Newborn Screening: Conditions Newborns are Screened for in Wisconsin

As part of the Newborn Screening program, babies born in Wisconsin are screened for many conditions within the first days of life.

Newborn blood screening conditions

The newborn blood screening checks for a number of conditions. For a full listing, view Disorders on the Newborn Blood Screening Panel from Wisconsin State Laboratory of Hygiene.

• Amino Acid
  • Argininosuccinic acidemia (PDF)
  • Citrullinemia type I (PDF)
  • Citrullinemia type II
  • Homocystinuria
  • Hypermethioninemia
  • Hyperphenylalaninemia
  • Maple syrup urine disease
  • Phenylketonuria (PDF)
  • Tyrosinemia, type I (PDF)
  • Tyrosinemia type II (TYR II)
  • Tyrosinemia type III (TYR III)
• Endocrine
  • Congenital adrenal hyperplasia
  • Congenital hypothyroidism
• Hemoglobin
  • Hemoglobin S-Beta Thalassemia
  • Hemoglobin S/C disease
  • Sickle cell disease
  • Additional Reportable Hemoglobin conditions for clinical care in Wisconsin include Beta Thalassemia; E, Beta-Thalassemia; C, and Beta-Thalassemia.
• Fatty acid oxidation
  • Carnitine acylcarnitine translocase deficiency (PDF)
  • Carnitine palmitoyl transferase deficiency, type II (PDF)
  • Carnitine uptake defect / carnitine transporter deficiency (PDF)
  • 2,4 dienoyl-CoA reductase deficiency
  • Glutaric acidemia, type II (PDF)
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (PDF)
  • Medium chain acyl-CoA dehydrogenase deficiency (PDF)
  • Medium-chain 3-ketoacyl-CoA thiolase deficiency
  • Medium / short-chain hydroxyacyl-CoA dehydrogenase deficiency
  • Trifunctional protein deficiency (PDF)
  • Very long chain acyl-CoA dehydrogenase deficiency (PDF)
• Organic acid
  • Beta-ketothiolase deficiency / mitochondrial acetoacetyl-CoA thiolase deficiency (PDF)
  • Glutaric acidemia, type I (PDF)
  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
  • Isovaleric acidemia (PDF)
  • 3-methylcrotonyl CoA carboxylase deficiency (PDF)
  • 3-methylglutaconyl-CoA hydratase deficiency aciduria
  • 2-methyl 3-hydroxybutyryl-CoA dehydrogenase deficiency
  • Methylmalonic acidemia, Cbl A and Cbl B (PDF)
  • Methylmalonic acidemia, Cbl C and Cbl D
  • Methylmalonic acidemia, mutase deficiency (PDF)
  • Multiple CoA carboxylase deficiency / holocarboxylase synthase deficiency
  • Propionic acidemia (PDF)
• Other
  • Biotinidase deficiency
  • Cystic fibrosis
  • Galactosemia
  • Pompe
  • Severe combined immunodeficiency
  • Spinal muscular atrophy

Critical congenital heart disease

Learn more about this screening from the Wisconsin SHINE Project.

Hearing Loss

Learn more about this screening from Wisconsin Sound Beginnings, the state’s Early Hearing Detection and Intervention Program.