CONGENITAL FETAL ANOMALIES - Amr Nadim：胎儿先天性异常- AMR纳迪姆课件

CONGENITALFETALANOMALIES

1CONGENITALFETALANOMALIES1TerminologyCongenitalmeansexistsincebirth,whetherclinicalevidencesareobviousornotobvious.Anomalymeansadeviationfromthenormal.Malformationmeansfaultydevelopmentofastructure2TerminologyCongenitalmeansexTypesofcongenitalanomalies:Physicalstructuraldefects:Singlestructureisaffected.Multiplestructuresareaffected.Non-structuraldefectsInheritedmetabolicdefectsFunctionalandbehavioraldeficitse.g.congenitalmentalretardation.Incidence:Majorcongenitalanomalies:affectsabout2to5%ofallnewborns.Minoranomaliesoccurinhigherpercentageofnewborn(about10%).Theriskofrecurrenceofcongenitalmalformationswiththesamepatientisveryimportantingeneticcounseling.Mostofcongenitalanomaliesaresingleprimarydevelopmentalanomalygeneralempiricalaveragefigureof2to5%,totheapparentlyknownhealthyparentswithoneaffectedchild.Moreaccuratefigurescouldbecalculatedonlywhentheetiologyisduetoadefectinasinglegeneandaccordingtothelawsofinheritancee.g.hemophilia3Typesofcongenitalanomalies:EtiologyofCongenitalAnomalies

Unknowncause(60%):

Thecausesofmalformationsarenotidentifiableinthemajorityofcases.

Multifactorialfactors(20%):Multifactorialetiologydenotesthepresenceofaninteractionbetweengeneticpredispositionandnon-geneticintrauterinefactors.Commonexamplesincludeneuraltubedefects,certainformsofhydrocephaly,facialclefts,cardiacanomalies,andimperforateanus.

4EtiologyofCongenitalAnomaliGeneticbasis:

ThousandsofknowngeneticdiseasesthatmayaffecthumansasallinheriteddisordersArepassedfromonegenerationtoanother.

Geneticdiseases

maybesecondarytoeitherofthefollowing:Secondarytoasinglemutantgenes(7.5%):‘Mendeliansinglegenedisorders’thatcarriesariskofcausingcongenitalmalformations.Autosomaldominantandrecessivedisorders:About3000disordersareinheritedinhumansduetosinglegenedisorder.e.gHemoglobinopathies.sicklecelldisease,thalassemia&Renaldisorders:polycystickidneydisease.Sexchromosomaltraits(X-linkeddiseases):Thereisnomaletomaletransmissione.g.hemophilia,musculardystrophy.5Geneticbasis:5Secondarytochromosomalanomalies(6%).

Abnormalityofchromosomenumber(numericalabnormalities):Triplicatenumberofportionoranentirechromosome:clinically -Autosomalabnormalities:e.g.Trisomiese.g.trisomy21,18and13.Trisomy13and18arefatal. -Sexchromosomeanomalies:ThemostcommonareTurner’ssyndrome(45,X),Kleinfelter’ssyndrome(47,XXY).Monosomies:Singlenumberofchromosome:monosomyX.e.g.X-linkedmentalretardation(fragileXsyndrome).Abnormalityofchromosomestructure:Deletions,translocations,inversions.6SecondarytochromosomalanomaExogenousinfluences

Teratogenexposures

:Teratogenesismostlyoccursbeforethetenthweekofintrauterinelife(theperiodofembryogenesis).

Intrinsicinsults:Maternalinfections:rubellavirus,cytomegalovirus,toxoplasmosagondi,humanparovirusB19infection,andsyphilis.Noninfectioussystemice.g.diabetesmellitus,phenylketonuria,andseizuredisorders.Functionalvirilizinglesionsoftheovaryandadrenalglands.Extrinsicinsults:

Environmentalagents:organicsolvents,pesticides,anestheticgasesandheavymetalslikelead,lithium,andorganicmercury.Drugexposureandmedications:Examplesofknownhumanteratogenicmedications:Hormonalagents:Progesterone,androgenichormonescausingmasculinizationofthefemalefetusandthyroidandantithyroiddrugs.Thalidomidecausingphocomeliaandotherlimbcongenitalmalformations.Physicalinjury:Exposuretohighdosesofionizingradiationproducesgenemutation,chromosomalaberrationsandabnormalities.7Exogenousinfluences

