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Pediatric Omphalocele and Gastroschisis Differential Diagnoses Author: James G Glasser, MD, MA, FACS; Chief Editor: Ted Rosenkrantz, MD more... Updated: Apr 28, 2015 Diagnostic Considerations Note that ventral bodywall defects are immediately obvious. However, although the diagnosis is simple, treatment of these defects is complex. Omphalomesenteric duct remnants, occasionally associated with intestinal atresia, occur in babies with umbilical cord hernias, in which the abdominal wall defect is less than 4 cm. The association of chromosomal abnormalities with omphalocele is 1050%. This includes trisomy 12, 13, 15, 18, and 21 and BeckwithWiedemann syndrome. Genetic abnormalities rarely occur in babies with gastroschisis, but the clinical course of these infants is frequently complicated by malabsorption and intestinal dysmotility, gastroesophageal reflux disease, and occasionally Hirschsprung disease. Special concerns With the increased availability of ultrasonography, prenatal diagnosis is made more frequently. When an omphalocele is diagnosed, further workup is indicated to determine whether an associated genetic abnormality is present. When gastroschisis is diagnosed, serial ultrasonography should be performed to detect signs of intestinal injury, including decreased peristalsis or bowel distension. Parents should be educated about the baby's anomaly before delivery. Optimal management requires that the obstetrician anticipates the needs of the baby and ensures that delivery occurs in a facility where neonatology, pediatric anesthesia, and pediatric surgery consultation is available. Contributor Information and Disclosures Author James G Glasser, MD, MA, FACS Associate Professor of Surgery and Pediatrics, University of South Alabama College of Medicine; Attending Staff, USA Children's and Women's Hospital James G Glasser, MD, MA, FACS is a member of the following medical societies: American Pediatric Surgical Association and Christian Medical & Dental Society Disclosure: Nothing to disclose. Specialty Editor Board David N Sheftel MD, Assistant Professor of Pediatrics, Chicago Medical School at Rosalind Franklin University of Medicine and Science David N Sheftel is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine and American Academy of Pediatrics Disclosure: Nothing to disclose. Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; EditorinChief, Medscape Drug Reference Disclosure: Nothing to disclose. Brian S Carter, MD, FAAP Professor of Pediatrics, University of MissouriKansas City School of Medicine; Attending Physician, Division of Neonatology, Children's Mercy Hospital and Clinics; Faculty, Children's Mercy Bioethics Center Brian S Carter, MD, FAAP is a member of the following medical societies: Alpha Omega Alpha, American Academy of Hospice and Palliative Medicine, American Academy of Pediatrics, American Pediatric Society, American Society for Bioethics and Humanities, American Society of Law, Medicine & Ethics, National Hospice and Palliative Care Organization, and Society for Pediatric Research Disclosure: Nothing to disclose. Carol L Wagner, MD Professor of Pediatrics, Medical University of South Carolina Carol L Wagner, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American Medical Women's Association, American Public Health Association, American Society for Bone and Mineral Research, American Society for Clinical Nutrition, Massachusetts Medical Society, National Perinatal Association, and Society for Pediatric Research Disclosure: Nothing to disclose.

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  • 13/5/2015 PediatricOmphaloceleandGastroschisisDifferentialDiagnoses

    http://emedicine.medscape.com/article/975583differential 1/3

    PediatricOmphaloceleandGastroschisisDifferentialDiagnoses

    Author:JamesGGlasser,MD,MA,FACSChiefEditor:TedRosenkrantz,MDmore...

    Updated:Apr28,2015

    DiagnosticConsiderationsNotethatventralbodywalldefectsareimmediatelyobvious.However,althoughthediagnosisissimple,treatmentofthesedefectsiscomplex.

    Omphalomesentericductremnants,occasionallyassociatedwithintestinalatresia,occurinbabieswithumbilicalcordhernias,inwhichtheabdominalwalldefectislessthan4cm.

    Theassociationofchromosomalabnormalitieswithomphaloceleis1050%.Thisincludestrisomy12,13,15,18,and21andBeckwithWiedemannsyndrome.

