Undiagnosed and Rare Diseases in Perinatal Medicine: Lessons in Context and Cognitive Diagnostic Error. Clin Perinatol 2020 Mar;47(1):1-14
Date
02/01/2020Pubmed ID
32000918DOI
10.1016/j.clp.2019.10.002Scopus ID
2-s2.0-85076855404 (requires institutional sign-in at Scopus site) 5 CitationsAbstract
Critically ill neonates experience high rates of morbidity and mortality. Major diagnostic errors are identified in up to 20% of autopsied neonatal intensive care unit deaths. Neonates with undiagnosed or rare congenital disorders may mimic critically ill neonates with more common acquired conditions. The context of the diagnostic evaluation can introduce unique biases that increase the likelihood of diagnostic error. Herein is presented a framework for understanding diagnostic errors in perinatal medicine, and individual, team, and systems-based solutions for improving diagnosis learned through the implementation and administration of an undiagnosed and rare disease program.
Author List
Bordini BJ, Kliegman RM, Basel D, Nocton JJAuthors
Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of WisconsinBrett J. Bordini MD Associate Professor in the Pediatrics department at Medical College of Wisconsin
James J. Nocton MD Professor in the Pediatrics department at Medical College of Wisconsin
MESH terms used to index this publication - Major topics in bold
Diagnosis, DifferentialDiagnostic Errors
Humans
Infant, Newborn
Intensive Care Units, Neonatal
Neonatal Screening
Perinatology
Rare Diseases