TeratogeTheFoodandDrugAdministration“FDA”listsfivecategoriesoftablingfordruguseinpregnancy

Controlledstudiesinwomenfailedtodemonstratearisktothefetusinthefirsttrimester,andthepossibilityoffetalharmappearsremote.Animalstudiesdonotindicatearisktothefetus,therearenocontrolledhumanstudies,oranimalstudiesdoshowanadverseeffectonthefetus,butwell–controlledstudiesinpregnantwomenhavefailedtodemonstratearisktothefetus.Studieshaveshownthedrugtohaveanimalteratogenecityorembryocidalaffects,butnocontrolledstudiesareavailableineitheranimalsorwomen.Positiveevidenceofhumanfetalriskexists,butbenefitsincertainsituations(e.g.,seriousdiseasesforwhichsaferdrugsareineffective)maymakeuseofthedrugacceptabledespiteitsrisks.Studiesinanimalsorhumanshavedemonstratedfetalanomaliesandtheriskclearlyoutweighsanypossiblebenefit.8TheFoodandDrugAdministrati99PreventionOfHavingAnOffspring

WithCongenitalAnomaliesPre-PregnancyassessmentAntenatalDiagnosisPostnatalAssessmentGeneralGuidelines10PreventionOfHavingAnOffsprI.Generalguidelines:Controlofmedicationsduringpregnancy:Minimizedrugexposure.Detectionandcontrolofrelevantmaternaldiseases.Geneticcounseling.Prenataldiagnosisofgeneticconditionsandselectiveterminationoftheaffectedpregnancyorin-uterotreatmentifpossible.Discourageconsanguineousmarriageswhenappropriatee.g.closedfamily,previousinheritablemalformationinthefamily.11I.Generalguidelines:11Pre-PregnancyAssessmentGeneticcounseling:Apre-pregnancyinformationgiventocoupleswithfamilyhistoryofcongenitalandinheriteddisorders,helpingthemtomakeadecisionregardingfuturechildbearing.Thecorrectadviceprovidesaccurateinformationconcerningtherecurrencerisks.Generalscreeningprograms:Theaimistoidentifysomeofthecommongeneticdisordersinacommunity.Adultscreeningprogramsinselectedhigh-riskgroups:Commonexamplesofautosomalrecessivedisorders:sicklecellanemia,thalassemiamajor.Gravidasover35years:Cytogenicstudiesonfetalcellsobtainedbyamniocentesisorchorionicvillussampling.Neonatalscreeningprograms:Someofthedisordersthatareinneedsforimmediateidentificationafterdeliveryandtobescreenedsoonafterdeliveryarephenylketonuria,congenitalhypothyroidism,sicklecelldiseaseandgalactosemia.12Pre-PregnancyAssessmentGenetiPre-natalDiagnosticProceduresHistoryTakingAbnormalfindingsduringroutineexaminationAbnormalfindingsduringroutineinvestigationsSpecificAntenataldiagnosticprocedures13Pre-natalDiagnosticProcedureHistoryTakingleadingquestionsofspecialsignificance:Maternalage.Personalorfamilyhistoryofcongenitalanomaliese.g.familialdisordersinthebloodrelatives.Theethnicorigin.Significantmaternaldiseases:diabetesmellitus,infections,andacutematernalillness.

