• Source: List of disorders included in newborn screening programs

    • This is a list of disorders included in newborn screening programs around the world, along with information on testing methodologies, disease incidence and rationale for being included in screening programs.


    American College of Medical Genetics recommendations




    = Core panel

    =
    The following conditions and disorders were recommended as a "core panel" by the 2005 report of the American College of Medical Genetics (ACMG). The incidences reported below are from the full report, though the rates may vary in different populations.
    Blood cell disorders

    Sickle cell anemia (Hb SS) > 1 in 5,000; among African-Americans 1 in 400
    Sickle-cell disease (Hb S/C) > 1 in 25,000
    Hb S/Beta-Thalassemia (Hb S/Th) > 1 in 50,000
    Inborn errors of amino acid metabolism

    Tyrosinemia I (TYR I) < 1 in 100,000
    Argininosuccinic aciduria (ASA) < 1 in 100,000
    Citrullinemia (CIT) < 1 in 100,000
    Phenylketonuria (PKU) > 1 in 25,000
    Maple syrup urine disease (MSUD) < 1 in 100,000
    Homocystinuria (HCY) < 1 in 100,000
    Inborn errors of organic acid metabolism

    Glutaric acidemia type I (GA I) > 1 in 75,000
    Hydroxymethylglutaryl lyase deficiency (HMG) < 1 in 100,000
    Isovaleric acidemia (IVA) < 1 in 100,000
    3-Methylcrotonyl-CoA carboxylase deficiency (3MCC) > 1 in 75,000
    Methylmalonyl-CoA mutase deficiency (MUT) > 1 in 75,000
    Methylmalonic aciduria, cblA and cblB forms (MMA, Cbl A,B) < 1 in 100,000
    Beta-ketothiolase deficiency (BKT) < 1 in 100,000
    Propionic acidemia (PROP) > 1 in 75,000
    Multiple-CoA carboxylase deficiency (MCD) < 1 in 100,000
    Inborn errors of fatty acid metabolism

    Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) > 1 in 75,000
    Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) > 1 in 25,000
    Very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD) > 1 in 75,000
    Trifunctional protein deficiency (TFP) < 1 in 100,000
    Carnitine uptake defect (CUD) < 1 in 100,000
    Miscellaneous multisystem diseases

    Cystic fibrosis (CF) > 1 in 5,000
    Congenital hypothyroidism (CH) > 1 in 5,000
    Biotinidase deficiency (BIOT) > 1 in 75,000
    Congenital adrenal hyperplasia (CAH) > 1 in 25,000
    Classical galactosemia (GALT) > 1 in 50,000
    Newborn screening by other methods than blood testing

    Congenital deafness (HEAR) > 1 in 5,000


    = Secondary targets

    =
    The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals.
    Blood cell disorders

    Variant hemoglobinopathies (including Hb E)
    Glucose-6-phosphate dehydrogenase deficiency (G6PD)
    Inborn errors of amino acid metabolism

    Tyrosinemia II
    Argininemia
    Benign hyperphenylalaninemia
    Defects of biopterin cofactor biosynthesis
    Defects of biopterin cofactor regeneration
    Tyrosinemia III
    Hypermethioninemia
    Citrullinemia type II
    Inborn errors of organic acid metabolism

    Methylmalonic acidemia (Cbl C,D)
    Malonic acidemia
    2-Methyl 3-hydroxy butyric aciduria
    Isobutyryl-CoA dehydrogenase deficiency
    2-Methylbutyryl-CoA dehydrogenase deficiency
    3-Methylglutaconyl-CoA hydratase deficiency
    Glutaric acidemia type II
    HHH syndrome (Hyperammonemia, hyperornithinemia, homocitrullinuria syndrome)
    Beta-methyl crotonyl carboxylase deficiency
    Adenosylcobalamin synthesis defects
    Inborn errors of fatty acid metabolism

    Medium/short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency
    Medium-chain ketoacyl-CoA thiolase deficiency
    Dienoyl-CoA reductase deficiency
    Glutaric acidemia type II
    Carnitine palmityl transferase deficiency type 1
    Carnitine palmityl transferase deficiency type 2
    Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
    Carnitine/acylcarnitine Translocase Deficiency (Translocase)
    Short-chain hydroxy Acyl-CoA dehydrogenase deficiency (SCHAD)
    Long-chain acyl-CoA dehydrogenase deficiency (LCAD)
    Multiple acyl-CoA dehydrogenase deficiency (MADD)
    Miscellaneous multisystem diseases

    Galactokinase deficiency
    Galactose epimerase deficiency
    Maternal vitamin B12 deficiency


    = Disorders added after the initial panel was defined

    =
    In addition to identifying a core list of disorders that infants in the United States should be screened for, the ACMG also established a framework for nominating future conditions, and the structure under which those conditions should be considered.

    Severe combined immune deficiency (SCID) - added in 2009
    Critical congenital heart defects (Screened using pulse oximetry) - added in 2010
    Pompe disease - added in 2013
    Mucopolysaccharidosis type I - added in 2015
    X-linked adrenoleukodystrophy - added in 2018
    Spinal muscular atrophy - added in 2018


    References

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