II. Protocol: Testing

  1. Testing scope varies by state
    1. Universal U.S. screening includes all labs below except for states listed below
    2. States with limited screening: AL, AR, KS, NH, OK, PA, WA, WV
    3. States doing all labs except listed: NE (CUD), NC (CUD, TYR-1), OH/TN (TYR-1)
  2. Timing
    1. Before newborn hospital discharge
    2. Consider repeat testing at 1-6 weeks of life (routinely done in 14 states)

III. Labs: Standard newborn metabolic screening

  1. Amino acid and urea cycle disorder screening
    1. Argininosuccinic Acidemia
    2. Citrullinemia
    3. Homocystinuria
    4. Maple syrup urine disease
    5. Phenylketonuria (PKU)
    6. Tyrosinemia Type I (Tyr-1)
  2. Fatty Acid oxidation disorder screening
    1. Carnitine Uptake Defect (CUD)
    2. Long-chain acyl-CoA dehydrogenase deficiency
    3. Medium-chain acyl-CoA dehydrogenase deficiency
    4. Trifunctional protein deficiency
    5. Very long-chain acyl-CoA dehydrogenase deficiency
  3. Organic acid disorder screening
    1. 3-methylcrotonyl-CoA carboxylase deficiency
    2. Beta-ketothiolase deficiency
    3. Cobalamin A and B defects
    4. Glutaric acidemia type I
    5. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
    6. Isovaleric acidemia
    7. Multiple carboxylase deficiency
    8. Methylmalonic acidemia
    9. Propionic acidemia
  4. Hematologic and Endocrine Disorders
    1. Hemoglobinopathy (Obtain prior to transfusion)
    2. Congenital Hypothyroidism
    3. Adrenal Hyperplasia
    4. Galactosemia
    5. Biotinidase deficiency
    6. Cystic Fibrosis
      1. Based on Immunoreactive Trypsinogen (IRT) DNA
      2. CDC recommends adding this to Newborn Screening
      3. Neff (2005) Am Fam Physician 71:1605-10 [PubMed]

IV. 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)

V. Resources

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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
Russian NOVOROZHDENNYI, SKRINING, SKRINING NOVOROZHDENNYKH, NOVOROZHDENNYKH SKRINING, НОВОРОЖДЕННЫЙ, СКРИНИНГ, НОВОРОЖДЕННЫХ СКРИНИНГ, СКРИНИНГ НОВОРОЖДЕННЫХ
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
Croatian NOVOROĐENČE, SISTEMATSKI PREGLEDI
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