sábado, 12 de junio de 2010

Cystic fibrosis newborn screening: using experienc... [J Inherit Metab Dis. 2010] - PubMed result



J Inherit Metab Dis. 2010 Jun 3. [Epub ahead of print]

Cystic fibrosis newborn screening: using experience to optimize the screening algorithm.
Hale JE, Parad RB, Dorkin HL, Gerstle R, Lapey A, O'Sullivan BP, Spencer T, Yee W, Comeau AM.

New England Newborn Screening Program, UMass Medical School, 305 South Street, Jamaica Plain, MA, 02130, USA.


Abstract
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.

PMID: 20521170 [PubMed - as supplied by publisher]
Cystic fibrosis newborn screening: using experienc... [J Inherit Metab Dis. 2010] - PubMed result

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