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

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 (Burgard et al. http://www.iss.it/cnmr/prog/cont.php?id=1621&lang=1&tipo=64 2011). In addition to the current practices report an expert opinion document has been produced with recommendations to the EU Commission for future improvements, e.g. in parallel to the way the USA has harmonized its practices based on recommendations by the American College of Medical Genetics (Watson et al., Pediatrics 117: S296-S307, 2006).

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

“…[1][2][3][4] VLCADD is currently included in many newborn screening (NBS) programs all over the world. 5,6 Most newborns with VLCADD identified by NBS are asymptomatic at the time of referral. 7 Because these patients are considered to be at risk of potentially life-threatening symptoms, parents often get dietary advice, including strict avoidance of fasting.…”

Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect

“…Thus, taken all together, this case argues in favor of starting an early vitamin treatment in patients presenting with a neonatal-onset hyperammonemia independently of the suspected disease and before having received a specific biochemical diagnosis. Neonatal screening for methylmalonic acidemia -including mutase deficiency and Cbl defects associated with increased MMA plasma levels -is performed in most European and US expanded neonatal screening programs (Loeber et al 2012;Sun et al 2012). The importance of such programs is once more highlighted by our findings showing a favorable and long-term outcome of a CblD-MMA patient with acute neonatal onset.…”

Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias

“…In 2010/2011 regulation and practice of population newborn screening (NBS) for rare disorders were surveyed among -at that time -27 EU member states (NBS in Belgium is different in the Flemish and in the French part, therefore contributed two data sets), five candidate countries (Croatia, Former Yugoslav Republic of Macedonia, Iceland, Montenegro, Turkey), four potential candidates (Albania, Bosnia Herzegovina, Kosovo, Serbia) and three EFTA countries (Norway, Switzerland and Liechtenstein) through a tender of the European Commission within the EU programme of Community Action in Public Health Loeber et al 2012).…”

“…Data collection covered five domains of an NBS programme, and results have been reported previously Loeber et al 2012;Cornel et al 2011).…”