PediatricOmphaloceleandGastroschisis

Author:JamesGGlasser,MD,MA,FACSChiefEditor:TedRosenkrantz,MDmore...
Updated:Apr28,2015

Background
Ventralbodywalldefectscompriseagroupofcongenitalmalformationsthat
includesgastroschisisandomphalocele,whicharerelativelycommon,andectopia
cordis,bladderexstrophy,andcloacalexstrophy,whichareextremelyrare.The
prevalenceofgastroschisisisincreasingthus,itisthecongenitalanomalymost
frequentlyencounteredbypediatricsurgeons. [1]
Reportedincidenceofabdominalwalldefectsisasfollows:
Gastroschisis1casein2000births
Omphalocele1casein4000births
Bladderexstrophy1casein40,000births
Ectopiacordis1casein125,000births
Cloacalexstrophy1casein200,000births
Althoughthetreatmentofthesebabiesisthetaskofneonatologistsandpediatric
surgeons,itbehoovespediatricianstobecomefamiliarwiththeclinicalspectrumof
abdominalwalldefectssothattheyarepreparedtocareforthesechildrenlaterin
life.Sometimes,gastroschisisisaseasytorepairasasurgicalincision.Insuch
cases,routinepostnatalcaremaysufficehowever,ifmultipleproceduresare
requiredoriftheabdominalwalldefectisonecomponentofamultifaceted
anomaly,furthercarebyspecialistsfamiliarwiththechild'sspecificproblemsmay
berequired.
Ababybornwithgastroschisismayhavemalabsorption,becauseinuteroexposure
oftheintestinetoamnioticfluidmaycausemucosalormuscularisdysfunction,or
theanatomicdefectmayconstrictthemesenterycausingischemiaanddiminished
intestinallength.Inaddition,theremaybeluminalobstructionfromadhesionsor
bandsassociatedwithmidgutmalrotation,whichaccompaniesalltheanomaliesin
whichtheintestineremainsoutsidethenascentabdominalcavity.Midgutvolvulus,
thecomplicationmostfearedinbabieswithmalrotation,istheoreticallypossiblebut
unlikely,becauseofpostsurgicaladhesions.Atypicalappendicitismayoccur,
however,iftheabnormallylocatedappendixisnotremoved.Inaddition,children
withgastroschisisfrequentlyhavegastroesophagealreflux,whichusuallyresponds
tomedicaltherapyfundoplicationisrarelynecessary.Hirschsprungdisease,also,
maycontributetothesebabies'intestinaldysfunction.
SeetheMedscapeDrugs&DiseasesarticlesOmphaloceleandGastroschisisas
wellasinformationfromtheChildren'sHospitalofPhiladelphiaonOmphalocele
andGastroschisis.

Pathophysiology
Embryology [2]
Initially,theembryoisaflatdisksurroundedbytheumbilicalring.Gastrulation
proceedsinacephalocaudaldirectionandconvertstheoriginaltwolayereddiskinto
threegermlayers.Thedorsallayeristheectoderm,whichbecomeseitherthe
centralnervoussystem(CNS)ortheskinandsensoryorgans.Themiddlelayeris
themesoderm,whichformstheskeleton,connectivetissue,andthecardiovascular
andurogenitalsystems.Theventrallayeristheendoderm,whichdevelopsintothe
intestines,liver,gallbladder,andpancreas.
Proliferationoftheneuroectodermandtheunderlyingmesodermpushesthe
embryonicdiskabovetheumbilicalringlikeasproutingmushroom.Theamnion
bulgesovertheembryoandfuseswiththeyolksacandbodystalk.Astheembryo
elongates,longitudinalenfoldingofitslateralwallscreatestheappearanceofa
ridgedcylinder.Ventralenfoldingseparatesthethoracicandabdominalcavities
fromtheextraembryonicspace.Withcaudalenfolding,theembryobeginsto
resembleafetus.
Theyolksacisincorporatedintothehindgutandtheallantoisisincorporatedinto
theurogenitalsinuscreatingthecloaca.Thecloacalmembraneseparatesthe
coelomfromtheamnioticcavity.
Themesoderminvadesthecloacalmembraneandunitesthegenitaltuberclesto
formtheventralwalloftheurogenitalsinus.Asthehindgutelongates,

