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J Cyst Fibros. 2017 Mar;16(2):207-213. doi: 10.1016/j.jcf.2016.12.012. Epub 2016 Dec 30.

The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe.

Author information

1
Cystic Fibrosis Centre, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland. Electronic address: juerg.barben@kispisg.ch.
2
Cystic Fibrosis Centre, Azienda Ospedaliera Verona, Verona, Italy.
3
Atrium Medical Centre, Department of Pediatrics, Heerlen, The Netherlands.
4
Cystic Fibrosis Centre, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
5
Department of Cystic Fibrosis, Research Centre for Medical Genetics, Moscow, Russia.
6
Mid-Western Regional Hospital, Dooradoyle, Limerick, Ireland.
7
Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
8
AFDPHE & Hôpital Robert Debré, Paris, France.
9
Cystic Fibrosis Centre, Institute of Mother and Child, Warsaw, Poland.
10
Division of Pediatric Pulmonology & Allergy, Department of Pediatrics III, University of Heidelberg, Heidelberg, Germany; Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany.
11
Institute in the Park, Alder Hey Children's Hospital, University of Liverpool, UK.

Abstract

BACKGROUND:

Newborn screening (NBS) for cystic fibrosis (CF) is a well-established public health strategy with international standards. The aim of this study was to provide an update on NBS for CF in Europe and assess performance against the standards.

METHODS:

Questionnaires were sent to key workers in each European country.

RESULTS:

In 2016, there were 17 national programmes, 4 countries with regional programmes and 25 countries not screening in Europe. All national programmes employed different protocols, with IRT-DNA the most common strategy. Five countries were not using DNA analysis. In addition, the processing and structure of programmes varied considerably. Most programmes were achieving the ECFS standards with respect to timeliness, but were less successful with respect to sensitivity and specificity.

CONCLUSIONS:

There has been a steady increase in national CF NBS programmes across Europe with variable strategies and outcomes that reflect the different approaches.

KEYWORDS:

CFSPID; Carriers; Cystic fibrosis; IRT; Newborn bloodspot screening; PAP

PMID:
28043799
DOI:
10.1016/j.jcf.2016.12.012
[Indexed for MEDLINE]
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