newborn screening ontario's expanded screening program：新生儿筛查安大略扩展的筛选程序

《newborn screening ontario's expanded screening program：新生儿筛查安大略扩展的筛选程序》由会员上传分享，免费在线阅读，更多相关内容在教育资源-天天文库。

1、NewbornScreening:Ontario’sExpandedScreeningProgramPreparedby:JuneCCarrollMD,CCFP,FCFPSydneyG.FrankfortChairinFamilyMedicineMountSinaiHospital,UniversityofTorontoAndreaRideoutMS,CGC,CCGCCertifiedGeneticCounsellorProjectManager–TheGeneticsEducationProjectFundedby:OntarioWomen’sHealthCounci

2、lVersion:May2010AcknowledgmentsReviewers:MembersofTheGeneticsEducationProjectOntarioNewbornScreeningProgram:Dr.MichaelGeraghty,MireilleCloutierMSc.,ChristinaHoneywellMSc.,SariZelenietzMSc,ShelleyKennedyMSc.Fundedby:OntarioWomen’sHealthCouncilaspartofitsfundingtoTheGeneticsEducationProjec

3、t*Healthcareprovidersmustusetheirownclinicaljudgmentinadditiontotheinformationpresentedherein.Theauthorsassumenoresponsibilityorliabilityresultingfromtheuseofinformationinthispresentation.NewbornScreening–What’snew?Previously:PKU,congenitalhypothyroidism,hearinglossBeginningApril2006:Pro

4、gressiveexpansionto29primarydisordersNBSincludeshearingscreeningbut,thefocusofthismodulewillbeonmetabolic,endocrineandhematologicconditionsExpandedNBS–29conditions20inbornerrorsofmetabolism3hemoglobinopathies2endocrinedisordersCongenitalhypothyroidismCongenitaladrenalhyperplasia3othermet

5、abolicdisordersCysticfibrosisGalactosemiaBiotinidasedeficiencyHearinglossBenefitsofNBSIdentificationEarlyinterventionReducedmorbidity&mortalityFamilyplanningRisksofNBSParentalanxiety(falsepositives)Misseddiagnosis(falsenegatives)Theright‘nottoknow’UnanticipatedoutcomesLabelling–diagnosis

6、ofbenignconditionsNBS:how&whereisitdone?Method:HeelprickSamplecollection:newbornscreeningcardTestingLocation:NewbornScreeningOntario(NSO)atChildren’sHospitalofEasternOntario(CHEO)Transportation:NBScardsaresentviacourierserviceTimingofTestingAcceptablesamplesbetween1day(24hours)and7daysaf

7、terbirthBesttimeforsample:between2days(48hours)and3days(72hours)afterbirthIftestedbefore1day(24hours)ofage,REPEATthetestwithin5days*Ifthebabyis>5days,screeningisstillavailableContactNSOprogramfordetails*Repeatsamplewithin5dayshasbeentheOntariostandardofcaresince2001Specia