condensationofmesodermanteriorlyformstheurorectalseptum.Thebodyfolds
(cephalic,caudal,andlateral)unitewheretheamnioninveststheyolksacandbody
stalk.
Fusionisacomplexprocessthatalsooccursinformationoftheneuraltube,palate,
andlip.Intheseareas,asurfaceglycoproteinpromotesadhesionthen,planned
cellulardeath(apoptosis)andmigrationcreatecontinuitybetweentheopposing
surfaces.
Inananalogousfashion,theamnionandthelateralfoldsofthebodywallcoalesce
abouttheattenuatedyolksac,constrictingtheumbilicalring.Thisprocessrequires
a"componentseparationandreorganization"fortheopposingsidestobecomea
continuouslayer.Developmentofthegut,suspendedonitsmesentery,occurs
coincidentallywiththeseevents.
Bythesixthweekofintrauterinelife,rapidgrowthoftheliverandintestinescauses
herniationofthemidgutthroughtheumbilicalring.
Bythetenthweek,theabdominalcavityhasenlargedsufficientlytoaccommodate
thereturnofthemidgut.
Rotationandfixationoftheduodenumandtheproximalcolonoccurastheintestine
returnstotheabdominalcavity.

Omphalocelesandgastroschisis
Omphaloceles
Inbabieswithomphaloceles,thisreturntotheabdominalnevertakesplacethus,
theintestinestayswithintheconfinesoftheumbilicalring.Seetheimagebelow)

Babywithanintactomphalocele.

Thereisevidencetosuggestthatomphaloceleshaveageneticetiology,asfollows:
Omphalocelesareassociatedwithincreasedmaternalage.
Omphalocelesoccurintwins,consecutivechildren,anddifferentgenerations
ofthesamefamily.
Omphalocelesareassociatedwithtrisomies13,18,and21(in2550%of
cases)andwithBeckwithWiedemannSyndrome
Gastroschisis
Ingastroschisis,thereappearstobeaweaknessinthebodywallperhapscaused
bydefectiveingrowth,cellulardeath,orimpairedcellularfusion,suchthatthe
intestinesareextrudedthroughthedefectiveareaintotheamnioticcavity.Seethe
imagebelow.

Babywithgastroschisis.

Gastroschisisisassociatedwithyoungmaternalageaswellaslowgravida,
prematurity,andlowbirthweightbabies,secondarytoinuterogrowthretardation.
Clusteringofcases(numberandseverity)suggestsacomplexetiology,suchas
environmentalfactorsactinguponsusceptiblehosts.

Otherabdominalwalldefects
Thereisavastspectrumofbodywalldefects,whichvaryintheiranatomiclocation
andsizeofthedefect.Issuestoconsiderincludethefollowing:
Isasacispresent?
Isitruptured?
Arethereassociatedanomalies(whicharefourtimesmoreprevalentin
omphalocelethangastroschisis)?
Otherassociatedanomaliesincludethefollowing:
Congenitalheartdisease
Cleftpalate
Musculoskeletalabnormalities
Dentalmalocclusion
IntestinalAtresia
Patentomphalomesentericductremnant,creatinganumbilicalcordstoma
Herniasoftheumbilicalcord
Inherniasoftheumbilicalcord,theumbilicalringisoversized,buttherelationof
theamniontotheyolksacandconnectingstalkisnormal.Seetheimagebelow.

Babywithanumbilicalcordhernia.

Urachalremnantsandomphalomesentericductmalformations
Urachalremnants[3]andomphalomesentericductmalformations[4]resultfrom
deficientapoptoticcelldeathoftheepitheliumoftheurachusandyolkstalk.See
theimagesbelow.

Omphalomesentericductremnantpresentingasan"umbilicalgranuloma."

Operativefinding:patentomphalomesentericduct,whichisbeingexcised.

