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 December 31, 2008 Missouri's Newborn Screening Program screens newborns for the following disorders:

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

Amino Acid Disorders

Argininemia (ARG, arginase deficiency)
Argininosuccinic Acidemia (ASA, argininosuccinase)
Citrullinemia type I (CIT-I, argininosuccinate synthetase)
Citrullinemia type II (CIT-II, citrin deficiency)
Defects of biopterin cofactor biosynthesis (BIOPT-BS)
Defects of biopterin cofactor regeneration (BIOPT-RG)
Homocystinuria (HCY, cystathionine beta synthase)
Hyperphenylalaninemia (H-PHE)
Hypermethioninemia (MET)
Maple Syrup Urine Disease (MSUD, branched-chain ketoacid dehydrogenase)
Phenyleketonuria (PKU, phenylalanine hydroxylase)
Tyrosinemia type I (TYR-1, fumarylacetoacetate hydrolase)*
Tyrosinemia type II (TYR-II, tyrosine aminotransferase)
Tyrosinemia type III (TYR-III, hydroxyphenylpyruvate dioxygenase)

Fatty Acid Oxidation Disorders
Carnitine/acylcarnitine translocase defect (CACT)
Carnitine Uptake Deficiency (CUD, carnitine transport defect)*
Carnitine palmitoyl transferase deficiency I (CPT-1a)     
Carnitine palmitoyl transferase deficiency II (CPT-II)
Dienoyl-CoA reductase deficiency (DE-RED)
Glutaric acidemia type II (GA-II, multiple acyl-CoA dehydrogenase deficiency)
Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT)
Medium/Short chain L-3-hydroxy acyl-CoA dehydrogenase deficiency (M/SCHAD)
Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
Trifunctional Protein Deficiency (TFP)
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Organic Acid Disorders
2-Methyl-3-hydroxybutyric aciduria (2M3HBA)
2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG, SBCAD)
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG)
3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
3-Methylglutaconic aciduria (3MGA, Type I hydratase deficiency)
Beta Ketothiolase (BKT, mitrochondrial acetoacetyl-CoA thiolase,  short-chain ketoacylthiolase)
Glutaric acidemia, type I (GA-1, glutaryl-CoA dehydrogenase)
Isobutyryl-CoA dehydrogenase deficiency (IBG)
Isovaleric acidemia (IVA, Isovaleryl-CoA dehydrogenase)
Malonic acidemia (MAL, malonyl-CoA decarboxylase)
Methylmalonic Acidemia (Cbl A,B; vitamin B12 disorders)
Methylmalonic acidemia (CBL C,D)
Methylmalonic Acidemia (MUT, methylmalonyl CoA mutase)
Multiple Carboxylyse Deficiency (MCD, holocarboxylase synthetase)
Propionic acidemia (PROP, propionyl-CoA carboxylase)

*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.