Undiagnosed and Rare Diseases in Perinatal Medicine: Lessons in Context and Cognitive Diagnostic Error.

Autor:	Bordini BJ; Department of Pediatrics, Section of Hospital Medicine, Nelson Service for Undiagnosed and Rare Diseases, Children's Hospital of Wisconsin, Medical College of Wisconsin, 999 North 92nd Street, Suite C560, Milwaukee, WI 53226, USA. Electronic address: bbordini@mcw.edu., Kliegman RM; Department of Pediatrics, Nelson Service for Undiagnosed and Rare Diseases, Children's Hospital of Wisconsin, Medical College of Wisconsin, 999 North 92nd Street, Suite C560, Milwaukee, WI 53226, USA., Basel D; Department of Pediatrics, Nelson Service for Undiagnosed and Rare Diseases, Children's Hospital of Wisconsin, Medical College of Wisconsin, 999 North 92nd Street, Suite C560, Milwaukee, WI 53226, USA., Nocton JJ; Department of Pediatrics, Section of Rheumatology, Nelson Service for Undiagnosed and Rare Diseases, Children's Hospital of Wisconsin, Medical College of Wisconsin, 999 North 92nd Street, Suite C465, Milwaukee, WI 53226, USA.
Jazyk:	angličtina
Zdroj:	Clinics in perinatology [Clin Perinatol] 2020 Mar; Vol. 47 (1), pp. 1-14. Date of Electronic Publication: 2019 Oct 07.
DOI:	10.1016/j.clp.2019.10.002
Abstrakt:	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. Competing Interests: Disclosure statement The authors have nothing to disclose. (Copyright © 2019 Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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