Bladderexstrophy
Thebladderdevelopsbetweenthefifthandninthgestationalweeks
(postfertilization). [5]By10weeks,urineisproducedandmixeswiththeamniotic
fluidthisisiscrucialfornormallungdevelopment.Inhealthybabies,thebladderis
visibleonultrasonographytowardtheendofthefirsttrimester.
Inpatientswithbladderexstrophy,thebladderimageisaprotruding,semisolid
massinferiortoanumbilicalcordthatisdisplacedcaudally.Thepelvisisshallow
andflatthelackofspacedisplacesthedevelopingbladder,urethra,vagina,and
rectumanteriorly.Herniationoftheseorgansinterfereswiththenormal
developmentofthelowerabdominalwall.Seetheimagesbelow.

Babywithbladderexstrophyandepispadiasnotetheappearanceofthebladdermucosa,
indicatingchronicinflammation.

Anotherviewdemonstratingtheepispadiasshowninthepreviousimage.

Prunebellysyndrome
Prunebellysyndromeinvolveshydroureteronephrosis,megacystis,and
undescendedtestesinadditiontomultipleotherorgansystemdefects.This
syndromeiscausedbyincreased"apoptotic"celldeathinthebodywallplacodeor
insufficientdepositionofmesodermalcellswithabnormalretentionoftheyolksac.
[5]

Notethefollowing:
Thereisattenuationoftheabdominalmusculature.
Musclefibersareabsentandarereplacedbythickcollagenousaponeuroses.
Hypoplasiaoftheabdominalwallcontrastswithhypertrophyofthebladder
wall,causingbladderneckobstructionanddilationoftheuretersandrenal
collectingsystem.
Faultyintercellularconductionofelectricalimpulsescausesdisordered
muscularcontractionandineffectiveuretericperistalsis.
Approximately95%ofbabieswithprunebellysyndromearemalethe
absenceofprostaticandseminalfluidprecludesnormalspermdevelopment
andcausesinfertility.
Cloacalexstrophy
Theurorectalseptumdividesthecloacaeintotheurogenitalsinusandtherectum.
Defectiveenfoldingoftheembryo'scaudalpoleanddeficientincorporationofthe
yolksacandallantoisintotheurogenitalsinusleadstomalformationoftheexternal
genitalia.
Withoutingrowthofthemesoderm,thecloacapersistsdifferentiationofthe
genitourinarysystemandhindgutarearrestedanddevelopmentofthelower
abdominalwallobstructed.Theresultiscloacalexstrophy.
Thisanomalyisassociatedwithmutationsinthehomeoboxgenes.
Seetheimagesbelow.

Babywithcloacalexstrophy.

Notethebifidgenitaliainthisbabywithcloacalexstrophy.

Epidemiology
Frequency
International
Thecombinedincidenceofomphaloceleandgastroschisisis1caseper3,500
births.Epidemiologicdatacompiledoverthelast40yearsshowthattheincidence
ofomphalocelehasremainedconstant,whereasthatofgastroschisisisincreasing.
Overthepast2decades,theincidenceofgastroschisishasincreasedthreetofour
fold,whereastheincidenceofomphalocelehasremainedconstant.Seethetable
below.
Table1.Incidenceratesforgastroschisisand/oromphalocelesinvariousregions
andtimeperiods. [1,6,7,8](OpenTableinanewwindow)
Country

TimePeriod/Incidence TimePeriod/Incidence

Japan

19751980

19961997

Gastroschisis

1/77,000

1/20,000

Omphalocele

1/30,000

1/27,000

EnglandandWales 1987

1991

Gastroschisis

1/10,000

2/10,000

Omphalocele

1/10,000

1/12,500

Galveston,Texas

1983

2002

Gastroschisis

1/4000

1/900

EnglandandWales 1995

2005

Gastroschisis

1/2500

1/7500

Mortality/Morbidity
Themortalityofomphalocelesrelativetogastroschisisis8:1.Irreversiblepulmonary
hypertension/rightheartfailureistheusualterminalcondition.
Factorsadverselyinfluencingthemanagementofbabieswithgastroschisisareas
follows:
Prematurityandlowbirthweight
Hypothermia(exposureoftheintestinetotheambientenvironment)
Dehydration(gastrointestinallosses,inadditiontotheabovefactors)
Sepsis(openwound)
Hypoglycemia(stresswithlittlemetabolicreserve)
Inuterogrowthrestriction(proteinlossfromtheextrudedintestines)
Oligohydramnios
Fetaldistressandbirthasphyxia
Injurytotheintestinesduringdelivery(tearingorcuttingthebowelor
mesentery)

