Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.

Background: Newborn screening for cystic fibrosis (NBSCF) was introduced in the Dutch NBS program in 2011 with a novel strategy.

Methods: Dutch NBSCF consisted of four steps: immuno-reactive trypsin (IRT), Pancreatitis-associated Protein (PAP), DNA analysis by Inno-LiPa (35 mutations), extended gene analysis (EGA) as fourth step and as safety net. Only samples with two CFTR-variants were considered screen-positive, but samples with one disease-causing variant were considered also screen-positive from April 2013.

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

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.

Clinical evaluation of the Nanoduct sweat test system in the diagnosis of cystic fibrosis after newborn screening.

Unlabelled: After a positive newborn screening test for cystic fibrosis (CF), a sweat test is performed to confirm the diagnosis. The success rate of the generally acknowledged methods (Macroduct/Gibson and Cooke) in newborns varies between 73 and 99%. The Nanoduct sweat test system is easier to perform and less sweat is needed.

To know or not to know, disclosure of a newborn carrier screening test result for cystic fibrosis.

Purpose: Most newborn screening (NBS) strategies for Cystic Fibrosis (CF) also identify carriers. However, it is unclear if parents want to be informed about their child's carrier status or not.

Methods: Focus group discussions with pregnant couples to explore their opinions about disclosure of a carrier result for CF of their newborn.

The influence of sex, gestational age, birth weight, blood transfusion, and timing of the heel prick on the pancreatitis-associated protein concentration in newborn screening for cystic fibrosis.

Background: Pancreatitis-associated protein (PAP) is currently discussed as a marker in newborn screening (NBS) for cystic fibrosis (CF). However, it is not known if PAP concentrations are influenced by sex, gestational age, birth weight, blood transfusion or time of collection and what this would mean for NBS for CF.

Methods: In 2008 all newborns in part of the Netherlands were screened for CF by an IRT/PAP protocol.

Paediatrics in Amsterdam.

The aim of this update is to describe the paediatric highlights from the 2011 European Respiratory Society (ERS) Annual Congress in Amsterdam, the Netherlands. Abstracts from all seven groups of the ERS Paediatric Assembly (Paediatric Respiratory Physiology, Paediatric Asthma and Allergy, Cystic Fibrosis, Paediatric Respiratory Infection and Immunology, Neonatology and Paediatric Intensive Care, Paediatric Respiratory Epidemiology, and Paediatric Bronchology) are presented in the context of current literature.

Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011.

When new technical possibilities arise in health care, often attunement is needed between different actors from the perspectives of research, health care providers, patients, ethics and policy. For cystic fibrosis (CF) such a process of attunement in the Netherlands started in a committee of the Health Council on neonatal screening in 2005. In the balancing of pros and cons according to Wilson and Jungner criteria, the advantages for the CF patient were considered clear, even though CF remains a severe health problem with treatment.

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study.

Context: Newborn screening for cystic fibrosis (CF) is included in many routine programmes but current strategies have considerable drawbacks, such as false-positive tests, equivocal diagnosis and detection of carriers.

Objective: To assess the test performance of two newborn screening strategies for CF.

Design, Setting And Participants: In 2008 and 2009, CF screening was added to the routine screening programme as a prospective study in part of The Netherlands.

European best practice guidelines for cystic fibrosis neonatal screening.

There is wide agreement on the benefits of NBS for CF in terms of lowered disease severity, decreased burden of care, and reduced costs. Risks are mainly associated with disclosure of carrier status and diagnostic uncertainty. When starting a NBS programme for CF it is important to take precautions in order to minimise avoidable risks and maximise benefits.

Newborn screening for cystic fibrosis.

Background: Does newborn screening for cystic fibrosis (CF) improve clinical outcomes, quality of life and survival?

Objectives: To examine whether newborn screening for CF prevents or reduces irreversible organ damage and improves clinical outcomes, quality of life and survival in people with CF without unacceptable adverse effects.

Search Strategy: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register comprising references identified from electronic database searches, handsearches of relevant journals and abstract books of conference proceedings.The Group's Trials Register last searched: June 2008.

CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening.

Aims: To obtain more insight into the variability of the CFTR mutations found in immigrant cystic fibrosis (CF) patients who are living in Europe now, and to estimate the test sensitivity of different frequently used methods of DNA analysis to detect CF carriers or patients among these Turkish or North African immigrants.

Methods: A survey among 373 European CF centers asking which CFTR mutations had been found in Turkish and North African CF patients.

Results: 31 and 26 different mutations were reported in Turkish and North African patients, identifying 64.

Extended gene analysis can increase specificity of neonatal screening for cystic fibrosis.

Aim: To assess whether carriers and patients can be accurately identified by extended gene analysis for cystic fibrosis (CF) in dried blood spots.

Methods: A blinded analysis was performed in 10-mm2 blood spots on Guthrie cards, punched as if to remove material for the IRT test, from 10 CF patients and 10 carriers with known CF mutations. Genomic DNA was isolated.

Cost-effectiveness of 4 neonatal screening strategies for cystic fibrosis.

Objectives: The purpose of this work was to assess the costs of 4 neonatal screening strategies for cystic fibrosis in relation to health effects. In each strategy, the first test was the measurement of serum concentration of immunoreactive trypsin. The second step consisted of either a second immunoreactive trypsin test (strategy 1) or a multiple mutation analysis (strategy 2).

A survey of newborn screening for cystic fibrosis in Europe.

Background: Cystic fibrosis (CF) is a recessively inherited condition caused by mutation of the CFTR gene. Newborn infants with CF have raised levels of immuno-reactive trypsinogen (IRT) in their serum. Measurement of IRT in the first week of life has enabled CF to be incorporated into existing newborn screening (NBS) blood spot protocols.

Review of outcomes of neonatal screening for cystic fibrosis versus non-screening in Europe.

We reviewed the published results of European prospective cohort and controlled studies and 1 randomized controlled study to assess whether newborn screening (NBS) for cystic fibrosis (CF) leads to an improved prognosis. We used long-term survival, early mortality, nutritional and pulmonary status, and the number of hospital admissions as outcome measures. Effects on reproductive behavior of the parents and relatives were also assessed.

Early versus late diagnosis: psychological impact on parents of children with cystic fibrosis.

Objectives: To explore the relationship between the period preceding diagnosis and the way parents of children with cystic fibrosis (CF) experience and handle their child's disease.

Design: A retrospective study.

Setting: CF Center "Noordwest Nederland," the Netherlands.