Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Cystic fibrosis newborn screening: using experience to optimize the screening algorithm.

Literature DB >> 20521170

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

Jaime E Hale¹, Richard B Parad, Henry L Dorkin, Robert Gerstle, Allen Lapey, Brian P O'Sullivan, Terry Spencer, William Yee, Anne Marie Comeau.

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.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2010 PMID： 20521170 DOI： 10.1007/s10545-010-9117-3

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

8 in total

1. A public health response to emerging technology: expansion of the Massachusetts newborn screening program.

Authors: K Atkinson; B Zuckerman; J M Sharfstein; D Levin; R J Blatt; H K Koh
Journal: Public Health Rep Date: 2001 Mar-Apr Impact factor: 2.792

2. Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report.

Authors: Anne Marie Comeau; Frank J Accurso; Terry B White; Preston W Campbell; Gary Hoffman; Richard B Parad; Benjamin S Wilfond; Margaret Rosenfeld; Marci K Sontag; John Massie; Philip M Farrell; Brian P O'Sullivan
Journal: Pediatrics Date: 2007-02 Impact factor: 7.124

3. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.

Authors: Drucy Borowitz; Richard B Parad; Jack K Sharp; Kathryn A Sabadosa; Karen A Robinson; Michael J Rock; Philip M Farrell; Marci K Sontag; Margaret Rosenfeld; Stephanie D Davis; Bruce C Marshall; Frank J Accurso
Journal: J Pediatr Date: 2009-12 Impact factor: 4.406

Review 4. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs.

Authors: Scott D Grosse; Coleen A Boyle; Jeffrey R Botkin; Anne Marie Comeau; Martin Kharrazi; Margaret Rosenfeld; Benjamin S Wilfond
Journal: MMWR Recomm Rep Date: 2004-10-15

5. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.

Authors: Anne Marie Comeau; Richard B Parad; Henry L Dorkin; Mark Dovey; Robert Gerstle; Kenan Haver; Allen Lapey; Brian P O'Sullivan; David A Waltz; Robert G Zwerdling; Roger B Eaton
Journal: Pediatrics Date: 2004-06 Impact factor: 7.124

6. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.

Authors: Philip M Farrell; Beryl J Rosenstein; Terry B White; Frank J Accurso; Carlo Castellani; Garry R Cutting; Peter R Durie; Vicky A Legrys; John Massie; Richard B Parad; Michael J Rock; Preston W Campbell
Journal: J Pediatr Date: 2008-08 Impact factor: 4.406

7. Cystic fibrosis carrier screening: issues in implementation.

Authors: Michael S Watson; Robert J Desnick; Wayne W Grody; Michael T Mennuti; Bradley W Popovich; C Sue Richards
Journal: Genet Med Date: 2002 Nov-Dec Impact factor: 8.822

8. Newborn screening: toward a uniform screening panel and system.

Authors:
Journal: Genet Med Date: 2006-05 Impact factor: 8.822

8 in total

5 in total

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

1. A public health response to emerging technology: expansion of the Massachusetts newborn screening program.

2. Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report.

3. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.

Review 4. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs.

5. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.

6. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.

7. Cystic fibrosis carrier screening: issues in implementation.

8. Newborn screening: toward a uniform screening panel and system.

1. Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.

2. Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening.

3. Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process.

4. Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients.

5. Early diagnosis from newborn screening maximises survival in severe cystic fibrosis.