14HistoryTakingleadingquestionSuspiciousFindingsOnClinicalExaminationAhigherincidenceofcongenitalanomaliesaredetectedinassociationwith:Oligohydramnious:renaldysplasia,renalagenesis,bladderoutletobstructionandintrauterinegrowthretardation.Polyhydramnios:Centralnervoussystemanomalies:anencephaly,hydrocephaly.Gastrointestinalmalformations:Tracheoesophagealfistula,duodenalatresia.Threatenedabortion.UnexplainedIUGR.15SuspiciousFindingsOnClinicaSuspiciousFindingsOnRoutineInvestigationsSuspiciousfindingsonultrasoundscreening:EarlyIUGRIUGROligohydramniosHydramniosRestrictedfetalmovements16SuspiciousFindingsOnRoutineAbnormalmaternalserumalpha-fetoprotein(MSAFP)

MSAFPiselevated(2.5MOM)

Fetalanomaliessuchasneuraltubedefects,abdominalwalldefectse.g.omphalocele,esophagealorintestinalobstruction,cystichygroma,urinaryobstruction,renalanomalies:polycystickidneys,osteogenesisimperfecta,Turner’ssyndrome,andRhdisease.Obstetricalcomplicationssuchaslowbirthweight,oligohydramnios,multifetalgestation.MSAFPisabnormallylow(<0.2MOM)Chromosomaltrisomiesofthefetus.ThevaluesarelowinonlyonethirdofDown’ssyndrome,Gestationaltrophoblasticdisease,andfetaldeath.Thetripletest:SpecifiedcombinationsofmaternalserumassayofAFP,unconjugatedoestriol(uE3)andhCG.Specialtablesareusedtointerprettheresults.17Abnormalmaternalserumalpha-1818SpecificPrenatalTechniquesNon-invasivetechniques:Malformationultrasoundscan2DVs3Dand4DscansMRI.Invasivetechniques:AmniocentesisChorionicvilloussampling(CVS),Cordocentesis,FetoscopyTappingoffluidfilledfetalstructuree.g.collectionoffetalurineforassessmentoftherenalfunction.19SpecificPrenatalTechniquesNoAnomalyScansStructuralAssessment:Systematicdocumentationoftheessentialfetalanatomy:head,neck,chest,abdomen,limbs,externalgenitalia,Assessmentofamnioticfluidvolume.Theumbilicalcordanditsvessels.Measurementsarecalculated(Biometry):ThemostsignificantmeasurementsareBPD(biparietaldiameter),OFD(occipto-frontaldiameter),HC(headcircumference),andfemurlength.Serialmeasurementsareusedtoevaluatethegrowthpatternoforgans.20AnomalyScansStructuralAssess21212222AmniocentesisItisthemostfrequentlyandtheestablishedinvasiveproceduretobeperformed.Thesamplescontain:Fetalsomaticcellsthatcanidentifythecytogeneticconstitutionofthefetus.Fluidthatcanbeusedtoassessvarietyofbiochemicalprocesses.IndicationsofamniocentesisChromosomalabnormality,openneuraltubedefect,inbornerrorofmetabolism.23AmniocentesisItisthemostfr12weeks14weeks16weeks40ml100ml185ml2412weeks14weeks16weeks40ml125252626FetalLoss 0.5%FailedAmino. 1.0%CultureFailure 0.5%Problems

27FetalLoss 0.5%Problems27ChorionicVillousSampling(CVS)Theaimistoobtainchorioniccells(fetalinorigin)forlaboratorystudy.Advantagesof(CVS)overamniocentesis:Fetalcellscouldbeobtainedatanearliergestationalage.Lengthycultureproceduresareunnecessary,aschorioncellsdivideveryrapidly.Adecisionfortermination,ifnecessary,couldbetakenatanearlierstageofpregnancywithgreatersafetyandlesslegalandreligiousconcerns.28ChorionicVillousSampling(CV2929NeedleChorionicTissue30NeedleChorionicTissue30CVS-ComplicationsFetalloss~1%UnsuccessfulCVS1–5%(Dependsonoperatorexperienceandaccessibilityofplacenta)Ambiguousresults/maternalcellcontamination~1-2%Culturefailure1-2%31CVS-ComplicationsFetallossFactorsAffectingRateof

FetalLossFollowingCVSExperienceofoperatorNumberofattemptsTimeofsamplingManipulationrequiredRouteofCVSWhoReport199132FactorsAffectingRateof

