Birth prevalence rates of newborn screening disorders in relation to screening practices in the United States

Vicki S. Hertzberg, Cynthia F. Hinton, Bradford L. Therrell, Stuart K. Shapira

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Objective: To examine the associations between the first-tier-screening laboratory methods and criteria and the birth prevalence of congenital adrenal hyperplasia (CAH), phenylketonuria (PKU), and the sickle hemoglobinopathies occurring in the United States between 1991 and 2000. Study design: By using validated data from the National Newborn Screening and Genetics Resource Center, we fit Poisson regression models with laboratory methods and criteria used in every year for each state for each disorder. We also examined whether there was an overall change in birth prevalence over the decade and whether there was an effect resulting from obligatory second screenings. Results: There were no associations among any of the factors and the birth prevalence of PKU in this decade. Use of the enzyme-linked immunosorbent assay was more likely than any other laboratory method to identify cases of CAH (OR 1.16; 95% CI 1.04-1.30), but no other factors were associated with this disorder. None of the factors examined were associated with the birth prevalence rates of any of the sickle hemoglobinopathies. Conclusion: There were no substantial changes in the birth prevalence rates of PKU, CAH, or the sickle hemoglobinopathies over the study period despite rapid changes in technology.

Original languageEnglish (US)
Pages (from-to)555-560
Number of pages6
JournalJournal of Pediatrics
Issue number4
StatePublished - Oct 1 2011
Externally publishedYes


  • 17-hydroxyprogesterone
  • 17-OHP
  • Bacterial inhibition assay
  • BIA
  • CAH
  • CC
  • CH
  • Congenital adrenal hyperplasia
  • EIA
  • Enzyme-linked immunosorbent assay
  • FIA
  • Fluoroimmunoassay
  • Health Resources and Services Administration
  • Hemoglobin C mutation
  • High performance liquid chromatography
  • HPLC
  • HRSA
  • IEF
  • Isoelectric focusing
  • MS/MS
  • National Newborn Screening and Genetics Resource Center
  • NBS
  • Newborn screening
  • PAH
  • Phenylalanine hydroxylase
  • Phenylketonuria
  • PKU
  • Primary congenital hypothyroidism
  • Radioimmunoassay
  • RIA
  • S
  • SCD
  • SCD-Sβ
  • SCD-SC
  • SCD-SE
  • SCD-SS
  • Sickle cell anemia
  • Sickle cell C mutation
  • Sickle cell disease
  • Sickle cell E mutation
  • Sickle cell thalassemia mutation
  • Sickle mutation
  • T4
  • Tandem mass spectrometry
  • Thyrotropin
  • Thyroxine
  • TSH

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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