Neonatology Book

Birth Disorders

  • Newborn Screen

Miscellaneous

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Newborn ScreenAka: Newborn Screening

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  1. See Also
    1. Inborn Errors of Metabolism
  2. 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)
  3. 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
  4. 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)
  5. Resources
    1. American College of Medical Genetics ACT sheets
      1. http://www.acmg.net/resources/policies/ACT/condition-analyte-links.htm
    2. New England Consortium of Metabolic Programs NBS protocols
      1. http://www.childrenshospital.org/newenglandconsortium/NBS/NBS_Protocols.html
  6. References
    1. (2006) Genet Med 8:1S
    2. Kaye (2006) Pediatrics 118:e934
    3. Waisbren (2008) Am Fam Physician 77:987

Neonatal Screening (C0027617)

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.
ConceptsHealth Care Activity (T058)
EnglishNeonatal Screening, Neonatal screening test, Neonatal Screenings, Newborn Infant Screening, Newborn Infant Screenings, Newborn Screening
Spanishcribado neonatal, deteccion selectiva neonatal, screening neonatal, seleccion neonatal, tamizaje neonatal
Parent ConceptsMass Screening (C0024870), Laboratory Techniques and Procedures (C0600201), Screening procedure (C0220908), Biochemical test (C0430027)
SourcesMEDLINEPLUS, MSH, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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