title: Single newborn screen or routine second screening for primary congenital hypothyroidism.
abstract: Routine second screening of most newborns at 8-14 days of life for a panel of newborn conditions occurs in 12 U.S. states, while newborns in the other states typically undergo only a single routine newborn screen. The study objective was to evaluate screening consequences for primary congenital hypothyroidism (CH) in one- and two-screen states according to laboratory practices and medical or biochemical characteristics of screen-positive cases. Individual-level medical and biochemical data were retrospectively collected and analyzed for 2251 primary CH cases in one-screen (CA, WI) and two-screen (AL, DE, MD, OR, TX) states. Aggregate data were collected and analyzed for medical and biochemical characteristics of all screened newborns in the states. Among the states evaluated in this study, the detection rate of primary CH was higher in the one-screen states. In the two-screen states, 11.5% of cases were detected on the second screen. In multivariate analyses, only race/ethnicity was a significant predictor of cases identified on the first versus second screen, which likely reflects a physiologic difference in primary CH presentation. Newborn screening programs must heed the potential for newborns with CH not being detected by a single screen, particularly newborns of certain races/ethnicities. If the two-screen states converted to a single screen using their current algorithms, newborns currently identified on the routine second screen would presumably not be detected, resulting in probable delayed diagnosis and treatment. However, based on the one-screen state experiences, with appropriate modifications in screening method and algorithm, the two-screen states might convert to single screen operation for CH without loss in performance.
authors: National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA. Electronic address: sshapira@cdc.gov.
authors: Stuart K
authors: SK
authors: Shapira
authors: National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.
authors: Cynthia F
authors: CF
authors: Hinton
authors: Wisconsin State Laboratory of Hygiene, University of Wisconsin, Madison, WI, USA.
authors: Patrice K
authors: PK
authors: Held
authors: Newborn Screening and Genetics Program, Association of Public Health Laboratories, Silver Spring, MD, USA.
authors: Elizabeth
authors: E
authors: Jones
authors: Division of Laboratory Sciences, Centers for Disease Control and Prevention (retired), Atlanta, GA, USA.
authors: W
authors: W
authors: Harry Hannon
authors: Newborn Screening and Genetics Program, Association of Public Health Laboratories, Silver Spring, MD, USA.
authors: Jelili
authors: J
authors: Ojodu
mesh_terms: D000465:Algorithms; D003409:Congenital Hypothyroidism / Q000175:diagnosis* / Q000453:epidemiology* / Q000208:ethnology; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D012189:Retrospective Studies; D014481:United States / Q000453:epidemiology
keywords: Newborn screening; Primary congenital hypothyroidism; Race and ethnicity; Routine second screen