ABSTRACT
OBJECTIVE: Describe and define limitations of early pilocarpine iontophoresis (sweat testing) for cystic fibrosis (CF) newborn screening (NBS). STUDY DESIGN: Population-based results from follow-up of CF NBS-positive newborns. RESULTS: Insufficient quantity of sweat is more likely if the sweat test is done too early, but testing is generally successful after 2 weeks of age. Sweat chloride levels drop over the first weeks of life. CF carriers have higher sweat chloride concentrations than non-carriers. CONCLUSIONS: Sweat testing can be performed effectively after 2 weeks of age for CF NBS-positive newborns. Earlier testing has a higher risk of insufficient sweat for completing testing.
Subject(s)
Chlorides/analysis , Cystic Fibrosis/diagnosis , Iontophoresis/methods , Neonatal Screening/methods , Sweat/chemistry , Age Factors , Algorithms , Cystic Fibrosis/genetics , DNA Mutational Analysis , Decision Trees , Early Diagnosis , False Negative Reactions , False Positive Reactions , Follow-Up Studies , Humans , Infant, Newborn , Iontophoresis/standards , Linear Models , Massachusetts , Muscarinic Agonists , Neonatal Screening/standards , Patient Selection , Pilocarpine , Reference Values , Referral and Consultation , Risk FactorsABSTRACT
OBJECTIVE: To identify necessary components of a successful cystic fibrosis (CF) newborn screening (NBS) program. STUDY DESIGN: The approach to CF NBS used by the Massachusetts NBS program was examined. RESULTS: Several key components were identified that should be addressed when a state has made the decision to screen, and well in advance of actual implementation. These components include (1) inclusion of CF center directors in the development process; (2) logistics of choosing a screening algorithm relative to practices in place and community wishes; (3) projections of medical service needs from specific algorithms; (4) identification of critical reporting components; (5) identification of critical follow-up components; and (6) recognition of educational needs. CONCLUSIONS: Careful examination of a wide variety of issues is needed to ensure optimal implementation of NBS for CF.
Subject(s)
Cystic Fibrosis/diagnosis , Needs Assessment/organization & administration , Neonatal Screening/organization & administration , Program Development/methods , Aftercare/organization & administration , Algorithms , Attitude of Health Personnel , Attitude to Health , Decision Making, Organizational , Genetic Counseling/organization & administration , Health Knowledge, Attitudes, Practice , Humans , Infant, Newborn , Massachusetts , Models, Organizational , Neonatal Screening/psychology , Outcome Assessment, Health Care/organization & administration , Parents/education , Parents/psychology , Physician Executives/education , Physician Executives/organization & administration , Primary Health Care/organization & administration , Program Evaluation/methods , Sensitivity and Specificity , Social SupportABSTRACT
OBJECTIVE: To evaluate compliance with recommendations for sweat testing/specialty evaluation and genetic counseling after a positive cystic fibrosis newborn screening (CF NBS) result. STUDY DESIGN: All infants with positive CF NBS results require a diagnostic sweat test at a CF center. Results that were "screen positive and diagnosis negative" prompted family genetic counseling. Parent compliance with follow-up protocol recommendations was retrospectively analyzed relative to the communications model in place at a particular CF Center. RESULTS: At each of the 5 MA CF centers, 95% of the CF NBS-positive infants completed recommended sweat testing. In contrast, there was wide disparity in compliance (32%-90%) with completion of genetic counseling between CF centers. CONCLUSION: CF centers that escorted parents through the 2 recommended follow-up steps in 1 day had higher compliance with the second step (genetic counseling) than centers that required a return visit for genetic counseling.