False-Positive Newborn Screening for Cystic Fibrosis and Health Care Use

Hayeems, Robin Z.; Miller, Fiona A.; Vermeulen, Marian J.; Potter, Beth K.; Chakraborty, Pranesh; Davies, Christine; Carroll, June C.; Ratjen, Félix; Guttmann, Astrid

doi:10.1542/peds.2017-0604

Cited by 24 publications

(22 citation statements)

References 20 publications

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“…10 The number of allogeneic RBC units used in each facility was assumed to have a negative binomial error distribution-a common approach for modeling counts when overdispersion is likely. [11][12][13] Forward model selection based on the Akaike information criterion (AIC) 14 was used to determine the optimal metric, although the first step of model selection included only variables related to facility size (Table 1). Variables remained in the model only if they had a p value less than 0.05.…”

Section: Methodsmentioning

confidence: 99%

Is surgical volume still the most accurate indicator of blood usage in the United States?

et al. 2019

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BACKGROUND Estimates of blood collection and use in the United States derived from the National Blood Collection and Utilization Survey (NBCUS) call for application of robust statistical methods in the analysis of survey data. Since 1993, annual inpatient surgical volume has been used as the main stratification variable for sampling and estimation. However, recent NBCUS results have shown a decrease in blood use in surgical settings, raising the possibility that inpatient surgical volume may no longer be the optimal stratification variable. The objective of this study is to explore factors affecting hospital blood utilization. STUDY DESIGN AND METHODS A multivariate generalized linear regression with a negative binomial distribution was used to determine which hospital characteristics best explained allogeneic red blood cell (RBC) use, using data from the 2015 NBCUS to determine hospital blood use and the 2013 annual American Hospital Association database to identify hospital characteristics. RESULTS Annual inpatient surgical volume explained the most variation in allogeneic RBC use among hospitals (pseudo‐R2 of 70.8%). Additional variables, such as presence of an oncology service, were also statistically significant in the models but explained little additional variability in blood use. CONCLUSION These findings suggest that annual inpatient surgical volume is an appropriate indicator for estimating blood utilization in the United States. As trends in blood utilization continue to evolve, ongoing analytic efforts to understand indicators of blood use are necessary.

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Section: Methodsmentioning

confidence: 99%

Is surgical volume still the most accurate indicator of blood usage in the United States?

et al. 2019

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“…As designed, this screening algorithm does identify a large number of CF carriers, with 880 apparent carriers identified over the nine-year study period. The reporting of carrier status as part of a newborn screening program creates potential harms for families given a loss of autonomy for the newborn, concerns regarding the residual risk of disease, and heightened perception of the vulnerability of the infant [15]. Our program attempts to minimize these harms through further reducing the residual risk of disease with the second IRT sample, offering an optional sweat test for those with lingering concerns, and providing a dedicated CF liaison nurse to communicate with the families throughout the screening process.…”

Section: Program Performancementioning

confidence: 99%

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

Sinclair

McMahon

Schellenberg

et al. 2020

IJNS

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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.

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“…The literature in this area has demonstrated mixed results . The largest study to date found that the false‐positive group had significantly higher rates of outpatient visits and inpatient hospitalizations for children three to fifteen months of age compared to matched controls whose screening results were negative . Such findings suggest connections between the lived family experience of uncertainty about the meaning of newborn screening results and subsequent medical decisions regarding the health of the infant.…”

Section: Essaymentioning

confidence: 99%

Families’ Experiences with Newborn Screening: A Critical Source of Evidence

Grob¹,

Roberts²,

Timmermans³

2018

Hastings Center Report

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Debates about expanding newborn screening with whole genome sequencing are fueled by data about public perception, public opinion, and the positions taken by public advocates and advocacy groups. One form of evidence that merits attention as we consider possible uses of whole-genome sequencing during the newborn period is parents' (and children's) diverse experiences with existing expanded screening protocols. What do we know about this experience base? And what implications might these data have for decisions about how we use whole genome sequencing and how we assess its impact in the future? Although the broader literature on genetic susceptibility testing suggests that testing usually does not have adverse effects on children's psychosocial well-being, certain newborn screening results have been demonstrated to cause distress, alter behavior, and even to influence the formation of new parental and family identities.

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False-Positive Newborn Screening for Cystic Fibrosis and Health Care Use

Abstract: Higher use of outpatient services among FP infants may relate to a lengthy confirmatory testing process or follow-up carrier testing. However, increased rates of hospitalization might signal heightened perceptions of vulnerability among healthy infants.

Cited by 24 publications

References 20 publications

Is surgical volume still the most accurate indicator of blood usage in the United States?

Is surgical volume still the most accurate indicator of blood usage in the United States?

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

Families’ Experiences with Newborn Screening: A Critical Source of Evidence

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