Dataset Information

Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

ABSTRACT: Newborn screening for Cystic Fibrosis has been implemented in most programs worldwide, but the approach used varies, including combinations of immunoreactive trypsinogen (IRT) and CFTR mutation analysis on one or more specimens. The British Columbia (BC) newborn screening program tests ~45,000 infants per year in BC and the Yukon Territory, covering almost 1.5 million km2 in western Canada. CF screening was initiated using an IRT-DNA-IRT approach with a second bloodspot card at 21 days of age for all CFTR mutation heterozygotes and any non-carriers in the top 0.1% for IRT. This second IRT was implemented to avoid sweat testing of infants without persistent hypertrypsinemia, reducing the burden of travel for families. Over nine years (2010-2018), 401,977 infants were screened and CF was confirmed in 76, and a further 28 were deemed CF screen positive inconclusive diagnosis (CFSPID). Day 21 IRT was normal in 880 CFTR mutation carriers who were quoted a very low CF risk and offered optional sweat testing. Only 13% of families opted for sweat testing and a total of 1036 sweat tests were avoided. There were six false negative CF cases (and three CFSPID) due to a low initial IRT or no CFTR mutations. Although one CFSPID case had a normal repeat IRT result, the addition of the day 21 IRT did not contribute to any CF false negatives.

SUBMITTER: Sinclair G

PROVIDER: S-EPMC7423010 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

Sinclair Graham G McMahon Vanessa V Schellenberg Amy A Nelson Tanya N TN Chilvers Mark M Vallance Hilary H

International journal of neonatal screening 20200602 2

Newborn screening for Cystic Fibrosis has been implemented in most programs worldwide, but the approach used varies, including combinations of immunoreactive trypsinogen (IRT) and CFTR mutation analysis on one or more specimens. The British Columbia (BC) newborn screening program tests ~45,000 infants per year in BC and the Yukon Territory, covering almost 1.5 million km<sup>2</sup> in western Canada. CF screening was initiated using an IRT-DNA-IRT approach with a second bloodspot card at 21 day ...[more]

PMID: 33073036

Similar Datasets

Project description:Tree cavities provide a critical resource for cavity-nesting animals, and high quality cavities can be difficult for animals to acquire in habitats where competition is high. We investigated the breeding performance of Lewis's Woodpeckers in three habitat types in British Columbia, Canada in 2013 and 2014. We also assessed whether the number of nest competitors and cavity availability influenced the habitat specific breeding performance of this threatened cavity nesting species. We found that daily nest survival rate was lower in burned habitat (0.15 ± 0.08 (0.05-0.37)) than in live pine (0.72 ± 0.10 (0.51-0.87)) or cottonwood (0.69 ± 0.09 (0.51-0.83)) habitats. However, hatching success (the proportion of eggs that hatch) was lower in live pine habitat (0.59 ± 0.09 95% CI) than burned (0.77 ± 0.19 95% CI) or cottonwood (0.80 ± 0.07 95% CI) habitat, and the fledging success of successful nests in live pine and burned habitat (1.86 ± 0.31 and 1.88 ± 0.59 95% CI, respectively) was slightly lower than in cottonwood habitat (2.61 ± 0.45 95% CI). Consequently, Lewis's Woodpeckers in cottonwood habitat produced more fledglings per nesting attempt (2.05 ± 0.49 95% CI) than in live pine (1.53 ± 0.35 95% CI) or burned (0.79 ± 0.49 95% CI) habitat. Habitats differed in the number of nesting competitors and the number of suitable cavities surrounding active Lewis's Woodpecker nests. Our results showed that cavity density best explained breeding performance differences although the mechanisms remain unclear. There was no evidence that the number of heterospecific nest competitors, including the invasive European Starling (Sturnus vulgaris), explained or influenced Lewis's Woodpecker breeding performance. Cavity density influenced the productivity of successful nests but did not explain habitat differences in hatching success or daily nest survival. Further work is required to understand the mechanistic basis for the habitat specific breeding performance of Lewis's Woodpeckers. Habitat differences in breeding performance in British Columbia are not consistent with those in other regions, highlighting the importance of regionally-specific demographic data for managing species at risk.

