新生儿严重先天性心脏病的筛查桑才华课件

新生儿严重先天性心脏病的筛查 目前的实践与未来的展望 GerardR Martin MDC RichardBeydaDistinguishedProfessorinCardiology 在过去的11年里 自从我开始从事儿童心脏的网络信息工作 C H I N 当听人说起某小孩因婴儿时期漏诊先心病而带来悲剧或严重终身疾病时 其父母会悲痛得发狂 对于我来说又是煎熬的一天 MonaBarmash PresidentofChildren sHeartInformationNetworkJCCHDMeeting Fall2007 父母的观点 研究目的 认识新生儿严重先心病筛查的必要性回顾既往及目前新生儿严重先心病的筛查手段讨论未来可能的筛查策略 胎儿循环 过渡期循环 循环变化包括 全身循环阻力升高肺血管阻力降低左心房压力升高动脉导管及卵圆孔闭合左心室每搏输出量增加自主神经改变包括 高交感状态 可疑的心脏疾病 新生儿与先心病 先心病影响5 10 1000存活的新生儿最常见的先天缺陷4 1000在出生的第一年即需要矫治 HoffmanJACC39 2002 新生儿与先心病 先心病具有较高的患病率和死亡率近40 死于先天性畸形大部分死于婴儿时期 BonevaCirc103 2001 新生儿与先心病 新生儿期及时识别至关重要目前在孕期和新生儿期诊断率分别只有23 和11 BullLancet354 1999 严重先心病的漏诊 MellanderActaPaediatrica95 2006 严重先心病的漏诊 MellanderActaPaediatrica95 2006 22 51 43 oflatediagnosisinshockonadmission 新生儿与先心病 KuehlPeds103 1999 新生儿与先心病 WreninArchDisChildFetalNeonatalEd80 1999 1 发现前死亡 单独体格检查仅发现44 的先心病 血氧饱和度筛查 KoppelPediatrics111 2003 用脉搏血氧饱和度筛查先心病 脉搏血氧饱和度即测量血中的总氧含量无创 无痛 正常成人循环 过渡期循环 PassingSatBoth98 单纯性大动脉转位 FailingSatBoth65 室间隔缺损合并主动脉弓离断 FailingSatLegs90 左心室发育不良综合症 PassingSatBoth90 室间隔完整的肺动脉闭锁 FailingSatBoth82 脉搏血氧饱和度筛查 ThangaratinamArchDisChildFetalNeonatalMed92 2007 高敏感性 HighestSpecificityintestsafter24hours 脉搏血氧饱和度筛查 ValmariArchDisChildFetalNeonatalEd92 2007 体格检查 脉搏血氧饱和度 BakrPedCard26 2005 体格检查 脉搏血氧饱和度 GriebschIntJTechAssesHealthCare23 2007 我们为何无所为 心脏科医生未得到足够的支持 倡导是必须的 Chang Rodriguez Klitzner 2008 AHA AAP科学声明 目的 获得常规应用脉搏血氧饱和度筛查新生儿严重先心病的证据检索从1966 2008Medline数据库利用AHA分类建议和证据推荐级别应用指南汇集存活24h以上的研究进行分析敏感性69 6 阳性预测值47 假阳性需要进一步检查0 035 AHA AAP科学声明 结论 部分婴儿严重先心病未被发现漏诊主要与发病率有关 有时与死亡率有关脉搏血氧饱和度可以用筛查严重先心病出生后24小时脉搏血氧饱和度检查低成本低风险需要在更大范围的人群中 通过新生儿分娩系统进行研究决定其是否列为标准手段 AHA AAP科学声明 欧洲所作的努力 GranelliTable2 GranelliBMJ338 2009 欧洲所作的努力 MebergJPeds152 2008 在新生儿病房应用脉搏血氧饱和度作为严重先心病筛查工具的可行性AHolyCrossHospitalandChildren sNationalMedicalCenterIRBApprovedResearchProtocol ThisstudymadepossiblebyTheElsieandMarvinDekelboumFamilyFoundation 方案 Participantinnewbornnurseryandmaternitysuitesandeligibleforscreening PulseoximetryofrighthandandrightfootperformedbyHolyCrossnursingassistantinconjunctionwithPKUscreen Pulseoximetryreadinglessthanorequalto95 forrighthandand orrightfootorgreaterthanorequalto3 differencebetweenrighthandandfoot Pulseoximetryreadinggreaterthan95 forbothrighthandandrightfootandlessthanorequalto3 differencebetweenrighthandandrightfoot Nonotificationofreadingsrequired Nofurthercardiacevaluationinthenewbornnurseryunlessindicatedbysubsequentphysicalexamorpatientpresentation Evaluationand orconsultationatthediscretionofMD NPcaringforparticipant Criticalcongenitalheartdiseasepresent absent Motherreceivedinformationsheetandagreedtoinfantparticipation EchocardiogramRecommended Ifpulseoximetryreadinglessthanorequalto90 orsigns symptomsofhemodynamicabnormalities infanttransferredtoNICU RNcaringforpatientnotifiedbynursingassistant Refer Pass MD NPcaringforpatientnotifiedbyRN 先天性心脏病筛查研究 先天性心脏病筛查的研究 初步发现共入选3 006例婴儿实际筛查2 920例 97 16例因不符合入选标准排除 70例未筛查 1例拒绝2假阳性 2inconclusive 1真阳性筛查时间 大约5分钟 例平均PoxSat 98 99 筛查的主要困难 筛查量较大的日期 早期出院大约90 的妈妈愿意接受随访并同意参与该研究 ScreeningforCriticalCongenitalHeartDiseaseinNeonates CurrentPracticeandFutureOpportunities GerardR Martin MDC RichardBeydaDistinguishedProfessorinCardiology Parent sPerspective Parent sPerspective OvertheelevenyearssinceIstartedC H I N hardlyadaygoesbywhenIdonothearfromadistraughtparentwhosechildwasnotdiagnosedatbirth leadingtotragicorseriouslife longconsequences MonaBarmash PresidentofChildren sHeartInformationNetworkJCCHDMeeting Fall2007 LearningObjectives RecognizetheneedforscreeningforcriticalheartdiseaseinneonatesReviewthepastandcurrentpracticeofscreeningforcriticalheartdiseaseinneonatesDiscussfuturepossiblescreeningstrategies