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Undiagnosed and Rare Diseases in Perinatal Medicine: Lessons in Context and Cognitive Diagnostic Error. Clin Perinatol 2020 Mar;47(1):1-14

Date

02/01/2020

Pubmed ID

32000918

DOI

10.1016/j.clp.2019.10.002

Scopus ID

2-s2.0-85076855404 (requires institutional sign-in at Scopus site)   5 Citations

Abstract

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 JJ

Authors

Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of Wisconsin
Brett 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, Differential
Diagnostic Errors
Humans
Infant, Newborn
Intensive Care Units, Neonatal
Neonatal Screening
Perinatology
Rare Diseases