Newborn Screening for Cystic Fibrosis
|Publication Date:||1 December 2019|
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 followup (STFU) and long-term follow-up (LTFU) considerations.
This guideline describes:
• Screening methodologies for immunoreactive trypsinogen (IRT), pancreatitis-associa
• 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
This guideline recommends the use of CFTR variant panels in CF NBS algorithms when resources allow. The intended users of this guideline are NBS laboratory, follow-up, and program personnel; public health program administrators; medical laboratories; CF center personnel and organizations responsible for CF center networks; health care providers (HCPs) (eg, primary care providers, neonatologists, pediatricians); regulatory agencies; public health policy makers; and manufacturers of instruments, reagents, and related products used for NBS testing.
Although the need for confirmatory diagnostic testing is discussed, this guideline describes only some of the issues regarding satisfactory sweat chloride testing. In addition, this guideline:
• Is not intended to provide details of confirmatory diagnostic laboratory testing
• Does not include comparative cost information
• Does not cover CF prenatal carrier screening or prenatal diagnosis