Project description:BackgroundPeople undergoing chronic dialysis are at an increased risk of active tuberculosis (TB). In 2012, the Canadian province of British Columbia began systematically screening people initiating dialysis for latent TB using interferon-gamma release assay (IGRA), and treating when appropriate.ObjectiveThe objective of this study was to compare active TB rate in people who initiated dialysis and were screened using an IGRA compared with those not screened during the same period.DesignRetrospective cohort study.SettingBritish Columbia (BC), a Canadian province of 5.0 million people with an active TB incidence of 5.1 per 100 000 population.ParticipantsAll people in BC who initiated at least 90 days of dialysis between January 2012 and May 2017 were included in the study. People were excluded if they were <18 years of age or had a prior history of active TB diagnosis or treatment for latent TB.MethodsA retrospective cohort was created of British Columbians who initiated dialysis between 2012 and 2017. Individuals were stratified into a screened and nonscreened group. Multivariable Cox regression was used to determine the association between latent TB screening and the development of active TB. The primary outcome was incident active TB, either microbiologically confirmed or clinically diagnosed.ResultsOf the 3190 people included in the study, 1790 (56.1%) were screened, of which 152 (8.5%) initiated latent TB treatment postscreening. During follow-up, incident active TB was diagnosed in 6 (0.3%) of the 1790 people screened, compared with 11 (0.8%) of the 1400 people who received no screening. In multivariable analysis, latent TB screening and treatment was associated with a significant reduction in the rate of active TB (adjusted hazard ratio = 0.3, 95% confidence interval = 0.1-0.8; P < .01).LimitationsThis was an observational retrospective study and the potential for unmeasured confounding should be carefully assessed.ConclusionsThese findings suggest that systematically screening and treating people initiating dialysis can significantly decrease the rate of active TB in this high-risk population. Given the importance of screening high-risk groups, the results from this analysis could inform scale-up of TB screening in dialysis programs in other low incidence regions. Trial registration is not applicable as this was a retrospective cohort analysis and not a randomized trial.

Project description:Breast cancer screening programs operate across Canada providing mammography to women in target age groups with the goal of reducing breast cancer mortality through early detection of tumors. Disparities in breast screening participation among socio-demographic groups, including immigrants, have been reported in Canada. Our objectives were to: (1) assess breast screening participation and retention among immigrant and nonimmigrant women in British Columbia (BC), Canada; and (2) to characterize factors associated with screening among screening-age recent immigrant women in BC. We examined 2 population-based cohorts of women eligible for breast screening participation (537 783 women) and retention (281 052 women) using linked health and immigration data. Breast screening rates were presented according to socio-demographic and health-related variables stratified by birth country. Factors associated with screening among recent immigrant women were explored using Poisson regression. We observed marked variation in screening participation across birth country cohorts. Eastern European/Central Asian women showed low participation (37.9%) with rates from individual countries ranging from 35.0% to 49.0%. Participation rates for immigrant women from the most common birth countries, such as China/Macau/Hong Kong/Taiwan (45.7%), India (44.5%), the Philippines (45.9%), and South Korea (39.0%), were lower than the nonimmigrant rates (51.2%). Retention rates showed less variation by birth country; however, some disparities between immigrant and nonimmigrant groups persisted. Associations between screening indicators and study factors varied considerably across immigrant groups. Primary care physician visits were consistently positively associated with screening participation; this variable was also the only predictor associated with screening within each of the groups of recent immigrants. Our study provides unique data on both screening participation and retention among Canadian immigrant women compiled by individual country of birth. Our results are further demonstration that screening disparities exist among immigrant populations as well as in comparison with nonimmigrant women.

Dataset Information

Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

Publications

Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets