Newborn Screening

Newborn Hearing Screening

Effective January 1, 2002, state law mandates screening the hearing of all infants born in Missouri. The purpose of the Newborn Hearing Program is to identify infants with hearing loss and ensure their linkage with services. Early identification and treatment of hearing loss are essential so that speech, language, and learning can develop as normally as possible.

Newborn Blood Spot Screening

Missouri law mandates newborn screening for all infants.
As of July 1, 2005 Missouri's Newborn Screening Program screens newborns for the following disorders:

Galactosemia
Congenital Hypothyroidism (CH)
Sickle Cell/Hemoglobinopathies
Congenital Adrenal Hyperplasia (CAH)
Cystic Fibrosis (CF)

Amino Acid Disorders

• Argininosuccinic aciduria (ASA)
• Citrullinemia (CIT)
• Homocystinuria (HCY)
• Hypermethioninemia (MET)
• Maple syrup urine disease (MSUD)
• Phenylketonuria (PKU)
  
• Tyrosinemias (TYR-I, TYR-II)*

Fatty Acid Oxidation Disorders

• Carnitine/acylcarnitine translocase deficiency (CACT)
• Carnitine palmitoyl transferase deficiency (CPT-II)
• Carnitine Uptake Deficiency (CUD)*
• 3-Hydroxy-hexadecanoyl disorders (LCHAD,TFP)
• Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
• Multiple acyl-CoA dehydrogenase deficiency (GA-II)
• Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
• Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Organic Acid Disorders

• Glutaric acidemia, type I (GA-I)
• Isovaleric acidemia (IVA)
• Methylmalonic acidemias (MUT, CblA,B)
• Propionic acidemia (PROP)
• 3-Hydroxy-isovaleryl disorders (3MCC,HMG, BKT, MCD)

*There is a lower probability of detection of this disorder during the immediate newborn period.

The goal of the Newborn Blood Spot Screening Program is to identify infants at risk and in need of diagnostic testing for the above disorders. Infants with positive newborn screen results for a particular condition are followed up to ensure that confirmatory testing is done. Infants found to be positive are entered into a system of medical care. A normal screening result does NOT rule out the possibility of an underlying metabolic/genetic disease.