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Cystic fibrosis newborn screening: using experience to optimize the screening algorithm.

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.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Hale JE,Parad RB,Dorkin HL,Gerstle R,Lapey A,O'Sullivan BP,Spencer T,Yee W,Comeau AM

doi

10.1007/s10545-010-9117-3

subject

Has Abstract

pub_date

2010-10-01 00:00:00

pages

S255-61

issue

Suppl 2

eissn

0141-8955

issn

1573-2665

journal_volume

33

pub_type

杂志文章

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