Cystic fibrosis newborn screening: using experience to optimize the screening algorithm.
Newborn screening (NBS) for cystic fibrosis (CF) offers the opportunity for early diagnosis and improved outcomes in patients with CF and has been universally available in the state of Massachusetts since 1999 using an immunoreactive trypsinogen (IRT)-DNA algorithm. Ideally, CF NBS is incorporated as part of an integrated NBS system that allows for comprehensive and coordinated education, laboratory screening, clinical follow-up, and evaluation so that evidence-based data can be used to maximize quality improvements and optimize the screening algorithm. The New England Newborn Screening Program (NENSP) retrospectively analyzed Massachusetts's CF newborn screening data that yielded decisions to eliminate a screen-positive category, maintain the IRT cutoff value that prompts the second tier DNA testing, and communicate CF relative risk to primary care providers (PCPs) based on categorization of positive CF NBS results.
Hale
Jaime E
JE
New England Newborn Screening Program, UMass Medical School, Jamaica Plain, MA 02130, USA.
Parad
Richard B
RB
Dorkin
Henry L
HL
Gerstle
Robert
R
Lapey
Allen
A
O'Sullivan
Brian P
BP
Spencer
Terry
T
Yee
William
W
Comeau
Anne Marie
AM
D000465:Algorithms; D015415:Biomarkers / Q000097:blood; D002712:Chlorides / Q000032:analysis; D003550:Cystic Fibrosis / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D005820:Genetic Testing; D006801:Humans; D007118:Immunoassay; D007231:Infant, Newborn; D008404:Massachusetts; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods; D011237:Predictive Value of Tests; D011320:Primary Health Care; D016730:Program Development; D015397:Program Evaluation; D019984:Quality Indicators, Health Care; D012189:Retrospective Studies; D013542:Sweat / Q000737:chemistry; D014362:Trypsinogen / Q000097:blood
D015415:Biomarkers; C505032:CFTR protein, human; D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen