Literature DB >> 15704202

Diagnosis of cystic fibrosis after newborn screening: the Australasian experience--twenty years and five million babies later: a consensus statement from the Australasian Paediatric Respiratory Group.

John Massie1, Barry Clements.   

Abstract

Newborn screening for cystic fibrosis has been used in Australia and New Zealand for over 20 years. In that time, considerable experience has been developed regarding the early diagnosis of cystic fibrosis after newborn screening. To date, there has not been a consensus on the process of screening and clinical evaluation leading to the diagnosis of cystic fibrosis in infants, many of whom are not symptomatic at time of notification of the screening result. The aim of this paper is to provide some consensus on the important issues of a cystic fibrosis diagnosis arising from newborn screening, based on the experience gained in Australia and New Zealand over the last 20 years. Copyright 2005 Wiley-Liss, Inc

Entities:  

Mesh:

Substances:

Year:  2005        PMID: 15704202     DOI: 10.1002/ppul.20191

Source DB:  PubMed          Journal:  Pediatr Pulmonol        ISSN: 1099-0496


  15 in total

Review 1.  Newborn screening for neuropathic lysosomal storage disorders.

Authors:  Wuh-Liang Hwu; Yin-Hsiu Chien; Ni-Chung Lee
Journal:  J Inherit Metab Dis       Date:  2010-06-08       Impact factor: 4.982

2.  Newborn screening.

Authors:  James J Pitt
Journal:  Clin Biochem Rev       Date:  2010-05

3.  The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era.

Authors:  Avantika Mishra; Ronda Greaves; John Massie
Journal:  Clin Biochem Rev       Date:  2005-11

4.  Australasian Guideline (2nd Edition): an Annex to the CLSI and UK Guidelines for the Performance of the Sweat Test for the Diagnosis of Cystic Fibrosis.

Authors:  John Massie; Ronda Greaves; Michael Metz; Veronica Wiley; Peter Graham; Samantha Shepherd; Richard Mackay
Journal:  Clin Biochem Rev       Date:  2017-11

5.  Factors accounting for a missed diagnosis of cystic fibrosis after newborn screening.

Authors:  Michael J Rock; Hara Levy; Christina Zaleski; Philip M Farrell
Journal:  Pediatr Pulmonol       Date:  2011-08-24

6.  One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland.

Authors:  Corina S Rueegg; Claudia E Kuehni; Sabina Gallati; Matthias Baumgartner; Toni Torresani; Juerg Barben
Journal:  Dtsch Arztebl Int       Date:  2013-05-17       Impact factor: 5.594

7.  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

Review 8.  Newborn screening for cystic fibrosis: a lesson in public health disparities.

Authors:  Lainie Friedman Ross
Journal:  J Pediatr       Date:  2008-09       Impact factor: 4.406

9.  Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening.

Authors:  Anita Gorrie; Alison D Archibald; Liane Ioannou; Lisette Curnow; Belinda McClaren
Journal:  J Community Genet       Date:  2017-10-02

10.  Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.

Authors:  Jenny L Kerschner; Sujana Ghosh; Alekh Paranjapye; Wilmel R Cosme; Marie-Pierre Audrézet; Miyuki Nakakuki; Hiroshi Ishiguro; Claude Férec; Johanna Rommens; Ann Harris
Journal:  J Mol Diagn       Date:  2018-10-05       Impact factor: 5.568

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.