Literature DB >> 15906698

Newborn screening in Australia and New Zealand.

Dianne Webster1.   

Abstract

Newborn screening began in Australia and New Zealand in the mid-1960's as local and pilot programs and implemented as country or state-wide programs around 1970. There are five programs covering all Australia and one for New Zealand. All screening programs are fully government funded, as is treatment for the conditions found by the screening programs and newborn screening is a universally adopted policy funded by the government. Some have additional involvement in program advisory committees. There are no major problems sustaining existing screening, however, some programs have financial problems with funding for new equipment. Other problems include storage and other uses of residual dried blood samples; consent issues; protocols for action after screening and introduction of expanded (tandem mass spectrometry) screening. New activities vary from program to program--working towards expanded newborn screening and collaborative projects for the evaluation of this screening and development of screening for lysosomal storage disorders. All programs are working towards automation of punching and testing and increased automated data handling and reporting.

Entities:  

Mesh:

Year:  2003        PMID: 15906698

Source DB:  PubMed          Journal:  Southeast Asian J Trop Med Public Health        ISSN: 0125-1562            Impact factor:   0.267


  6 in total

1.  Robustness of genome-wide scanning using archived dried blood spot samples as a DNA source.

Authors:  Mads V Hollegaard; Jakob Grove; Jonas Grauholm; Eskil Kreiner-Møller; Klaus Bønnelykke; Mette Nørgaard; Thomas L Benfield; Bent Nørgaard-Pedersen; Preben B Mortensen; Ole Mors; Henrik T Sørensen; Zitta B Harboe; Anders D Børglum; Ditte Demontis; Torben F Ørntoft; Hans Bisgaard; David M Hougaard
Journal:  BMC Genet       Date:  2011-07-04       Impact factor: 2.797

2.  Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis.

Authors:  Bo G Winkel; Mads V Hollegaard; Morten S Olesen; Jesper H Svendsen; Stig Haunsø; David M Hougaard; Jacob Tfelt-Hansen
Journal:  BMC Med Genet       Date:  2011-02-09       Impact factor: 2.103

3.  High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.

Authors:  Jesper Buchhave Poulsen; Francesco Lescai; Jakob Grove; Marie Bækvad-Hansen; Michael Christiansen; Christian Munch Hagen; Julian Maller; Christine Stevens; Shenting Li; Qibin Li; Jihua Sun; Jun Wang; Merete Nordentoft; Thomas Mears Werge; Preben Bo Mortensen; Anders Dupont Børglum; Mark Daly; David Michael Hougaard; Jonas Bybjerg-Grauholm; Mads Vilhelm Hollegaard
Journal:  PLoS One       Date:  2016-04-18       Impact factor: 3.240

4.  Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Authors:  Ting Wang; Jun Ma; Qin Zhang; Ang Gao; Qi Wang; Hong Li; Jingjing Xiang; Benjing Wang
Journal:  Front Genet       Date:  2019-10-29       Impact factor: 4.599

5.  Genome-wide scans using archived neonatal dried blood spot samples.

Authors:  Mads V Hollegaard; Jonas Grauholm; Anders Børglum; Mette Nyegaard; Bent Nørgaard-Pedersen; Torben Ørntoft; Preben B Mortensen; Carsten Wiuf; Ole Mors; Michael Didriksen; Poul Thorsen; David M Hougaard
Journal:  BMC Genomics       Date:  2009-07-04       Impact factor: 3.969

6.  Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China.

Authors:  Xiangchun Yang; Qiong Li; Fei Wang; Lulu Yan; Danyan Zhuang; Haiyan Qiu; Haibo Li; Liang Chen
Journal:  Front Genet       Date:  2021-06-24       Impact factor: 4.599

  6 in total

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