Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result.

Journal of Inherited Metabolic Disease
J Gerard LoeberLuciano Vittozzi

Abstract

In many European countries neonatal screening has been introduced over the last 50 years as an important public health programme. Depending on health care structure, available funds, local politics, input from professional groups, parent groups, and the general public this introduction has led to different approaches in the way the screening programmes have been set up, financed and governed. To get some insight about the current situation, in 2009 the European Union, via its EAHC agency, put out a call for a tender that was acquired by our project group. An online survey was compiled in which the whole screening programme was covered by a questionnaire. This survey covered the EU member states, (potential) candidate member states and EFTA countries, in total 40 countries. Results showed little consensus concerning 1. information of parents including informed consent; 2. which conditions are screened for, ranging from 1 to around 30 conditions; 3. sampling time post partum; 4. screening methodology including cut-offs values even between screening laboratories within countries.; 5. storage of residual specimens, varying from 3 months to 1000 years. In addition, confirmatory diagnostics and follow-up also show large discrepancies...Continue Reading

References

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Citations

Mar 20, 2013·Journal of Inherited Metabolic Disease·James Robert Bonham
May 9, 2013·European Journal of Human Genetics : EJHG·Martina C CornelLuciano Vittozzi
Oct 19, 2013·Orphanet Journal of Rare Diseases·Johannes PfeilPeter Burgard
Jun 13, 2014·Blood Transfusion = Trasfusione Del Sangue·Domenica TaruscioLuciano Vittozzi
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Apr 4, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Eugene F DiekmanGepke Visser
Nov 7, 2015·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·J Sarles
Apr 16, 2015·Journal of Inherited Metabolic Disease·Stefan KölkerPeter Burgard
Feb 2, 2013·Journal of Nursing Scholarship : an Official Publication of Sigma Theta Tau International Honor Society of Nursing·Jane DeLucaAlex R Kemper
Jan 1, 2014·Journal of Clinical Laboratory Analysis·Başak TezelUğur Dilmen
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Nov 18, 2016·Journal of Inherited Metabolic Disease·Nikolas BoyUNKNOWN Additional individual contributors
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Apr 18, 2018·Annals of Neurology·Nikolas BoyStefan Kölker
Jun 1, 2015·Zdravstveno Varstvo·Andraž ŠmonTadej Battelino
Jan 18, 2018·Journal of Inherited Metabolic Disease·Ali Tunç TuncelStefan Kölker
Feb 12, 2019·Journal of Inherited Metabolic Disease·Rebecca KellerMaximilian Zeyda
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Jun 27, 2018·Journal of Inherited Metabolic Disease·R KellerM Zeyda
Apr 18, 2019·BMC Pregnancy and Childbirth·Caroline M VassKatherine Payne

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