FetaPercutaneous

UmbilicalCordBloodSampling‘Cordocentesis’Theaimistoobtainfetalblood,usingultrasounddirectedneedlingoftheumbilicalcord.Theneedleisdirectedtoenteranumbilicalvesselatthecordroot.Possibleindicationsofcordocentesis:Diagnostic:Fetalkaryotype.Otherbloodtests:Coagulationfactors,hemoglobincomposition,bloodcellsandplatelets,Respiratorygases.Caseswithisoimmunization:FetalbloodtypeandRhstatus,coombsantibodytesting,completebloodcellcountTherapeutic:Transfusionofcompatibledonorblood.FetalLossin~1%ofthecases.33Percutaneous

UmbilicalCordBlLaboratoryInvestigativeProceduresChromosomeanalysis:simplecytogenictechniquesspecialcultureandexaminationforminorchromosomeaberrationsBiochemicalanalysis:Bilirubininrhesusisoimmunization:normallyitisexcretedinfetalurine.Microvillarenzymesfromthefetalgutforcysticfibrosis.Alpha-fetoprotein:nearlyallofAFPisfetalinorigin.34LaboratoryInvestigativeProceLaboratoryInvestigativeProceduresDNAanalysis:Polymerasechainreaction(PCR)Chorionicvilli.Amnioticfluidorfetalblood.Moleculargeneticsisthestudyofthestructureofthegenes.Itsvalueintheobstetricpracticeisrelatedtothestudyofinheriteddisease.FetalGenderDeterminationriskofaseriousX-linkedhereditarydisorders,forwhichnospecificprenataldiagnostictestisreadilyavailable.TheaimisterminationofpregnancyifthefetusisoftheexposedtypeoftheX-linkeddisorder.FetalinfectionTestingeithertheamnioticfluidorthechorionicvilliorfetalblood.Testingforpossiblefetalviralinfectionisindicatedincasesofmaternalvirusinfection.Hematologicalanalysis:haemoglobinopathies,coagulationdisorders,andfetalbloodgrouping35LaboratoryInvestigativeProceWhattoDowhenaCFAisDiscovered?Terminationofpregnancy:Culturalbackgroundandreligiousbeliefsplayaroleinthedecision,Indicatedwithmalformationsincompatiblewithlifetoe.g.anencephaly,andmultiplemalformationswithpoorprognosis.Counseling36WhattoDowhenaCFAisDiscoWhattoDowhenaCFAisDiscovered?Prenataltherapyorsurgery,availableforfewconditionsonly:Medicaltreatment:Intrauterineheartfailureandsupraventriculararrhythmia’s:maternalmedicationofdigoxinandpropranolol.Congenitaladrenalhyperplasia:dexamethasonetothemothertoreducesaccumulationofandrogenicsteroidsandtolessensvirilizationoffemalefetus.Surgicaltreatment:Isoimmuneanemias:(e.g.duetoRhesusdisease)Inuterotreatmentbyintravascularorintraperitonealtransfusion.Obstructivehydrocephalus:attemptsatintrauterineventriculo-amnioticshuntsarebeingtested.Urinarytractobstruction:implantingacatheterfromthefetalbladdertotheamnioticcavity.Genetherapy:stillexperimental.Counseling37WhattoDowhenaCFAisDiscoWhattoDowhenaCFAisDiscovered?Planningthebestcircumstancesfordelivery.Congenitalanomaliesrequiringurgentsurgicalproceduresandspecialcareafterdelivery:Gastrointestinaltractobstruction:pyloricstenosis,esophagealatresia,intestinalatresia,duodenalatresia,jejuno-ilealatresia,colonicatresia,ano-rectalmalformations.Urinarytractobstruction.Congenitaldiaphragmatichernia.Exomphalosandextrophy(bladdercloaca).Openneuraltubedefects.Congenitaladrenalhyperplasia.Counseling38WhattoDowhenaCFAisDiscoPostnatalDiagnosisOfCongenitalFetalMalformationsManycasesofcongenitalmalformation,eveninthecurrentobstetricpracticearedetectedonlyafterdelivery.Routineexaminationofallnewbornsimmediatelyafterbirthandfewdayslaterisessentialcomponentintheroutinepractice.39PostnatalDiagnosisOfCongeniSomeCongenitalFetalAnomaliesAnomaliesoftheNervousSystemAnomaliesoftheGITAnomaliesoftheGenito-urinaryTractCardiovascularAnomaliesAnteriorAbdominalwalldefectsDiaphragmaticherniaDown’sSyndromeNonImmuneHydropsFetalis40SomeCongenitalFetalAnomaliePreventionofCNSAnomaliesCorrectionofdietaryhabits:Certaindietarypatternsaredeficientinfolicacid,andneedtobemodified.Peri-conceptionalfolateadministration.Peri-conceptionalcontrolofDMSpecialtestsduringpregnancyinhigh-riskindividualsforearlydetectionofsuchanomalies.41PreventionofCNSAnomaliesCorAnencephalyAnencephalyisalethalanomalyduetotheabsenceofThemembrane-ossifyingbonesofthecranialvaultandconsequentlytheskullandscalp.Thecerebralhemispheres,underlyingtheabovestructuresItismorecommoningirls.Antenataldiagnosis:Clinicalfeatures:Polyhydramniosandabdominalpalpation(absenceofhead).Investigations:Raisedplasmaandamnioticfluid

