Risk-factors-for-CHD(先天性心脏病危险因素)PPT格式课件下载.pptx

Risk-factors-for-CHD(先天性心脏病危险因素)PPT格式课件下载.pptx

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RiskFactorsforCHD-IndicationsforFetalEchoRevisitedAmySvenson,MDDivisionofPediatricCardiologyArizonaPediatricCardiologyConsultantsPhoenixChildrensHospitalPhoenix,ArizonaNoneScreeningforCHDCongenitalheartdiseasecontinuestobethemostcommoncongenitalmalformation,atarateof8/1,000livebirths.Mostcardiacdefectsarescreenedforontheroutine18-20weekanatomyscanbytheOB,buttheratesofdetectionofCHDremainlowAt20weeksgestation,thefetalheartisalittlebiggerthanthesizeofaquarterScreeningforCHDCardiacanomaliesareamongthemostfrequentlymissedcongenitalmalformationsandrelyheavilyontheexpertiseofthoseperformingtheexamThosespecializedphysiciansperformingandinterpretingdetailedfetalechocardiogramscandetectnearlyallcasesofCHD,buttheyareaverylimitedresourceThus,muchresearchhasgoneintoidentifyingmarkersforCHDoutsideofthedetailedfetalechocardiogramScreeningforCHDMaternalpatientsmaybereferredforadetailedfetalechocardiogrambyaqualifiedspecialistif:

@#@thebasicscreeningultrasoundisabnormalConcernforstructuralheartdefectConcernforabnormalheartrhythmthereisarecognizedriskfactorthatraisesthelikelihoodofcongenitalheartdiseasebeyondwhatisexpectedinthelowriskpopulationWhichpatientsareconsideredtobeatincreasedriskandthusshouldbereferredforadetailedfetalechocardiogram?

@#@FetalindicationssuspectedcardiacanomalyorabnormalcardiacaxisincompletecardiacevaluationonOBscreeningultrasoundUnexplainedpolyhydramnioschromosomalabnormalitiesextracardiacabnormalitiesArrhythmias（50%offetuseswithCHBhavecomplexCHD）non-immunefetalhydrops（15-20%areofcardiacetiology）increasednuchaltranslucencyMonochorionictwinsMaternalindicationsMaternalmetabolicdisordersPre-gestationaldiabetesorearlyonsetdiabetesduringpregnancy6-10%congenitalmalformationrate,ofwhich40-50%arecardiacStructuraldefects（TGA,DORV,VSD,heterotaxysyndrome）Hypertrophiccardiomyopathy（late2ndor3rdtrimester）MaternalPKU（7foldincreaseinCHD）MaternalindicationsAutoantibodies（anti-Ro/SSAandanti-La/SSB）associatedwithSjogrensyndrome（40-95%）andSLE（15-35%）1-2%riskofcompleteheartblockRecurrenceriskof15-20%Pregnanciesconceivedwithassistedreproductivetechnology（ART）ExposuretoknownteratogensorcertainmedicationsFamilialindicationsFamilyhistoryofCHDinafirstdegreerelative2-3%recurrenceriskifasiblinghasCHD2%recurrenceriskifdadhasCHD5-10%recurrenceriskifmomhasCHDLeftheartobstructivelesionsappeartohaveahigherrecurrenceriskFamilialIndicationsInheritablegeneticsyndromeTuberoussclerosis（intracardiactumors）Marfansyndrome（AVvalveabnormalities,dilatedroot,CM）Ellis-vanCreveldsyndrome（AVcanal,coarc,HLHS）Noonansyndrome（pulmonarystenosis,HCM）DiGeorge/velocardiofacialsyndrome（TOF,IAA,truncusarteriosus）MaternalLQTSAPCCexperience*DatabasecollectedandmanagedbyLynnLitwinowich,APCCfetalnursecoordinator,fromJanuary2011toJanuary2014AssistedReproductiveTechnologyARTFertilityrelatedservices（artificialinsemination,inductorsofovulation）Removalofawomanseggsfromherbody,“mixing”themwithspermtomakeanembryo,andthenreintroducethemtothewomansbodyInvitrofertilization/IVF（1978）Intracytoplasmicsperminjection/ICSI（1992）Represents1%to4%ofbirthsindevelopedcountriesARTFirstinfantborntoARTwasover30yearsago（1978）CDCstartedcollectingdataonARTintheUSin1996NationaldatafromtheCDConARTin2010:

@#@147,260totalARTprocedures47,090livebirths=61,564infantsARTcontributedto1.5%ofallUSlivebirthsin2010ARTcontributedto20%ofallmultiplebirths46%ofinfantsconceivedwithARTaremultiplesARTThemajorityofthemorerecentpopulationbasedstudiesdoshowastatisticallysignificantincreaseinbirthdefectsinpregnanciesutilizingARTversusnaturalpregnancies.IsthisincreasedriskduetotheARTprotocolsthemselvesortheunderlyingdisturbanceleadingtoacouplesinfertility?

@#@TherearefewstudieslookingattherelationshipofspecificbirthdefectsandARTARTandtheriskofCHDTarabit,K.etal.,EuroHeartJ,2011UtilizingtheParisRegistryofCongenitalMalformationsComparedexposuretoARTbetweencasesofCHDvs.othermalformationsinchromosomallynormalinfants（pickedmalformationsthathavenotbepreviouslyreportedtobeassociatedwithART）4.7%ofchildrenbornwithCHDversus3.6%ofchildrenbornwithadifferentmalformation（p=0.008）wereexposedtoART40%increaseintheoverallriskofCHDwithoutchromosomalabnormalitiesinchildrenconceivedfollowingARTaftertakingintoaccountmaternalage,socioeconomicfactors,andyearofbirthARTandtheriskofCHDSpecifictypesofCHDweremorecommonlyfoundinchildrenexposedtoART（IVFandICSI）including:

@#@MalformationsoftheoutflowtractsAbnormalitiesoftheventricular-arterialconnectionsDoubleoutlet