Newborn Screening Best Practices

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BEST PRACTICES: NEWBORN SCREENING

Topic Overview

Newborn screening refers to testing newborn babies for medical conditions before they leave the hospital. These conditions typically present no symptoms in newborns, but can cause severe illness, mental retardation, developmental delays, and in some cases death, if not found and treated early in life. All states and many foreign countries screen newborns for a variety of conditions. In Colorado, babies are screened for the following 29 conditions:

Endocrine Disorders

Congenital adrenal hyperplasia (CAH)
Congenital hypothyroidism (CH)

Genetic Disorders

Cystic fibrosis (CF)
Hearing (HEAR) this screen is not a metabolic/bloodspot screen

Hemoglobinopathies

β-thalassemia (Hb S/βTh)
Sickle cell anemia (Hb SS)
Hemoglobin SC disease (Hb SC)

Metabolic

Biotinidase deficiency (BIOT)
Galactosemia (GALT)

Amino Acid Disorders (AA)

Argininosuccinic acidemia (ASA)
Citrullinemia (CIT)
Homocystinuria (HCY)
Maple syrup urine disease (MSUD)
Phenylketonuria (PKU)
Tyrosinemia (TYR I)

Fatty Acid Oxidation Disorders (FAO)

Carnitine uptake defect (CUD)
Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHAD)
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
Trifunctional protein deficiency (TFP)
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Organic Acid Disorders (OA)

3-Hydroxy 3-methyl glutaric aciduria (HMG)
3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)
β-Ketothiolase deficiency (BKT)
Glutaric acidemia type 1 (GA1)
Isovaleric acidemia (IVA)
Methylmalonic acidemia - mutase deficiency (MUT)
Methylmalonic acidemia (Cbl A,B)
Multiple carboxylase deficiency (MCD)
Propionic acidemia (PROP)

Babies with the above conditions appear normal at birth. Early diagnosis and treatment can result in normal growth and development and prevent or reduce the severity of serious medical problems associated with these conditions.

Nearly 70,000 Colorado newborns are screened each year. Approximately 2,200 babies each year have a positive screening test in Colorado. A positive screen does not necessarily mean that a child has one of these conditions, but it means that the child may be at risk for the condition and needs further testing.

Colorado will expand its newborn screening panel to include more than 30 disorders in July 2006 using new technology called tandem mass spectrometry.

Recommended Strategies

Colorado Infant Hearing Advisory Committee Guidelines for Infant Hearing Screening, Audiologic Assessment, and Intervention - December 2000
Colorado Department of Health and Environment
Newborn Screening for Congenital Hypothyroidism: Recommended Guidelines
(RE9316) - June 1993
American Academy of Pediatrics
National Newborn Screening and Genetics Resource Center
Principles of Screening: Report of The Subcommittee on Screening of the American College of Medical Genetics Practice Committee
Tandem mass spectrometry in newborn screening American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee Working Group
My Baby's Hearing