scholarly journals It All Depends What You Count—The Importance of Definitions in Evaluation of CF Screening Performance

2020 ◽  
Vol 6 (2) ◽  
pp. 47
Author(s):  
Natasha Heather ◽  
Dianne Webster
Keyword(s):  
Cystic Fibrosis ◽  
New Zealand ◽  
Newborn Screening ◽  
Quality Assessment ◽  
Key Factors ◽  
Meaningful Comparison ◽  
Screening Performance ◽  
Increased Risk ◽  
Screening Sensitivity ◽  
Quality Assessment And Improvement

Screening metrics are essential to both quality assessment and improvement, but are highly dependent on the way positive tests and cases are counted. In cystic fibrosis (CF) screening, key factors include how mild cases of late-presenting CF and CF screen positive, inconclusive diagnosis (CFSPID) are counted, whether those at prior increased risk of CF are excluded from the screened population, and which aspects of the screening pathway are considered. This paper draws on the New Zealand experience of almost forty years of newborn screening for CF. We demonstrate how different definitions impact the calculation of screening sensitivity. We suggest that, to enable meaningful comparison, CF screening reports should clarify what steps in the screening pathway are included in the assessment, as well as the algorithm used and screening target.

scholarly journals Factors affecting the growth of infants diagnosed with cystic fibrosis by newborn screening

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
K. D. Patterson ◽  
T. Kyriacou ◽  
M. Desai ◽  
W. D. Carroll ◽  
F. J. Gilchrist
Keyword(s):  
Cystic Fibrosis ◽  
Birth Weight ◽  
Newborn Screening ◽  
Clinic Visit ◽  
Healthy Population ◽  
Z Score ◽  
Poor Growth ◽  
Increased Risk ◽  
Significant Difference ◽  
Future Growth

Abstract Background Newborn screening (NBS) for cystic fibrosis (CF) improves nutritional outcomes. Despite early dietetic intervention some children fail to grow optimally. We report growth from birth to 2 years in a cohort of children diagnosed with CF by NBS and identify the variables that influence future growth. Methods One hundred forty-four children were diagnosed with CF by the West Midlands Regional NBS laboratory between November 2007 and October 2014. All anthropometric measurements and microbiology results from the first 2 years were collated as was demographic and CF screening data. Classification modelling was used to identify the key variables in determining future growth. Results Complete data were available on 129 children. 113 (88%) were pancreatic insufficient (PI) and 16 (12%) pancreatic sufficient (PS). Mean birth weight (z score) was 3.17 kg (− 0.32). There was no significant difference in birth weight (z score) between PI and PS babies: 3.15 kg (− 0.36) vs 3.28 kg (− 0.05); p = 0.33. By the first clinic visit the difference was significant: 3.42 kg (− 1.39) vs 4.60 kg (− 0.48); p < 0.0001. Weight and height remained lower in PI infants in the first year of life. In the first 2 years of life, 18 (14%) infants failed to regain their birth weight z score. The median time to achieve a weight z score of − 2, − 1 and 0 was 18, 33 and 65 weeks respectively. The median times to reach the same z scores for height were 30, 51 and 90 weeks. Birth weight z score, change in weight z score from birth to first clinic, faecal elastase, isolation of Pseudomonas aeruginosa, isolation of Staphylococcus aureus and sweat chloride were the variables identified by the classification models to predict weight and height in the first and second year of life. Conclusions Babies with CF have a lower birth weight than the healthy population. For those diagnosed with CF by NBS, the weight difference between PI and PS babies was not significantly different at birth but became so by the first clinic visit. The presence of certain factors, most already identifiable at the first clinic visit can be used to identify infant at increased risk of poor growth.

scholarly journals Addressing Uncertainty: The Emergence of the CRMS/CFSPID Diagnostic Category Following Newborn Screening for Cystic Fibrosis

OBM Genetics ◽  
2021 ◽  
Vol 05 (03) ◽  
pp. 1-1
Author(s):  
Michelle Lynne LaBonte ◽  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Diagnostic Category ◽  
Public Health Approach ◽  
Positive Screen ◽  
Early Twenty ◽  
Increased Risk ◽  
Wide Range ◽  
Long Term Follow Up ◽  
The Many

