Risk-factors-for-CHD(先天性心脏病危险因素).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