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. Results: All (n = 30) wanted to be informed when newborn screening would show their newborn being a CF-carrier. Their main reason was the implication of this knowledge for further family planning. Other family members could be informed and children within the family could be tested. Parents stated they have the right to know, but others also expressed that the choice of not being informed should be offered as well. Conclusion: Most parents want to be informed when NBS for CF reveals that their child is a CF-carrier, but the choice of not being informed should also be offered. © 2013 Elsevier Masson SAS

Parental knowledge reduces long term anxiety induced by false-positive test results after newborn screening for cystic fibrosis

Background: False-positive screening results in newborn screening for cystic fibrosis may lead to parental stress, family relationship problems and a changed perception of the child's health. Aim of the study: To evaluate whether parental anxiety induced by a false positive screening result disappears after six months and to assess whether a special program to inform parents prior and during the screening procedure prevents or diminishes parental anxiety. Methods: Prospective controlled study assessing the long term effects of false-positive test results of newborn screening for cystic fibrosis (NBSCF) on parental anxiety and stress by means of questionnaires sent to parents of 106 infants with a false positive newborn screening test and 318 randomly selected infants with a true negative screening test. Additionally we interviewed 25 parents of the false-positive group. Results: Parents showed negative feelings after being informed about the positive screening test result. After confirmation that their child was healthy and not suffering from CF, most parents felt reassured. After six months no difference in anxiety levels between both groups of parents was found. Well-informed parents in the false positive group experienced less stress. Conclusions: A positive screening test result induces parental anxiety but false positive test results in NBSCF do not seem to cause long-term anxiety. Well-informed parents show lower stress and anxiety levels

Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data

Previous cost-effectiveness studies using data from the literature showed that newborn screening for cystic fibrosis (NBSCF) is a good economic option with positive health effects and longer survival.We used primary data to compare cost-effectiveness of four screening strategies for NBSCF, i.e. immunoreactive trypsinogen-testing followed by pancreatitis-associated protein-testing (IRT-PAP), IRT-DNA, IRT-DNA-sequencing, and IRT-PAP-DNA-sequencing, each compared to no-screening. A previously developed decision analysis model for NBSCF was fed with model parameters mainly based on a study evaluating two novel screening strategies among 145,499 newborns in The Netherlands.The four screening strategies had cost-effectiveness ratios varying from ?23,600 to ?29,200 per life-year gained. IRT-PAP had the most favourable cost-effectiveness ratio. Additional life-years can be gained by IRT-DNA but against higher costs. When treatment costs reduce with 5% due to early diagnosis, screening will lead to financial savings.NBSCF is as an economically justifiable public health initiative. Of the four strategies tested IRT-PAP is the most economic and this finding should be included in any decision making model, when considering implementation of newborn screening for CF. European Cystic Fibrosis Society. Published b