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Variation in Cystic Fibrosis Newborn Screening Algorithms in the United States
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  • Clement Ren,
  • Maryann R. Rehani,
  • Mary S. Marcus,
  • Anne Bradford Harris,
  • Philip Farrell
Clement Ren
University of Pennsylvania Perelman School of Medicine

Corresponding Author:[email protected]

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Maryann R. Rehani
University of Wisconsin-Madison Waisman Center, The George Washington University
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Mary S. Marcus
University of Wisconsin-Madison Waisman Center
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Anne Bradford Harris
University of Wisconsin-Madison Waisman Center
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Philip Farrell
University of Wisconsin-Madison School of Medicine and Public Health
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Rationale: Cystic Fibrosis (CF) newborn screening (NBS) algorithms in the USA vary by state. Differences in CF NBS algorithms could potentially affect the detection rate of CF newborns and lead to disparities in CF diagnosis amongst different racial and ethnic groups. Objectives: Generate a database of CF NBS algorithms in the USA and identify processes that may potentially lead to missed diagnoses or lead to health care disparities. Methods: We sent an online survey to state and regional CF and NBS leaders about the type and threshold of immunoreactive trypsinogen (IRT) cutoff used and methods used for CFTR gene variant analysis. Follow-up by email and phone was done to ensure a response from every state, clarify responses, and resolve discordances . Results: There was wide variation in the NBS algorithms employed by different states. Approximately half the states use a floating IRT cutoff and half use a fixed IRT cutoff. CFTR variant analysis also varied widely, with 2 states analyzing only for the F508del variant and 4 states incorporating CFTR gene sequencing. The other states used CFTR variant panels ranging from 23 to 365 CFTR variants. Conclusions: CF NBS algorithms vary widely amongst the different states in the USA, which affects the ability of CF NBS to diagnose newborn infants with CF consistently and uniformly across the country and potentially may miss more infants with CF from minority populations. Our results identify an important area for quality improvement in CF NBS.
12 Aug 2022Submitted to Pediatric Pulmonology
12 Aug 2022Submission Checks Completed
12 Aug 2022Assigned to Editor
13 Aug 2022Reviewer(s) Assigned
01 Sep 2022Review(s) Completed, Editorial Evaluation Pending
02 Sep 2022Editorial Decision: Revise Major
01 Nov 20221st Revision Received
07 Nov 2022Submission Checks Completed
07 Nov 2022Assigned to Editor
07 Nov 2022Review(s) Completed, Editorial Evaluation Pending
07 Nov 2022Reviewer(s) Assigned
09 Dec 2022Editorial Decision: Accept