In Illinois, newborn screening (NBS) for sickle cell disease (SCD) began in 1989 and for cystic fibrosis (CF) in 2008. We measured pediatricians' knowledge and attitudes regarding CF and SCD, the significance of carrier status, and NBS methodologies. Of 730 eligible Illinois pediatricians randomly selected from the American Academy of Pediatrics Web-based directory, 391 (54%) fully or partially completed the survey. Approximately three-fifths were women, two-thirds were Caucasians, and one-quarter had specialty training. Ninety-seven percent (377/390) and 93% (364/391) of respondents have at one point cared for a patient with SCD and CF, respectively, and virtually all support NBS for SCD (389/391, 99.5%) and CF (382/389, 98%). Overall mean knowledge of SCD (81.2%) and CF (84.5%) was high but did not correlate with self-reported familiarity. Questions regarding the interpretation of NBS results were less well understood, with 37% of our respondents unaware that Illinois NBS identifies all infants with sickle cell trait, and 28% unaware that Illinois NBS does not identify all infants who are CF carriers. Pediatricians support NBS but need additional education about the meaning of a positive and negative screen with respect to carrier detection to effectively counsel or appropriately refer. Copyright © 2011 by Thieme Medical Publishers, Inc.
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