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Pediatr Pulmonol. 2011 Dec;46(12):1166-74. doi: 10.1002/ppul.21509. Epub 2011 Aug 24.

Factors accounting for a missed diagnosis of cystic fibrosis after newborn screening.

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  • 1School of Medicine and Public Health, University of Wisconsin-Madison, Madison, Wisconsin 53792, USA.


Newborn screening is a public health policy program involving the centralized testing laboratory, infant and their family, primary care provider, and subspecialist for confirmatory testing and follow-up of abnormal results. Cystic fibrosis (CF) newborn screening has now been enacted in all 50 states and the District of Columbia and throughout many countries in the world. Although CF neonatal screening will identify the vast majority of infants with CF, there are many factors in the newborn screening system that can lead to a missed diagnosis of CF. To inform clinicians, this article summarizes the CF newborn screening system and highlights 14 factors that can account for a missed diagnosis of CF. Care providers should maintain a high suspicion for CF if there are compatible symptoms, regardless of the results of the newborn screening test. These factors in newborn screening programs leading to a missed diagnosis of CF present opportunities for quality improvement in specimen collection, laboratory analysis of immunoreactive tryspinogen (IRT) and CF mutation testing, communication, and sweat testing.

Copyright © 2011 Wiley Periodicals, Inc.

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