搜索
InternationalOrganization1.WilsonJMG,JungerF.Principlesandpracticeofscreeningfordisease.Geneva,Switzerland:WorldHealthOrganization,1968;26-39.Publichealthpapersno.34.2.Primaryhealthcareapproachesforprevention:ancontrolofcongenitalandgeneticdisorders.WHO1999;Documentreference:WHO/HGN/WG/00.13.ISNSGeneralGuidelinesforNeonatalScreening.:cost,yieldandoutcome.HealthTechnolAssessment1997:1(7)2.SeymourCA,etal.Newbornscreeningforinbornerrorsofmetabolism:asystematicreview.HealthTechnolAssessment1997:1(11)3.PandorA,etal.Clinicaleffectivenessandcost-effectivenessofneonatalscreeningforinbornerrorsofmetabolismusingtandemmassspectrometry:asystematicreviewHealthTechnolAssessment2004:8(12)AustraliaandNewZealand1.HumanGeneticsSocietyofAustralasia---NewbornScreeningPolicy:Programs,PrinciplesandResearch.Washington,DC:NationalAcademyofSciences;1975(NAS)2.AndrewsLB,etal.eds.AssessinGeneticRisks.ImplicationsforHealthandSocialPolicy.WashingtonDC:NationalAcademyofSciences;1994(IOM)3.HoltzmanNA,WatsonMS,eds.PromotingSafeandEffectiveGeneticTestingintheUnitedStates:FinalReportoftheTaskForceonGeneticTesting.Bethesda,MD:NationalInstituesofHealth;1997(NIH)4.NationalTaskForceonNewbornScreening.NewbornScreening:ABlueprintfortheFuture.Pediatrics2000;106(2):386–422(AAP)5.TherrellBL,etal.USNewbornScreeningSystemsGuidelines.StatementoftheCouncilofRegionalNetworksforGeneticServices.Screening1992;1:135-47(CORN)6.PassKA,etal.USnewbornscreeningsystemguidelinesII:follow-upofchildren,diagnosis,management,andevaluation.StatementoftheCouncilofRegionalNetworksforGeneticServices.JPediatr2000;137(4Suppl):S1-46(CORN)(WHO)PPrriinncciipplleessooffEEaarrllyyDDiisseeaasseeDDeetteeccttiioonn——WWiillssoonnaannddJJuunnggnneerr,,11996688——1.Theconditionsoughtshouldbeanimportanthealthproblem.2.Thereshouldbeanacceptedtreatmentforpatientswithrecognizeddisease.3.Facilitiesfordiagnosisandtreatmentshouldbeavailable.4.Thereshouldbearecognizablelatentorearlysymptomaticstate.5.Thereshouldbeasuitabletestorexamination.6.Thetestorexaminationshouldbeacceptabletothepopulation.7.Thenaturalhistoryofthecondition,includingdevelopmentfromlatenttodeclareddisease,shouldbeadequatelyunderstood.8.Thereshouldbeanagreedpolicyonwhomtotreataspatients.9.Thecostofcasefinding(includingdiagnosisandtreatmentofpatientsdiagnosed)shouldbeeconomicallybalancedinrelationtopossibleexpenditureonmedicalcareasawhole.10.Case-findingshouldbeacontinuingprocessandnota“onceandforall”project.WilsonJMG,JungerF.Principlesandpracticeofscreeningfordisease.Geneva,Switzerland:WorldHealthOrganization,1968;26-39.Publichealthpapersno.34.YearYearNo.ofbirthNo.ofbirthNo.ofexamNo.ofexamScreeningScreeningrarate%te%CHTPKUCHTPKUHCUHCUGALGALG6PDG6PD1984371,00824,6576.72100-1985346,20838,79211.29300-1986309,23071,66623.227200-1987314,024117,73937.5383104131988342,031192,60156.3672101,6651989315,299214,47768.0656002,6051990335,618266,31279.4564002,6491991321,932282,45387.75511304,4301992321,632302,57194.1498105,0091993325,613314,78196.7699105,9651994322,938315,95297.8754404,8681995329,581320,45697.25615015,9671996325,545321,28298.7606116,5721997326,002322,83599.010310206,4271998271,450267,08998.41198115,0841999283,661282,39599.61997115,8792000305,312304,39499.724314006,1872001260,354255,64398.21758203,8082002247,530246,47999.61956304,0494,462,5741,66212721471,577()1/601/2,6851/35,0001/212,0001/1,115,000():(200312)YearNo.ofbirthNo.ofexamScreeningrate%CHTPKUHCUGALG6PD1984371,00824,6576.72100-1985346,20838,79211.211301-1986309,23071,66623.229200-1987314,024117,73937.5473104131988342,031192,60156.3752101,6651989315,299214,47768.0776002,6051990335,618266,31279.4856002,6491991321,932282,45387.713012204,4301992321,632302,57194.11099105,0091993325,613314,78196.716711115,9651994322,938315,95297.81825304,8681995329,581320,45697.217117005,9671996325,545321,28298.71756206,5721997326,002322,83599.019311306,4271998271,450267,08998.41648105,0841999283,661282,39599.62248115,8792000305,312304,39499.716114016,1872001257,035255,64499.52138004,8222002247,530246,50699.623810124,3074,462,6022,45314217672,8491/601/1,8001/31,4001/263,0001/744,000():(20041)92/01/01~92/12/31*3()4()5()6()7()8~10()10()69,091451(0.7%)3,918(5.7%)12,340(17.9%)15,084(21.8%)13,380(19.4%)17,512(25.4%)6,406(9.0%)54,31742(0.1%)1,942(3.6%)7,210(13.3%)10,156(18.7%)12,286(22.6%)18,830(34.7%)3,851(7.0%)123,408493(0.4%)5,860(4.7%)19,550(15.8%)25,240(20.5%)25,666(20.8%)36,342(29.4%)10,257(8.3%)*103,42184.1%392.3%380%7(:1984~2002)NormaltomildNo.ofpatientSevereDeathUnknownModerateDiseaseCHT2,4532,2590035159PKU1421410100Homocystinuria440000Galactosemia630003G6PDdeficiency72,84972,845(?)0040:(20041)(I)A.A1CongenitalAdrenalHyperplasia√√√A2MapleSyrupUrineDisease√√√B.B1BiotinidaseDeficiencyB2CysticFibrosisB3MediumChainAcyl-CoADehydrogenasedeficiency√√√B4SickleCell