    Geneticabnormalitiesrarelyoccurinbabieswithgastroschisis,buttheclinicalcourseoftheseinfantsisfrequentlycomplicatedbymalabsorptionandintestinaldysmotility,gastroesophagealrefluxdisease,andoccasionallyHirschsprungdisease.

    Specialconcerns

    Withtheincreasedavailabilityofultrasonography,prenataldiagnosisismademorefrequently.

    Whenanomphaloceleisdiagnosed,furtherworkupisindicatedtodeterminewhetheranassociatedgeneticabnormalityispresent.

    Whengastroschisisisdiagnosed,serialultrasonographyshouldbeperformedtodetectsignsofintestinalinjury,includingdecreasedperistalsisorboweldistension.

    Parentsshouldbeeducatedaboutthebaby'sanomalybeforedelivery.Optimalmanagementrequiresthattheobstetriciananticipatestheneedsofthebabyandensuresthatdeliveryoccursinafacilitywhereneonatology,pediatricanesthesia,andpediatricsurgeryconsultationisavailable.

    ContributorInformationandDisclosuresAuthorJamesGGlasser,MD,MA,FACSAssociateProfessorofSurgeryandPediatrics,UniversityofSouthAlabamaCollegeofMedicineAttendingStaff,USAChildren'sandWomen'sHospital

    JamesGGlasser,MD,MA,FACSisamemberofthefollowingmedicalsocieties:AmericanPediatricSurgicalAssociationandChristianMedical&DentalSociety

    Disclosure:Nothingtodisclose.

    SpecialtyEditorBoardDavidNSheftelMD,AssistantProfessorofPediatrics,ChicagoMedicalSchoolatRosalindFranklinUniversityofMedicineandScience

    DavidNSheftelisamemberofthefollowingmedicalsocieties:AmericanAcademyforCerebralPalsyandDevelopmentalMedicineandAmericanAcademyofPediatrics

    Disclosure:Nothingtodisclose.

    MaryLWindle,PharmDAdjunctAssociateProfessor,UniversityofNebraskaMedicalCenterCollegeofPharmacyEditorinChief,MedscapeDrugReference

    Disclosure:Nothingtodisclose.

    BrianSCarter,MD,FAAPProfessorofPediatrics,UniversityofMissouriKansasCitySchoolofMedicineAttendingPhysician,DivisionofNeonatology,Children'sMercyHospitalandClinicsFaculty,Children'sMercyBioethicsCenter

    BrianSCarter,MD,FAAPisamemberofthefollowingmedicalsocieties:AlphaOmegaAlpha,AmericanAcademyofHospiceandPalliativeMedicine,AmericanAcademyofPediatrics,AmericanPediatricSociety,AmericanSocietyforBioethicsandHumanities,AmericanSocietyofLaw,Medicine&Ethics,NationalHospiceandPalliativeCareOrganization,andSocietyforPediatricResearch

    Disclosure:Nothingtodisclose.

    CarolLWagner,MDProfessorofPediatrics,MedicalUniversityofSouthCarolina

    CarolLWagner,MDisamemberofthefollowingmedicalsocieties:AmericanAcademyofPediatrics,AmericanChemicalSociety,AmericanMedicalWomen'sAssociation,AmericanPublicHealthAssociation,AmericanSocietyforBoneandMineralResearch,AmericanSocietyforClinicalNutrition,MassachusettsMedicalSociety,NationalPerinatalAssociation,andSocietyforPediatricResearch

    Disclosure:Nothingtodisclose.

  • 13/5/2015 PediatricOmphaloceleandGastroschisisDifferentialDiagnoses

    http://emedicine.medscape.com/article/975583differential 2/3

    ChiefEditorTedRosenkrantz,MDProfessor,DepartmentsofPediatricsandObstetrics/Gynecology,DivisionofNeonatalPerinatalMedicine,UniversityofConnecticutSchoolofMedicine

    TedRosenkrantz,MDisamemberofthefollowingmedicalsocieties:AmericanAcademyofPediatrics,AmericanMedicalAssociation,AmericanPediatricSociety,ConnecticutStateMedicalSociety,EasternSocietyforPediatricResearch,andSocietyforPediatricResearch

    Disclosure:Nothingtodisclose.

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