-fetoproteinlevelsandultrasoundfeatures.Managementofanencephalicpregnancy:Electiveabortion.Vaginaldelivery:thereisanincreasedincidenceoffacepresentationandshoulderdystocia42Anencephaly424343HydrocephalusHydrocephalusisanexcessofcerebrospinalfluidwithintheventricles,andthesubarachnoidspace.Congenitalcerebralmalformations:e.g.Arnold-Chiarimalformation.Congenitalfetalinfectionse.g.toxoplasmosis,cytomegalovirus.Intrauterineintracranialhemorrhage.Certainformsaremultifactorialorigin.ObstructionoftheaqueductofSylviuswhichmaybeduetogeneticdisordersastrisomy21,infectionastoxoplasmosisandcytomegalovirus,intracranialtumors,andintracerebralhemorrhage.Chromosomalabnormalities:triploidy,trisomy18,andX-linkedtrait.

44HydrocephalusHydrocephalusisAntenataldiagnosisofhydrocephalus:Clinical:Polyhydramnios.Largesizehead.BreechpresentationiscommonDuringlabor,vaginalexamination:Widesutures,largefontanellesandthin,softidentablecranialbones.Ultrasound:Diagnosticvalue:serialultrasoundstudiesareimportanttoavoidfalsepositivediagnosis.Prognosticvalue:thetypeofhydrocephalusthesiteandextentofthebraininjuryThecerebralcortexcompressionisfollowedregularly.

Congenitalhydrocephalusiscommonlyassociatedwithotherneurologicalorgeneralcongenitalmalformationse.g.spinabifida,harelip,clubfoot,orimperforateanus.45AntenataldiagnosisofhydroceManagementOptionsTerminationofpregnancycouldbeoffered,ifdiagnosisisdefiniteintheearlysecondtrimester.Searchforassociatedanomalies.Establishmentoftheetiologyifpossible.Amniocentesistodeterminefetalkaryotype.Intrauterinetherapy(underultrasoundguide):Attemptsatintrauterineventriculo-amnioticshunts(withaonewayvalvemaybedonetodrainCSFfromcerebralventriclesintotheamnioticsactopreventcompressionandatrophyofbraintissues)arebeingtested.46ManagementOptionsTerminationManagementOptionsEffectsofhydrocephalyonvaginaldelivery:Breechpresentationiscommon.Feto-pelvicdisproportion:Non-engagementofthepresentinglargeheadandobstructedlabor.Someinfantscannotbedeliveredwithoutdestructiveprocedureorcesareansection.Conductofdelivery:Destructiveprocedurestofacilitatevaginaldelivery.Theheadisperforatedandcerebrospinalfluidisdrawnoff.Inbreechpresentation,theaftercomingheadiseitherperforatedorspinaltappingiscarriedout.Ametalcanulaisintroducedthroughthespinalcanal(orthroughspinabifidaispresent).Deliveryofalivenewborn,withpossiblecesareansection,whentherearefavorablesigns.Absenceofassociatedanomalies.Stablehydrocephalus.Cerebralmantelremainsmorethan10mm(thicknessofcerebralcortex)andthenewbornwillhavesurgicalproceduresafterdeliveryi.e.shuntingoperations(ventriculo-peritonealshunt).47ManagementOptionsEffectsofhMicrocephalyMicrocephalyisanabnormallysmallhead.Diagnosisdependsonbiometry:Occipto-frontaldiameter(OFD)andBPDarereduced.Complicationsofmicrocephalus:Mentalretardation:thesmallertheheadtheworsetheprognosis.Thepresenceofassociatedanomalies

