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CLSI Publishes Newborn Screening Document NBS05—Newborn Screening for Cystic Fibrosis, 2nd Edition


CLSI Publishes Newborn Screening Document NBS05—Newborn Screening for Cystic Fibrosis, 2nd Edition

Wayne, Pennsylvania, USAThe Clinical and Laboratory Standards Institute (CLSI) has published the second edition of NBS05—Newborn Screening for Cystic Fibrosis. NBS05 describes newborn screening (NBS) laboratory tests and screening strategies used worldwide to identify newborns at increased risk of developing cystic fibrosis (CF).

This guideline describes newborn dried blood spot screening algorithms for CF using immunoreactive trypsinogen (IRT) assays alone or, most commonly, in combination with second-tier DNA testing for detecting specific cystic fibrosis transmembrane conductance regulator (CFTR) variants. CF NBS algorithms are among the first NBS models incorporating DNA technologies. Variations in the IRT/DNA method, including the use of pancreatitis-associated protein (PAP) testing after IRT testing, are also summarized with explanations of their advantages and disadvantages.

This guideline specifies recommendations for newborn screening (NBS) for cystic fibrosis (CF) and routine use of dried blood spot (DBS) specimens for identifying potentially affected newborns. This guideline also discusses the preanalytical, analytical, and postanalytical activities of CF NBS, including short-term follow-up and long-term follow-up considerations. This guideline describes:

  • Screening methodologies for IRT, PAP, and CFTR gene variant analysis
  • Screening algorithms currently used, including the use of IRT assays alone or in combination with DNA analysis for detecting specific CFTR variants through second-tier NBS with the IRT/DNA strategy
  • Variations in the IRT/DNA strategy, including the use of PAP testing after IRT testing, with explanations of their advantages and disadvantages
  • Selecting CFTR variant panels that enable equal detection of CF in all populations within the screening jurisdiction
  • Reporting results
  • Roles and responsibilities during STFU through diagnosis

For more information about NBS05, contact Patrick McGinn at pmcginn@clsi.org or +1.484.588.5933.    

CLSI sets the standard for quality in medical laboratory testing. A not-for-profit membership organization, CLSI brings together the global laboratory community for the advancement of a common cause: to foster excellence in laboratory medicine.    

For over 50 years, our members, volunteers, and customers have made CLSI a respected, transformative leader in the development and implementation of medical laboratory testing standards. Through our unified efforts, we will continue to set and uphold the standards that drive quality test results, enhance patient care delivery, and improve health care around the world.    

By using CLSI standards, laboratorians can improve process quality, speed the development of standard operating procedures, and implement safer practices with greater ease and efficiency.


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