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