Improvementsinrespiratorycare,pharmacology(antibioticsandtotalparenteral
nutrition),anesthesia,andsurgeryhaveincreasedthesurvivalratesforthesebabies
from60%duringthe1960stomorethan90%inmorerecentyears. [6,7,9]
Seetheimagesbelow.

Babywithgastroschisisandassociatedintestinalatresia.

Babywithgastroschisisandcolonatresia.Bulbousproximalendoftheatreticcolonisexcised,
andacolostomyiscreatedattheabdominalwalldefect.Ananastomosisoftheproximal,
dilatedcolontothedistalmicrocolon(inviewofitssmallcaliber)wouldnotfunctionproperly.
Thecolostomycanbeclosed46weekslater.

Longtermmorbidityfromgastroschisisisrelatedtointestinaldysmotility(pseudo
intestinalobstruction),malabsorption(mucosalinjury),shortgut,and
gastroesophagealrefluxdisease.Difficultiesinobtainingwoundclosureusuallyare
reflectedinintestinalmorbidity.Poorhealingoftheabdominalwoundcausesan
incisionalhernia,whichmayrequiresurgicalrepair. [10,11,12,13]
Thefollowingscenariosmayeventuateinshortgutsyndrome,withwhichthebaby
hasinadequateintestinallength:
Anantenatalmesentericvascularaccidentmaycauseintestinalatresia.
Constrictionofthemesenteryoftheextrudedintestinebyasmallabdominal
walldefectmaycausegutinfarction("closinggastroschisis").
Anexcessivelytightclosureoftheabdominalwalldefectmayimpede
splanchnicbloodflowandresultinintestinalischemiaornecrosis.
Closedloopobstructions,inwhichbothefferentandafferentlimbsoftheintestine
areblocked,occurinvolvulus(rotation)oftheentiremidgutarounditsmesentery
(thesuperiormesentericarteryandvein)orwhenasingleloopofintestineflipson
itsmesentryoraroundanexternalpointoffixation,suchasanadhesiontothe
abdominalwall.Thiscausestensedistentionandischemicinjuryoftheintestines
(ie,"strangulationobstruction"). [14]
Theinjuryproducedbyantenatalexposureoftheintestinetoamnioticfluid
(mucosalandmuscular)leadstodiminishedabsorptiveandpropulsivecapacityof
thegutandcompoundsthecripplingeffectofdiminishedlength.
Thecareofbabieswithshortgutsyndromehasimprovedwithinnovationsin
parenteralandenteralnutrition,venousaccessdevices,preventionandearly
treatmentofcathetersepsis,innovativesurgicalprocedurestooptimizegutlength,
andaggressivetreatmentofbacterialovergrowthinstagnantloopsofintestine.
Babieswithshortgutsyndromefromgastroschisisaccountforasubstantialnumber
ofchildrenundergoingintestinaltransplantation. [15,16]
Seetheimagesbelow.

Gastroschisiscomplicatedbyjejunalatresiaandlossoftheentiredistalsmallbowel=thegrey
tissue.

Followinglysisofadhesions,tubularizationoftheviable,mesentericportionoftheproximal
jejunum,theevisceratedvisceraarereducedandthegastroschisisabdominalwalldefect
closed.

Babywithasmallomphalocelesacwhosecontentswereliverandgallbladder.

Theomphalocelesaccontainsliverandgallbladder.

Completedrepairsimulatinganumbilicus.

