Newborn Screening


Critical Congenital Heart Disease

Beginning January 1, 2014, all babies born in Missouri will be screened for critical congenital heart disease. Critical congenital heart disease (CCHD) is the name given to specific congenital heart defects. These defects in the heart occur before birth, cause blood to flow in an abnormal pattern, and may lead to blockage of blood flow throughout the body. If left untreated, these defects can lead to death or can cause serious developmental delay.

Pulse oximetry screening is most likely to detect seven specific CCHDs. These include:

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 Jan. 15, 2013, Missouri's Newborn Screening Program screens newborns for the following disorders:

Biotinidase Deficiency (BIOT)
Classical Galactosemia (GALT)
Congenital Adrenal Hyperplasia (CAH)
Congenital Primary Hypothyroidism (CH)
Cystic Fibrosis (CF)

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 Disorders

Carnitine acylcarnitine translocase deficiency (CACT)
Carnitine Uptake Defect (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)
3-Hydroxy-3-Methylglutaric-CoA Lyase Deficiency (HMG, 3-Hydrox 3-methylglutaryl-CoA lyase)
3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
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 Co-A mutase)
Multiple Carboxylyse Deficiency (MCD, holocarboxylase synthetase)
Propionic acidemia (PROP, propionyl-CoA carboxylase)

Sickle Cell Disease (Hb S/S)
Sickle hemoglobin-C disease (Hb S/C)
Sickle beta zero thalassemia disease
Sickle beta plus thalassemia disease
Sickle hemoglobin-D disease
Sickle hemoglobin-E disease
Sickle hemoglobin-O-Arab disease
Sickle hemoglobin Lepore Boston disease
Sickle HPFH disorder
Sickle "Unidentified"
Hemoglobin-C beta zero thalassemia disease
Hemoglobin-C beta plus thalassemia disease
Hemoglobin-E beta zero thalassemia disease
Hemoglobin-E beta plus thalassemia disease
Hemoglobin-H disease
Homozygous beta zero thalassemia disease
Homozygous-C disease
Homozygous-E disorder
Double heterozygous beta thalassemia disease

Lysosomal Storage Disorders

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

**Currently conducting statewide pilot/implementation testing.

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.