II. Epidemiology

  1. Newborn Screening identifies significant conditions in 5000 to 6000 newborns per year in U.S.

III. Protocol: Testing

  1. Testing scope varies by state
    1. Universal Newborn Screening varies by U.S. state
      1. http://genes-r-us.uthscsa.edu/resources/consumer/statemap.htm
    2. Recommended Uniform Screening Panel (Standardized recommendations for U.S. State screening)
      1. https://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/
  2. Timing
    1. Before newborn hospital discharge (typically at 24-48 hours of life)
    2. Results are typically available within 24 hours
    3. Consider repeat testing at 1-6 weeks of life (routinely done in 14 states)
  3. Costs
    1. Most states have fee based testing (mean cost $76)
    2. Opt-Out policies are available for parents

IV. Labs: Standard Core Condition newborn metabolic screening

  1. Amino Acid disorder screening
    1. Homocystinuria (HCY)
    2. Maple syrup urine disease (MSUD)
    3. Classic Phenylketonuria (PKU)
    4. Tyrosinemia Type I (Tyr-1)
  2. Fatty Acid oxidation disorder screening
    1. Carnitine Uptake Defect or carnitine transport defect (CUD)
    2. Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
    3. Long-chain acyl-CoA dehydrogenase deficiency (LCHAD)
    4. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
    5. Trifunctional Protein deficiency (TFP)
  3. Organic acid disorder screening
    1. 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)
    2. Beta-ketothiolase deficiency (ßKT)
    3. Glutaric acidemia type I (GA1)
    4. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency or 3-Hydroxy-3-methyglutaric aciduria (HMG)
    5. Isovaleric acidemia (IVA)
    6. Holocarboxylase synthase deficiency or Multiple carboxylase deficiency (MCD)
    7. Propionic acidemia (PROP)
    8. Methylmalonic acidemia
      1. Methylmalonyl-CoA mutase (MUT)
      2. Cobalamin A and B defects (Cbl A, Cbl B)
  4. Urea Cycle Disorder Screening
    1. Argininosuccinic Acidemia or Aciduria (ASA)
    2. Citrullinemia Type 1 (CIT)
  5. Endocrine Disorder Screening
      1. Primary congenital Hypothyroidism (CH)
    1. Congenital Adrenal Hyperplasia (CAH)
  6. Hemoglobinopathy Screening
    1. Sickle Cell Anemia (Hb SS)
    2. S, ßeta-Thalassemia (Hb S/ßTh )
    3. S,C disease (Hb S/C)
  7. Other Screening
    1. See Newborn Hearing Screening
    2. Biotinidase deficiency (BIOT)
    3. Critical Congenital Heart Disease (CCHD)
    4. Cystic Fibrosis (CF)
      1. Based on Immunoreactive Trypsinogen (IRT) DNA
    5. Classic Galactosemia (GALT)
    6. Glycogen Storage Disease Type II or Pompe Disease (GSD II)
    7. Severe combined Immunodeficiencies (SCID)
    8. Mucopolysaccharidosis Type I (MPS I)
    9. X-linked Adrenoleukodystrophy (X-ALD)

V. Lab: Secondary Condition newborn metabolic screening

  1. An addition 26 or more conditions may be detected on Newborn Screening

VI. Interpretation

  1. False Positive tests are common (up to 60 False Positives for every true positive)
    1. Cut-off values are set low to prevent missing actual cases
  2. Borderline results should be immediately retested
  3. Positive results require immediate evaluation
    1. American College of Medical Genetics ACT sheets guide management (see below)

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Related Studies

Ontology: Neonatal Screening (C0027617)

Definition (MEDLINEPLUS)

Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include

  • Tests on a few drops of blood from pricking the baby's heel. The tests look for inherited disorders. All states test for at least 30 of these conditions.
  • A hearing test that measures the baby's response to sound
  • A skin test that measures the level of oxygen in the blood. This can tell if the baby has a congenital heart defect.

These tests look for serious medical conditions. If not treated, some of these conditions can cause lifelong health problems. Others can cause early death. With early diagnosis, treatment can begin right away, before serious problems can occur or become permanent.

If a screening shows that your baby might have a condition, the health care provider or the state health department will call you. It is important to follow up quickly. Further testing can verify whether your baby has the condition. If so, treatment should start right away.

NIH: National Institute of Child Health and Human Development

Definition (NCI) A specific type of newborn examination performed to allow for early detection of disease(s) and/or disorder(s).
Definition (MSH) The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
Concepts Diagnostic Procedure (T060)
MSH D015997
SnomedCT 60151004
English Infant, Newborn, Screening, Neonatal Screening, Neonatal Screenings, Newborn Infant Screening, Newborn Infant Screenings, Screening, Neonatal, Screening, Newborn Infant, Screenings, Neonatal, Screenings, Newborn Infant, Neonatal screen, newborn screen (lab test), newborn screen, Newborn Assessment, screening neonatal, neonatal screening, neonatal screen, Newborn Screening, Screening, Newborn, Neonatal screening, Neonatal screening (procedure), Neonatal screening, NOS, Neonatal screening test
Swedish Hälsoundersökning av nyfödda
Czech novorozenci - screening, novorozenci - depistáž
Spanish cribado neonatal (procedimiento), selección neonatal, detección selectiva neonatal, detección selectiva neonatal (procedimiento), rastreo neonatal, cribaje neonatal, pesquisa neonatal, cribado neonatal, Tamización del Recién Nacido, Tamización Neonatal, screening neonatal, tamizaje neonatal, Tamizaje Neonatal, Tamizaje del Recién Nacido
Finnish Vastasyntyneiden seulonta
French Dépistage chez le nouveau-né, Dépistage chez les nouveau-nés, Dépistage néonatal
Japanese 新生児スクリーニング, スクリーニング-新生児, 乳児新生児-スクリーニング
Polish Badania skriningowe noworodków, Badania przesiewowe noworodków, Skrining noworodkowy
Norwegian Undersøking av nyfødte
Portuguese Teste do Pezinho, Rastreamento Neonatal, Triagem Neonatal Universal, Triagem do Recém-Nascido, Triagem Neonatal
German Neugeborenen-Screening, Screening, Neugeborenen-
Italian Screening neonatale
Dutch Onderzoek van pasgeboren zuigelingen, Onderzoek van pasgeborenen, Zuigelingen, pasgeborenen, onderzoek