Babieswithgiantomphalocelesusuallyhavesmall,bellshapedthoraciccavities
andminimalpulmonaryreserve.Repairoftheomphalocelemayprecipitate
respiratoryfailure,whichmaybechronicandrequireatracheotomyandlongterm
ventilatorsupport.Theauthorrecentlytreated(unsuccessfully)ababywithagiant
omphaloceleandadiaphragmatichernia.Bothconditionsareassociatedwith
pulmonaryhypoplasia,and,occurringtogether,theywereofsuchseverityasto
precludesurvival,despiteextracorporealmembraneoxygenation(ECMO)support.
Evenwithsuccessfulrepairofagiantomphalocele,theliverremainslocatedinthe
midepigastrium,whereitlacksthenormalprotectionaffordedbythelowerribcage
andwhereitismorevulnerabletoinjury.Seetheimagebelow.

Babywithagiantomphalocele,inwhichtheliverassumesanectopicpositioninthe
epigastrium.

AstudybyCoreyetalindicatedthatcomparedwithinfantswithgastroschisis,
thosewithomphalocelehaveahigherincidenceofotheranomalies,aremorelikely

tohavepulmonaryhypertension,andhaveahighermortalityrate.Inthestudy,
whichinvolved4687infantswithgastroschisisand1448withomphalocele,the
investigatorsfoundthat35%ofthepatientswithomphalocelehadatleastone
otheranomaly,comparedwith8%ofthosewithgastroschisis.Theoddsratiosfor
pulmonaryhypertensionandmortalityininfantswithomphalocelecomparedwith
thosewithgastroschisiswere7.78and6.81,respectively. [17]

Race
Neithergastroschisisnoromphalocelehasageographicorracialpredilection.The
TexasdataindicatethatgastroschisisoccursmostcommonlyinLatinos,nextin
whites,andleastfrequentlyinAfricanAmericans.

Sex
Themaletofemaleratiois1.5:1.
ClinicalPresentation

ContributorInformationandDisclosures
Author
JamesGGlasser,MD,MA,FACSAssociateProfessorofSurgeryandPediatrics,UniversityofSouthAlabama
CollegeofMedicineAttendingStaff,USAChildren'sandWomen'sHospital
JamesGGlasser,MD,MA,FACSisamemberofthefollowingmedicalsocieties:ChristianMedicalandDental
Associations,AmericanPediatricSurgicalAssociation
Disclosure:Nothingtodisclose.
SpecialtyEditorBoard
MaryLWindle,PharmDAdjunctAssociateProfessor,UniversityofNebraskaMedicalCenterCollegeof
PharmacyEditorinChief,MedscapeDrugReference
Disclosure:Nothingtodisclose.
BrianSCarter,MD,FAAPProfessorofPediatrics,UniversityofMissouriKansasCitySchoolofMedicine
AttendingPhysician,DivisionofNeonatology,Children'sMercyHospitalandClinicsFaculty,Children'sMercy
BioethicsCenter
BrianSCarter,MD,FAAPisamemberofthefollowingmedicalsocieties:AlphaOmegaAlpha,American
AcademyofHospiceandPalliativeMedicine,AmericanAcademyofPediatrics,AmericanPediatricSociety,
AmericanSocietyforBioethicsandHumanities,AmericanSocietyofLaw,Medicine&Ethics,Societyfor
PediatricResearch,NationalHospiceandPalliativeCareOrganization
Disclosure:Nothingtodisclose.
ChiefEditor
TedRosenkrantz,MDProfessor,DepartmentsofPediatricsandObstetrics/Gynecology,DivisionofNeonatal
PerinatalMedicine,UniversityofConnecticutSchoolofMedicine
TedRosenkrantz,MDisamemberofthefollowingmedicalsocieties:AmericanAcademyofPediatrics,
AmericanPediatricSociety,EasternSocietyforPediatricResearch,AmericanMedicalAssociation,Connecticut
StateMedicalSociety,SocietyforPediatricResearch
Disclosure:Nothingtodisclose.
AdditionalContributors
DavidNSheftel,MD,MDAssistantProfessorofPediatrics,ChicagoMedicalSchoolatRosalindFranklin
UniversityofMedicineandScience
DavidNSheftel,MD,MDisamemberofthefollowingmedicalsocieties:AmericanAcademyforCerebralPalsy
andDevelopmentalMedicine,AmericanAcademyofPediatrics
Disclosure:Nothingtodisclose.

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