Journal of Inherited Metabolic Disease

, Volume 35, Issue 4, pp 603–611

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

  • J. Gerard Loeber
  • Peter Burgard
  • Martina C. Cornel
  • Tessel Rigter
  • Stephanie S. Weinreich
  • Kathrin Rupp
  • Georg F. Hoffmann
  • Luciano Vittozzi
SSIEM Symposium 2011

DOI: 10.1007/s10545-012-9483-0

Cite this article as:
Loeber, J.G., Burgard, P., Cornel, M.C. et al. J Inherit Metab Dis (2012) 35: 603. doi:10.1007/s10545-012-9483-0

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).

Abbreviations

3HMG

3-Hydroxy-3-methylglutaric aciduria

3MCC

3-Methylcrotonyl-CoA carboxylase deficiency/3-Methylglutacon aciduria/2-methyl-3-OH-butyric aciduria

AAD

Disorders of amino acid metabolism

ARG

Argininemia

ASA

Argininosuccinic aciduria

BIO

Biotinidase deficiency

BKT

Beta-ketothiolase deficiency

BTHA

S beta 0-thalassaemia

CAH

Congenital adrenal hyperplasia

CF

Cystic fibrosis

CH

Primary congenital hypothyroidism

CITI

Citrullinaemia type I

CITII

Citrullinaemia type II

CPT I

Carnitin palmitoyltransferase deficiency type I

CPT II

Carnitin palmitoyltransferase type II-/Carnitine acylcarnitine transporter deficiency

CUD

Carnitine uptake defect

DECR

2,4-Dienoyl-CoA reductase deficiency

EFTA

European Free Trade Association

EAHC

Executive Agency for Health and Consumers

EQA(S)

External Quality Assessment (Scheme)

EUNENBS

European Network of Experts on Newborn Screening

FAOD

Disorders of fatty acid metabolism

FYROM

Former Yugoslavian Republic of Macedonia

GAI

Glutaric acidaemia type I

GAII

Glutaric acidaemia type II

GALT

Classical galactosaemia

HCI

Homocystinuria (CBS deficiency)

HCSD

Holocarboxylase synthetase deficiency

Hemo/ HpB

Haemoglobinopathies

HPLC

High performance liquid chromatography

HPT I III

Hypermethionaemia types I, III

ISO

International Standards Organization

IVA

Isovaleric acidaemia (IVA)/ 2-Methylbutyrylglycinuria

LCHADD

Long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency/Trifunctional protein deficiency

M

Miscellaneous disorders

MCADD

Medium-chain acyl-CoA dehydrogenase deficiency

MMA

Malonic acidaemia

MMACBL

Methylmalonic acidaemia including Cbl A,B C, D defects

MSUD

Maple Syrup Urine Disease

NBS

Neonatal (newborn) Screening

NEQAS

National External Quality Assessment Scheme (UK)

OA

Disorders of organic acid metabolism

PA

Propionic acidaemia

PKU/HPA

Phenylketonuria/Hyperphenylalaninaemia

QA/QC

Quality assurance/Quality control

S-S

S,S disease (Sickle cell anaemia)

SC

S,C disease (Sickle – C disease)

SCADD

Short-chain acyl-CoA dehydrogenase deficiency

SCHADD

Medium-short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

TYRI

Tyrosinaemia type I

TYRII_III

Tyrosinaemia types II III

UDP

UDP-galactose-4-epimerase deficiency

UK

United Kingdom

VLCADD

Very long-chain acyl-CoA dehydrogenase deficiency

Copyright information

© SSIEM and Springer 2012

Authors and Affiliations

  • J. Gerard Loeber
    • 1
  • Peter Burgard
    • 2
  • Martina C. Cornel
    • 3
  • Tessel Rigter
    • 3
  • Stephanie S. Weinreich
    • 3
  • Kathrin Rupp
    • 2
  • Georg F. Hoffmann
    • 2
  • Luciano Vittozzi
    • 4
  1. 1.National Institute for Public Health (RIVM)BilthovenThe Netherlands
  2. 2.Department of PaediatricsUniversity HospitalHeidelbergGermany
  3. 3.Clinical Genetics/EMGO InstituteVU University Medical CentreAmsterdamThe Netherlands
  4. 4.National Centre for Rare DiseasesRomeItaly