatally?
88% staged reduction
Infants <50% O/E TLV
Lower Apgar scores
Prolonged ventilatory support
Delayed oral intake
Longer hospitalization
Fetal MRI predictive of postnatal morbidity
Numbers small, but.....a start
Danzer, Victoria,Hedrick. JPS 2012

103. QOL Studies Tunell series of mixed abd wall defects
88% reported good health; 80% good QOL
40% concerned about height, inadequate in sporting/ social activities
Educational levels equal to general population
Many report absence of umbilicus caused psychologic distress

104. Long Term F/U Challenges
Most case reports, small series, single center F/U
Typically includes gastroschisis
Definition of giant omphalocele diverse
Are defects containing the whole liver/all viscera different?

105. Parental Perspective
“People turn to social media for answers which can be greatly helpful, but also dangerous as parents generalize their experience and their child's condition in counseling other parents.
I think the world, is in need of some really good long term follow up on these kids to change the perspective surrounding survival and short/long term complication statistics.”

106. Long-Term F/U Needed

107. Summary
No single “right way” to manage but optimistic outcome in absence of severe congenital heart disease/chromosomal anomalies
Situation dependent
Numerous tools/techniques available
Outcome data needed

108. Thank You!