This article uses cystic fibrosis as a case study to examine how physicians and scientists have navigated uncertainty following newborn screening. Despite the many benefits of newborn screening, including earlier diagnosis, therapeutic intervention, and a reduced diagnostic odyssey, this public health approach also comes with challenges. For example, physicians began to document infants with indeterminate diagnoses - those with a positive screen who did not clearly fit into the cystic fibrosis or “normal” categories - by the early twenty first century. As a means of addressing this uncertainty and to facilitate long-term follow up of such infants, the U.S. Cystic Fibrosis Foundation recommended in 2009 that a new diagnostic term, CFTR-related metabolic syndrome (CRMS), be used. However, the CRMS label was not favored in Europe and a different term, cystic fibrosis screen positive, inconclusive diagnosis (CFSPID), was adopted in 2015 instead. Efforts to address the uncertainty associated with indeterminate diagnoses have been complicated, as stakeholders have held differing views about whether the screening algorithms should aim to maximize or minimize CRMS/CFSPID cases. Many who favor the identification of babies with CRMS/CFSPID note that they are at increased risk of developing symptoms and signs consistent with a cystic fibrosis diagnosis. In contrast, those who support algorithms that reduce CRMS/CFSPID cases point to iatrogenic harms associated with the medicalization of children who may remain healthy into adulthood. Furthermore, investigators have grappled with how best to ensure equity in newborn screening among different racialized groups while concomitantly attempting to minimize false positive results. These issues are applicable beyond the context of cystic fibrosis, especially as programs contemplate the incorporation or expanded use of next generation sequencing in algorithms for a wide range of diseases, and this history highlights how efforts to reduce uncertainty in one setting can lead to new and persistent sources of uncertainty in other areas.

Methamphetamine use and psychotic symptoms: findings from a New Zealand longitudinal birth cohort

2021 ◽  
pp. 1-8
Author(s):  
Joseph M. Boden ◽  
James A. Foulds ◽  
Giles Newton-Howes ◽  
Rebecca McKetin
Keyword(s):  
New Zealand ◽  
General Population ◽  
Birth Cohort ◽  
Individual Characteristics ◽  
Psychotic Symptoms ◽  
Confounding Factors ◽  
Long Term Effects ◽  
Methamphetamine Use ◽  
Increased Risk ◽  
Psychosis Risk

Abstract Background This study examined the association between methamphetamine use and psychotic symptoms in a New Zealand general population birth cohort (n = 1265 at birth). Methods At age 18, 21, 25, 30, and 35, participants reported on their methamphetamine use and psychotic symptoms in the period since the previous interview. Generalized estimating equations modelled the association between methamphetamine use and psychotic symptoms (percentage reporting any symptom, and number of symptoms per participant). Confounding factors included childhood individual characteristics, family socioeconomic circumstances and family functioning. Long term effects of methamphetamine use on psychotic symptoms were assessed by comparing the incidence of psychotic symptoms at age 30–35 for those with and without a history of methamphetamine use prior to age 30. Results After adjusting for confounding factors and time-varying covariate factors including concurrent cannabis use, methamphetamine use was associated with a modest increase in psychosis risk over five waves of data (adjusted odds ratio (OR) 1.33, 95% confidence interval (CI) 1.03–1.72 for the percentage measure; and IRR 1.24, 95% CI 1.02–1.50 for the symptom count measure). The increased risk of psychotic symptoms was concentrated among participants who had used at least weekly at any point (adjusted OR 2.85, 95% CI 1.21–6.69). Use of methamphetamine less than weekly was not associated with increased psychosis risk. We found no evidence for a persistent vulnerability to psychosis in the absence of continuing methamphetamine use. Conclusion Methamphetamine use is associated with increased risk of psychotic symptoms in the general population. Increased risk is chiefly confined to people who ever used regularly (at least weekly), and recently.

scholarly journals Variation in treatment preferences of pulmonary exacerbations among Australian and New Zealand cystic fibrosis physicians

2021 ◽  
Vol 8 (1) ◽  
pp. e000956
Author(s):  
Grace Currie ◽  
Anna Tai ◽  
Tom Snelling ◽  
André Schultz
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Trials ◽  
New Zealand ◽  
Treatment Options ◽  
Early Response ◽  
Treatment Preferences ◽  
Dornase Alfa ◽  
Clinical Scenarios ◽  
Professional Opinion ◽  
Pulmonary Exacerbations

BackgroundDespite advances in cystic fibrosis (CF) management and survival, the optimal treatment of pulmonary exacerbations remains unclear. Understanding the variability in treatment approaches among physicians might help prioritise clinical uncertainties to address through clinical trials.MethodsPhysicians from Australia and New Zealand who care for people with CF were invited to participate in a web survey of treatment preferences for CF pulmonary exacerbations. Six typical clinical scenarios were presented; three to paediatric and another three to adult physicians. For each scenario, physicians were asked to choose treatment options and provide reasons for their choices.ResultsForty-nine CF physicians (31 paediatric and 18 adult medicine) participated; more than half reported 10+ years of experience. There was considerable variation in primary antibiotic selection; none was preferred by more than half of respondents in any scenario. For secondary antibiotic therapy, respondents consistently preferred intravenous tobramycin and a third antibiotic was rarely prescribed, except in one scenario describing an adult patient. Hypertonic saline nebulisation and twice daily chest physiotherapy was preferred in most scenarios while dornase alfa use was more variable. Most CF physicians (>80%) preferred to change therapy if there was no early response. Professional opinion was the most common reason for antibiotic choice.ConclusionsVariation exists among CF physicians in their preferred choice of primary antibiotic and use of dornase alfa. These preferences are driven by professional opinion, possibly reflecting a lack of evidence to base policy recommendations. Evidence from high-quality clinical trials is needed to inform physician decision making.

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