Recommended Newborn Screenings

Check out our complete guide to the tests all infants should receive before leaving the hospital.

The March of Dimes recommends screening all newborns for 29 treatable conditions, which are divided into the following five categories:

Amino Acid Metabolism Disorders

These conditions (in some cases) result from a lack of the enzymes needed to break down amino acids (the building blocks of protein) or deficiencies in the enzymes that help the body rid itself of the nitrogen incorporated in amino acid molecules:

Maple Syrup Urine Disease
Argininosuccinic Academia
Tyrosinemia Type I

    Organic Acid Metabolism Disorders

    These inherited disorders result from the loss of activity of an enzyme involved in the breakdown of amino acids (the building blocks of proteins) and other substances.

    Isovaleric Acidemia
    Glutaric Acidemia Type I
    Hydroxymethylglutaric Aciduria or HMG-CoAlyase
    Multiple Carboxylase Deficiency
    Methylmalonic Acidemia due to mutase deficiency
    Methylmalonic Acidemia, cblA and cblB forms
    3-Methylcrotonyl-CoA Carboxylase Deficiency
    Propionic Acidemia
    Beta-Ketothiolase Deficiency

      Fatty Acid Oxidation Disorders

      Inherited defects of the enzymes needed to convert fat into energy trigger these conditions:

      Medium-Chain acyl-CoA Dehydrogenase Deficiency
      Very Long-Chain acyl-CoA Dehydrogenase Deficiency
      Long-Chain 3-OH acyl-CoA Dehydrogenase Deficiency
      Trifunctional Protein Deficiency
      Carnitine Uptake Defect
      Medium-Chain acyl-CoA Dehydrogenase Deficiency


        These conditions are inherited diseases of red blood cells:

        Sickle Cell Anemia
        Hb S/Beta-Thalassemia
        Hb S/C Disease


          These are a mixed group of disorders that include some inherited diseases and some that are not genetic:

          Congenital Hypothyroidism
          Biotinidase Deficiency
          Congenital Adrenal Hyperplasia
          Classical Galactosemia
          Hearing Loss
          Cystic Fibrosis

            All content here, including advice from doctors and other health professionals, should be considered as opinion only. Always seek the direct advice of your own doctor in connection with any questions or issues you may have regarding your own health or the health of others.

            Copyright ? 2006