48MicrocephalyMicrocephalyisanSpinabifidaandMeningomyeloceleSpinabifidaisadefectinthespineresultingfromfailureofthetwohalvesofthevertebralarchtofuse.Ultrasoundfeaturesofspinabifida:Thefeaturesappearby18-20weeksgestationinabout90percentofcases.Theposteriorossificationcentersofthespine,atthelevelofthedefectarewidelyspaced.ThevertebralsegmentappearsinU-shape.Thedefectmaybevisualizedonlongitudinalscanning.Thereisrestrictedmotilityofthelowerlimbs49SpinabifidaandMeningomyeloc5050Theprognosisisrelatedtothefollowing:PresenceandseverityofneurologicalinvolvementThepresenceofassociatedabnormalities:e.g.Arnold-Chiarimalformation(coexistinghydrocephalusduetoprolapseofthecerebellarhemispheres(obstructingtheflowofCSF).Itistobenotedthat90percentofcasesofspinabifidahaveordevelopshydrocephaluslateron.Orthopedicmalformations:congenitaldislocationofhips,footdeformitye.g.talipes,andkyphoscoliosis.Chromosomaldefects:e.g.trisomy18.51TheprognosisisrelatedtothTypes:Spinabifidaocculta:Theboneonlyisaffected,whilethespinalcordandthemembranesareintact.Theremaybeapatchofhairyskinoradimpleovertheaffectedarea.Ithasagoodprognosis.Notreatmentisrequired.Spinabifidacystica‘overta’whichincludes:Meningocele.Itisprotrusionandherniationofthemeninges,throughabonydeficittotheskin.Meningomyelocele:Itisaprotrusionofheterotopicneuraltissuewiththemeninges.Thedefectisinthemidlineandaffectstheskinoftheback,muscles,bonesofthevertebralarchesandneuraltube.ThemembraneiseasilyrupturedMyelocele:Noskinormeningestocoverthelesion.Itisusuallyincompatiblewithlife.Immediatecareafterdelivery:Coverthelesionwithasterilenon-adhesivedressingtominimizetraumaandinfection.SearchforassociatedmalformationsConsultaneurosurgeon.52Types:52AnteriorAbdominalWallDefectsThedefectinclosuremayinvolvethelowerpartofabdominalwallonly,orbladder,urethraandpenis,and/orclitorisandlabia.TheseareassociatedwithincreasedMSAFP.Unfortunatelyhighpercentageofcaseshaveanassociatedcardiacandchromosomeabnormalities.53AnteriorAbdominalWallDefectTypes:Omphalocele(exomphalos):

Congenitalherniationofsomeoftheintra-abdominalcontentsthroughtheumbilicalring.

DD.Gastroschisis–HerniaoftheumbilicalcordEctopiavesicae:

thedefectinvolvesthebladder.[Exstrophyofbladder:Thetrigoneandurethralorificesareexposed]Managementofdefectsoftheanteriorabdominalwall:Immediatecare:Donotclampprotrudingmass.Clamptheumbilicalcordfewcentimetersdistaltotheswelling.Keepthehernialsacmoistandwarm,usingpadssoakedinanormalsalinesolution.Protectfromirritation,traumaticinjuryofcoveringmembraneororgansandfrominfection.Emptythestomachofairwithanasogastrictube.Surgicalcorrectiverepair.54Types:Managementofdefectsof5555GastrointestinalTractAnomaliesTheprognosisisgenerallygoodaftersurgicalcorrection[providedNOotheranomaliesco-exist]Malformationspresentingwithintestinalobstruction:Bowelobstructionabovetheileum.Allusuallyresultsinpolyhydramniosduetofailureofabsorptionofswallowedamnioticfluid.Afterdeliverythereisvomitingandabdominaldistension.Surgeryatearlyneonatallifeissuccessfulinduodenalatresia,esophagealatresia,pyloricstenosis,jejeunalandilealatresia.Bowelobstructionbelowtheileum.GeneralizeddistentionofbowelloopsonultrasoundThecausesare:Dysfunctional:thedistentionmaybetransientandresolvespontaneously.Meconiumileus.Analatresiaandimperforateanus.Hirschsprung’sdisease

