II. Epidemiology
- Newborn Screening identifies significant conditions in 5000 to 6000 newborns per year in U.S.
III. Protocol: Testing
- Testing scope varies by state
- Universal Newborn Screening varies by U.S. state
- Recommended Uniform Screening Panel (Standardized recommendations for U.S. State screening)
- Timing
- Before newborn hospital discharge (typically at 24-48 hours of life)
- Results are typically available within 24 hours
- Consider repeat testing at 1-6 weeks of life (routinely done in 14 states)
- Costs
- Most states have fee based testing (mean cost $76)
- Opt-Out policies are available for parents
IV. Labs: Standard Core Condition newborn metabolic screening
-
Amino Acid disorder screening
- Homocystinuria (HCY)
- Maple syrup urine disease (MSUD)
- Classic Phenylketonuria (PKU)
- Tyrosinemia Type I (Tyr-1)
-
Fatty Acid oxidation disorder screening
- Carnitine Uptake Defect or carnitine transport defect (CUD)
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Long-chain acyl-CoA dehydrogenase deficiency (LCHAD)
- Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
- Trifunctional Protein deficiency (TFP)
- Organic acid disorder screening
- 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)
- Beta-ketothiolase deficiency (ßKT)
- Glutaric acidemia type I (GA1)
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency or 3-Hydroxy-3-methyglutaric aciduria (HMG)
- Isovaleric acidemia (IVA)
- Holocarboxylase synthase deficiency or Multiple carboxylase deficiency (MCD)
- Propionic acidemia (PROP)
- Methylmalonic acidemia
- Methylmalonyl-CoA mutase (MUT)
- Cobalamin A and B defects (Cbl A, Cbl B)
- Urea Cycle Disorder Screening
- Argininosuccinic Acidemia or Aciduria (ASA)
- Citrullinemia Type 1 (CIT)
- Endocrine Disorder Screening
- Primary Congenital Hypothyroidism (CH)
- Congenital Adrenal Hyperplasia (CAH)
-
Hemoglobinopathy Screening
- Sickle Cell Anemia (Hb SS)
- S, ßeta-Thalassemia (Hb S/ßTh )
- S,C disease (Hb S/C)
- Other Screening
- See Newborn Hearing Screening
- Biotinidase deficiency (BIOT)
- Critical Congenital Heart Disease (CCHD)
- Cystic Fibrosis (CF)
- Based on Immunoreactive Trypsinogen (IRT) DNA
- Classic Galactosemia (GALT)
- Glycogen Storage Disease Type II or Pompe Disease (GSD II)
- Severe combined Immunodeficiencies (SCID)
- Mucopolysaccharidosis Type I (MPS I)
- X-linked Adrenoleukodystrophy (X-ALD)
V. Lab: Secondary Condition newborn metabolic screening
- An addition 26 or more conditions may be detected on Newborn Screening
VI. Interpretation
-
False Positive tests are common (up to 60 False Positives for every true positive)
- Cut-off values are set low to prevent missing actual cases
- Borderline results should be immediately retested
- Positive results require immediate evaluation
- American College of Medical Genetics ACT sheets guide management (see below)
VII. Resources
- American College of Medical Genetics ACT sheets
- Professional Resources (National Newborn Screening and Global Resource Center)
- HRSA Advisory Committee on Heritable Disorders in Newborns and Children
- Newborn Screening Fact Sheets (AAP)
- Acute Illness protocols (New England Consortium of Metabolic Programs)