Management of Omphalocele: From Conception to Closure Terry L. Buchmiller, MD Brian Labow, MD...

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Management of Omphalocele:

From Conception to ClosureTerry L. Buchmiller, MD

Brian Labow, MD

February 13, 2013Department of Pediatric SurgeryDepartment of Plastic SurgeryAdvanced Fetal Care CenterBoston Children’s Hospital

Conflict of Interest Disclosure

We have no financial relationships with a commercial entity producing healthcare-related products and/or services.

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

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

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

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

• 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

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

• Chief of Surgery from 1947-1968

• “The Surgery of Infancy and Childhood” • Published in 1953• Exactly 1,000

pages• “The green bible”

History of Omphalocele at BCH

Dr. Robert E. Gross

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

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%

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

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

Associated Syndromes

• Beckwith-Wiedemann• Donnai-Barrow• Gershoni-Baruch• Fryns’• OIES• Pentology of Cantrell

Strongly consider prenatal genetics evaluation

Beckwith-Wiedemann Syndrome

• Macroglossia• Gigantism• Visceromegaly• Pancreatic islet cell

hyperplasia leading to hypoglycemia

• Predisposition to abdominal tumors

• Occurs in 1: 13,700

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

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

– Adrenocorticalwww.beckwith-wiedemannsyndrome.org

Donnai-Barrow

– Omphalocele– CDH• Absent corpus

callosum– Hypertelorism– Myopia– Sensorineural deafness– Likely autosomal

recessive; LRP2 gene

Fryns’ Syndrome

– CDH– Coarse facies– Acral

hypoplasia– Often

omphalocele– Limited survival

• Caudal Fold Defect– Infraumbilical Omphalocele (usually

not containing liver)– Cloacal Exstrophy (with ileal prolapse)– Epispadias– Diastasis of pubic rami– Imperforate anus– Spinal anomalies

Limb Body Wall Complex(Body Stalk Anomaly)

• Severe multiple congenital anomalies

• ~ 250 cases reported• Etiology remains unknown• Incompatible with survival

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

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

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

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

• 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

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

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

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%

MFM Perspective

• Group A: Abnormal karyotype– 91% requested termination– 8% fetal demise– Only 2 live births (trisomy 18) with

comfort care, ultimate neonatal death

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

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

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

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)

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

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

Ruptured Giant Omphalocele

Majority born prematurely

Typically fatal due to respiratory failure; sepsis

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

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

Role of Newborn US• Abd US if ? about

hepatic blood flow in giant defect

• Surgical presence paramount for effective study

• Assess in decubitus positions

Essential ManagementDOL 1

• Continue ABC’s• Protect membrane• Assist bedside providers in

understanding positioning concerns• PICC

Operative Planning

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)

When Considering Operative Repair

“Primum non nocere”

Avoid abdominal compartment

syndrome at all costs

...........And provide a cosmetic umbilicus

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

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

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”

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

• 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

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

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

• 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

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

MEDIUM OMPHALOCELE: Schuster approach

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

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

“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

Eschar Formation

Occasionally, brace used for protection...

Epithelialization

• Caloric needs often very “robust”

• Feeding tube supplementation

• Caloric needs often very “robust”

• Supplemental tube feeds often needed

Potions to “Paint and Wait”

• Escharotic Agents– Mercurachrome – Silver nitrate

solution– Betadine– Silvadene

Mecurachrome

2% Merbromin solution abandoned d/t mercury poisoning

0.25% solution used in Europe BID w/o complications

Rare contemporary use

Silver Nitrate Solution

• 0.5% solution• Bacteriostatic• Encourages

epithelialization• Hypotonic; draws Na into

dressing; monitor serum Na

• Stains linens, skin• No longer recommended

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

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

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

“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

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

Skin Laxity

Epithelialized Sac Suspension

Utilized to promote visceral reduction preoperatively to lessen time of mesh; potentially decrease infection risk

Silo Reduction

Final Closure

• Prepare for full complement of closure techniques

• Partnership with Plastic Surgery team in select cases

Surgical Management of Omphalocele: A Plastic Surgeon’s Perspective

Brian I. Labow, MD, FACS, FAAP

Department of Plastic SurgeryChildren’s Hospital Boston

Harvard Medical School

• 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

IntroductionIntroduction

• General considerations• Tools/techniques • Adjuvant procedures• Summary

OutlineOutline

• Usually not an emergency• Most cases can be

managed with “conventional approaches”

• Circumstances may mandate change in course…

General Comments

• Medically unstable• Damage control (e.g. ruptured

membrane, silo disruptions)• Incomplete reduction • Extreme visceral-peritoneal

disproportion

Clinical Situation?

Tools and TechniquesTools and Techniques

• 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)

Negative-Pressure Wound Therapy Negative-Pressure Wound Therapy

• Mechanical process to increase surface area of adjacent tissues

• Examples: Growth, Silo, External Skin closure devices

• Adjunct to flap transfer• Progressive process takes time

Tissue-ExpansionTissue-Expansion

• Tissue expanders require a clean field with minimal inflammation

• Epidermis thickens, dermis and fat atrophy, muscle thins, angiogenesis

• Multiple expanders, small, frequent fillings

Tissue-ExpandersTissue-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)

• 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

• Relaxing incision(s) separating rectus sheath from ext obliq aponeurosis

• Autologous tissue, 1-stage• Skin deficit?• Large experience in adults

Component SeparationComponent 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

Component SeparationComponent Separation

• Usually a lifeboat• Allows egress of fluid,

visualization of bowel• Used with NPWT • Lasts 3-4

months….hernia• Cost Vicryl™ 15x 15”

$1800*

Absorbable MeshAbsorbable Mesh

* BCH list price 2013

• Allows tissue ingrowth, stronger

• Higher rate of enterocutaneous fistulae

• Onlay support• Cost e.g. Marlex™

10x14” $500

Non-absorbable, MeshedNon-absorbable, 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™

Non-absorbable, Non-meshedNon-absorbable, Non-meshed

• 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

Biological MaterialsBiological 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*

Biological MaterialsBiological Materials

• Local tissues usually sufficient

• Mobilization wide undermining

• Can be facilitated with relaxing incisions

FlapsFlaps

Zama et al. Br Assoc Plas Surg (2004) 57, 749–753

FlapsFlaps

Br Assoc Plas Surg (2004) 57, 749–753

• Skin closure: secondary but important part of reconstruction

• Umbilicoplasty if possible

• Secondary procedures: hernias, bulges, hypertophic/depressed scar

Adjunctive ProceduresAdjunctive Procedures

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

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

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

Neurodevelopmental

Median age at evaluation 12 mo• Motor skills:

– Normal 40%– Mildly delayed 13%– Severely delayed

• Cognitive/Language skills:– Ave 40%– Mildly delayed 13%– Severely delayed 40%

Danzer, Flake, Adzick, Hedrick. JPS 2010

Of 6 with severe delays:2 autism4 tracheostomy1 Williams syndrome

Pulmonary Hypoplasia

• Definition nebulous, often based on clinical course

• Require long-term vent support• ? “permanently limited” reserve• High postoperative mortality 30-

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

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

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

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 morbidityNumbers small, but.....a start

Danzer, Victoria,Hedrick. JPS 2012

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

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?

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.”

Long-Term F/U Needed

• 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

Summary

Thank You!

Management of Omphalocele: From Conception to Closure Terry L. Buchmiller, MD Brian Labow, MD...

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