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.

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.

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.

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).

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.