56GastrointestinalTractAnomali5757CleftLipandCleftPalateSeveralteratogensmaycauseeitherofthetwoconditions.Generallybotharenotassociatedwithothergastrointestinalmalformations.CleftLip:Itiscleftintheupperlip.Itmaybeunilateralorbilateral.asmallnotchinthevermiliontoacompleteseparationextendingintotheofthenose.Theremaybefeedingproblems.Itisoftenassociatedwithfloorcleftpalate.Surgicalrepaircanbedoneinthefirstfewdaysoflife.CleftPalate:Bifiduvula.Acleftonmidlineuvula.Cleftsoftpalate.Cleftbonypalate.Gapinthealveolararch.Feedingproblemsmaydevelope.g.aspirationandinfection.Correctivesurgery:bestresultsifperformedaroundoneyearofage.Postoperativecomplications:arenotrare.Recurrentotitismedia.Speechandhearingproblems.58CleftLipandCleftPalateSeveUrogenitalSystemAbnormalitiesRenalAgenesis:Itisarareabnormality.Itisfatalwhenbilateral.Potter’ssyndrome:Renalagenesis,pulmonaryhypoplasia,oligohydramnios,IUGR,characteristiccompressedfacialfeatures,flattenednose,smallchin,prominentepicanthalfoldsandwithalow-setears.Atbirththereissevererespiratoryproblems.Ultrasonicconfirmationisdifficultbecauseitisbasedonthedocumentationoftheabsenceoftherenalechoes,insevereoligohydramnios.Alsoperirenalfatoradrenalglandsmaymimictherenalshadow.Obstructiveuropathy:Variouscausesofobstructiontourinaryflow.Ultrasounddiagnosis:Enlargedbladderand/orhydronephrosis.Theconditionmaybeunilateralorbilateral.Featuresafterdelivery:abdominalmassbecauseofenlargedbladderand/orhydronephrosis.Types:Pelviuretericjunctionobstructionisconsideredasacuteratherthanchronicobstruction.Theprognosisisfavorable.Posteriorurethralvalves:occurinmale.Theyareresponsibletovaryingdegreesofdilatationoftherenaltract.Completeurethralstenosis:completeabsenceofamnioticfluidandgrossdilatationoftherenaltract.Kidneysmaybesubjectedtoseveredysplasia,andappearssmallwithincreasedechogenicity59UrogenitalSystemAbnormalitieAnomaliesoftheexternalgenitaliaChromosomalanomalies.Adrenalcorticalhyperplasia.Maternalintakeofadrenogenicsubstances.UndescendedTesticlesPretermWhentocorrectEpispadius/HypospadiusAssociatedwithXXY,Trisomy1860AnomaliesoftheexternalgeniCardiacAnomaliesSomeareminorself-limitingoreasilycorrectabledefects,whilesomeareseriousandcanbelethal.Thecommonlesionsareventricularseptaldefects,patentductusarteriosus,atrialseptaldefect,pulmonarystenosis,fallot’stetralogy.Associatedextra-cardiaclesionsarepresentin30%ofcases.Ultrasoundexaminationofthefetalchest:Four-chamberviewoftheheart:Viewatrightanglestothelongitudinalaspectofthefetalspine.Thatviewdemonstratesarrhythmias.M-modetracingsofdifferentcardiacchambersorstructures.Dopplercolor-flowmapping.Todefinethepatternofthebloodflow.FetalEchocardiography61CardiacAnomaliesSomeareminoSingleumbilicalarteryMaybeasingleanomalyPossibleassociatedmalformationsEsophagealatresia,Imperforateanus,Trisomy18syndrome.62SingleumbilicalarteryMaybeDiaphragmaticHerniaPul