FetalCirculation TransitionalCirculation Circulatorychangesinclude IncreaseinsystemicvascularresistanceDecreaseinpulmonaryvascularresistanceIncreaseinleftatrialpressureClosureofductusarteriosus foramenovaleIncreaseinleftventricularstrokevolumeAutonomicchangesinclude Hypersympatheticstate TheNeonatewithSuspectedHeartDisease NewbornswithCHD CongenitalHeartDiseaseaffects5 10 1000LBthemostcommonbirthdefect4 1000requireRxinthefirstyearoflife HoffmanJACC39 2002 NewbornswithCHD CHDhassignificantmorbidity mortalitynearly40 deathsfromcongenitalanomaliesmajorityofdeathsoccuramonginfants BonevaCirc103 2001 NewbornswithCHD TimelyrecognitioninNBperiodiscriticalprenataldiagnosismadeinonly23 ofpregnanciesandonly11 ofLB BullLancet354 1999 FailuretodiagnosecriticalCHD MellanderActaPaediatrica95 2006 FailuretodiagnosecriticalCHD MellanderActaPaediatrica95 2006 22 51 43 oflatediagnosisinshockonadmission NewbornswithCHD KuehlPeds103 1999 NewbornswithCHD WreninArchDisChildFetalNeonatalEd80 1999 1 deadpredetection Only44 haddetectionbyPEalone PulseOximetryScreening KoppelPediatrics111 2003 PulseOximetryasScreeningMethod PulseoximetrymeasurestheamountofoxygeninthebloodNon invasiveandpainlesstest NormalAdultCirculation TransitionalCirculation PassingSatBoth98 SimpleTranspositionoftheGreatArteries FailingSatBoth65 InterruptedAorticArchwithVSD FailingSatLegs90 HypoplasticLeftHeartSyndrome PassingSatBoth90 PulmonaryAtresiaIntactSeptum FailingSatBoth82 PulseOximetryScreening ThangaratinamArchDisChildFetalNeonatalMed92 2007 HighestSensitivity HighestSpecificityintestsafter24hours PulseOximetryScreening ValmariArchDisChildFetalNeonatalEd92 2007 PhysicalExam PulseOximetry BakrPedCard26 2005 PhysicalExam PulseOximetry GriebschIntJTechAssesHealthCare23 2007 Whyhavewenotdoneanything Cardiologistshavenotbeensupportiveofscreening Advocacynecessary Chang Rodriguez Klitzner 2008 AHA AAPScientificStatement Purpose addressevidenceontheroutineuseofpulseoximetryinnewbornstodetectcriticalCHDMedlinedatabasesearchesfrom1966 2008UtilizedAHAclassificationofrecommendationsandlevelsofevidenceforpracticeguidelinesAnalysisofpooledstudiesperformedafter24hlifeSensitivity69 6 PPV47 Falsepositivescreensrequiringfurthertesting0 035 AHA AAPScientificStatement Conclusions CriticalCHDisnotdetectedinsomeinfantsFailuretodetectisassociatedwithsignificantmorbidityandoccasionalmortalityPulseoximetrymaydetectcriticalCHDRoutinepulseoximetryafter24hoursincurslowcostandriskofharmFurtherstudiesinlargerpopulationsnecessaryacrossabroadrangeofnewborndeliverysystemstodecidewhetherthisshouldbestandardofcare AHA AAPScientificStatement EuropeanEfforts GranelliTable2 GranelliBMJ338 2009 EuropeanEfforts MebergJPeds152 2008 FeasibilityofImplementationofPulseOximetryasaScreeningToolforCriticalCongenitalHeartDiseaseintheNewbornNurseryAHolyCrossHospitalandChildren sNationalMedicalCenterIRBApprovedResearchProtocol ThisstudymadepossiblebyTheElsieandMarvinDekelboumFamilyFoundation Protocol Participantinnewbornnurseryandmaternitysuitesandeligibleforscreening PulseoximetryofrighthandandrightfootperformedbyHolyCrossnursingassistantinconjunctionwithPKUscreen Pulseoximetryreadinglessthanorequalto95 forrighthandand orrightfootorgreaterthanorequalto3 differencebetweenrighthandandfoot Pulseoximetryreadinggreaterthan95 forbothrighthandandrightfootandlessthanorequalto3 differencebetweenrighthandandrightfoot Nonotificationofreadingsrequired Nofurthercardiacevaluationinthenewbornnurseryunlessindicatedbysubsequentphysicalexamorpatientpresentation Evaluationand orconsultationatthediscretionofMD NPcaringforparticipant Criticalcongenit