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1、ExpandedNewbornScreening: PublicHealthPolicyandClinicalImpactNutrition526October18,2010BethOgata,MS,RD,CSP,bogata@uw.eduCristineMTrahms,MS,RD,FADANewbornScreeningAstatemandatedpublichealthprogramthatbeginswitha“heelpoke”foreverybabybeforehospitaldisch
2、argeFirstscreenmustbetaken24-48hoursofliferegardlessoffeedingstatusorweightBloodSampleonGuthrieFilterPaperCardWhoisscreened?WashingtonStatelawrequiresthateverynewbornbetestedpriortodischargefromthehospitalorwithinfivedaysofageSecondscreenstronglyrecom
3、mendedbetween7and14daysofage)ThirdscreenrecommendedforsickandprematureinfantsWhydonewbornscreening?ScreenapresumablyhealthynewbornpopulationDetectdiseasebeforesymptomspresentclinicallyGoal:PreventorreducemorbidityandmortalityCriteriaforNewbornScreenin
4、gImportantconditionAcceptabletreatmentavailableFacilitiesfordiagnosisandtreatmentDifficulttorecognizeearlySuitablescreeningtestNaturalhistoryknownCost-effectivetodiagnoseandtreatWilson&Jungner,1968TandemMassSpectrometry(MS/MS)HighImpactandHighThroughp
5、utOnedisease,onetestisnotcost-effectiveManydiseases,onetestiscost-effectiveMS/MSallowsforrapid,simultaneousanalysisanddetectionofmanydisordersofaminoacid,organicacid,andfattyacidmetabolismTandemMassSpectrometer(MS/MS)MS/MSMethodologyBloodspotspunched(
6、3/16thinchdisc)Stableisotopeinternalstandardsadded(deuterated)ButylestersderivativesmadeAutomaticinjectionintoMS/MSvia96wellplatesSamplesetupdetermineswhichmassesandthereforewhichcompoundsaredetected2minuteanalysistimeAutomateddataprocessingforresults
7、MS/MSMethodology–continuedCompoundsanalyzedareaminoacidsandacylcarnitinesAminoacids–toidentifyPKU,MSUD,homocystinuriaAcylcarnitine–carnitine(vehicle)+fattyacidforidentificationoforganicaciduriasandfattyacidoxidationdisorders******C2100%Intensity*inter
8、nalstandardsControlIntensity100%******MCADC2C16C8C10:1C6MS/MSPlasmaAcylcarnitinesMS/MSPlasmaAminoAcidsWhatisthescopeofnewbornscreening?Screen~80,000newbornsReceive~160,000specimensTrack~3000infantswithabnormalresultsPrevent~140babiesfromdeatho
