Mass Screening Using Tandem Mass （利用串联质大规模筛查）.ppt

Mass Screening Using Tandem Mass Spectrometry: Friend or Foe? Dawn C. Allain, MS, CGC Children’s Hospital of Wisconsin History of NBS 1957 - Dr. Centerwall 1961 - Dr. Guthrie 1963 - MA and OR implement legislation History of NBS 1997 - NC begins piloting MS/MS 1999 - NC and MA begin newborn screening with MS/MS 2000 - WI begins MS/MS NBS States Screening by MS/MS Maine Massachusetts Minnesota North Carolina Ohio Wisconsin ** as of September 2001 – Why Use MS/MS? Small sample size requirement Fast Screens for many diseases Cost Public awareness and advocacy Mass Spectrometry Ion separation and quantification Produces charged particles Uses electrical and magnetic fields Detection system MS/MS Analysis Aminoacidopathies Organic acidurias Fatty acid oxidation disorders Aminoacidopathies Arginosuccinic Aciduria Citrullinemia Homocystinuria Maple Syrup Urine Disease Phenylketonuria Tyrosinemia Organic Acid Disorders 2,4-Dienoyl-CoA Reductase Deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 3-Ketothiolase Deficiency Organic Acid Disorders 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Methylglutaconyl-CoA Hydratase Deficiency Glutaric Acidemia Type I Organic Acid Disorders Isovaleric Acidemia Methylmalonic Acidemia Mulitple CoA Carboxylase Deficiency Propionic Acidemia Fatty Acid Oxidation Disorders 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency (LCHAD) Carnitine Palmitoyl Transferase Deficiency Type II (CPT II) Long Chain Acyl-CoA Dehydrogenase Deficiency (LCAD) Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) Fatty Acid Oxidation Disorders Multiple Acyl-CoA Dehydrogenase Deficiency (Glutaric Aciduria type II) Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) Newborn Screening Criteria Criteria Incidence 1/100,000 Significant morbidity/mortality Successful treatment Reasonable cost Technology OA/FAOD/AA 1/5,000 to 1/10,000