Identification of Primary Congenital Hypothyroidism Based on Two Newborn Screens - Utah, 2010-2016

MMWR Morb Mortal Wkly Rep. 2018 Jul 20;67(28):782-785. doi: 10.15585/mmwr.mm6728a4.

Abstract

Newborn screening for primary congenital hypothyroidism is part of the U.S. Recommended Uniform Screening Panel (1,2). Untreated congenital hypothyroidism can result in cognitive impairment and growth complications (decreased height/length). Initial newborn screening for congenital hypothyroidism is typically performed 24-48 hours after birth. Fourteen states, including Utah, perform a routine second screen at approximately 2 weeks of age.* During 2010-2016, a total of 359,432 infants in Utah were screened for congenital hypothyroidism, and 130 cases were diagnosed; among these, 98 had an abnormal first screen, and 25 had an abnormal second screen (seven infants were excluded because of missing data). A retrospective examination of Utah's screening data indicated that 20% of congenital hypothyroidism cases could not have been efficiently identified by a single screen alone. This study highlights the utility of a two-screen process and demonstrates that differential cutoff values for the first and second screens could optimize both screening sensitivity and specificity.

MeSH terms

  • Congenital Hypothyroidism / diagnosis*
  • Congenital Hypothyroidism / epidemiology
  • Humans
  • Infant, Newborn
  • Neonatal Screening / methods*
  • Retrospective Studies
  • Sensitivity and Specificity
  • Utah / epidemiology