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In September 2023, the UK Health Security Agency’s (UKHSA) South West Health Protection Team received notification of patients with Pseudomonas aeruginosa perichondritis. All five cases had attended the same cosmetic piercing studio and a multi-disciplinary outbreak control investigation was subsequently initiated. An additional five cases attending the same studio were found. Seven of the ten cases had isolates available for Variable Number Tandem Repeat (VNTR) typing at the UKHSA national reference laboratory. Clinical and environmental P. aeruginosa isolates from the patients, handwash sink, tap water and throughout the wall-mounted point-of-use water heater (including outlet water) were indistinguishable by VNTR typing (11,6,2,2,1,3,6,3,11). No additional cases were identified after control measures were implemented, which included replacing the sink and point-of-use heater.
The lack of specific recommendations to control for P. aeruginosa within Council-adopted ear-piercing byelaws or national guidance means that a cosmetic piercing artist could inadvertently overlook the risks from this bacterial pathogen despite every intention to comply with the law and follow industry best practice advice. Clinicians, Environmental Health Officers and public health professionals should remain alert for single cases of Pseudomonas perichondritis infections associated with piercings and have a low threshold for notification to local health protection teams.
Background: Infections due to antibiotic resistant bacteria are increasing worldwide and while, the epidemiology of these pathogens is well described in adults, pediatric specific data are lacking. We sought to gain an understanding of the risk factors for multi-drug resistant Gram-negative (MDRGN) infections in our pediatric population. Methods: We performed a retrospective review of pediatric patients seen at a pediatric hospital system in 2022 who had a culture-positive MDRGN, which was defined as a gram-negative bacteria resistant or intermediate to at least 1 antibiotic in ≥ 3 antibiotic groups. Repeat positive cultures for the same MDRGN were considered a single infection episode if occurring within a 14-day period. Demographic, clinical, and microbiologic data was obtained from the electronic medical record. Fisher’s exact was used for analysis. Results: One hundred and seventy-nine children had 237 infection episodes during the study period. Eighty-one patients (45%) were male and the median age was 5.3 years. The most prevalent MDRGNs included: Escherichia coli (154, 65%), Klebsiella spp (52, 22%), and Enterobacter spp (16, 7%). Escherichia coli was significantly more likely than other pathogens to be isolated from the urine (P = 0.008). Compared to multi-drug resistant E. coli, patients with a non-E. coli MDRGN were significantly more likely to have an underlying medical condition, recent hospitalization and antibiotic use (P≤0.001 for each, Table 1). A carbapenem was administered in 32% (75/237) of infection episodes. There were only 6 carbapenem resistant organisms. Conclusions: In our study, E. coli was the most frequent MDRGN. Most patients with a non-E. coli MDRGN infection episode had an underlying medical condition, recent hospitalization and antibiotic use. Carbapenem resistance was infrequent, though surveillance studies are needed to identify changing antibiotic resistance patterns and to direct prevention measures.
The ability to remotely monitor cognitive skills is increasing with the ubiquity of smartphones. The Mobile Toolbox (MTB) is a new measurement system that includes measures assessing Executive Functioning (EF) and Processing Speed (PS): Arrow Matching, Shape-Color Sorting, and Number-Symbol Match. The purpose of this study was to assess their psychometric properties.
Method:
MTB measures were developed for smartphone administration based on constructs measured in the NIH Toolbox® (NIHTB). Psychometric properties of the resulting measures were evaluated in three studies with participants ages 18 to 90. In Study 1 (N = 92), participants completed MTB measures in the lab and were administered both equivalent NIH TB measures and other external measures of similar cognitive constructs. In Study 2 (N = 1,021), participants completed the equivalent NIHTB measures in the lab and then took the MTB measures on their own, remotely. In Study 3 (N = 168), participants completed MTB measures twice remotely, two weeks apart.
Results:
All three measures exhibited very high internal consistency and strong test-retest reliability, as well as moderately high correlations with comparable NIHTB tests and moderate correlations with external measures of similar constructs. Phone operating system (iOS vs. Android) had a significant impact on performance for Arrow Matching and Shape-Color Sorting, but no impact on either validity or reliability.
Conclusions:
Results support the reliability and convergent validity of MTB EF and PS measures for use across the adult lifespan in remote, self-administered designs.
Child care environments offer an ideal setting for feeding interventions. CELEBRATE Feeding is an approach implemented in child care environments in two Maritime Provinces in Canada to support responsive feeding (RF) to foster children’s self-efficacy, self-regulation, and healthy relationships with food. This study aimed to describe RF in child care using established and enhanced scoring frameworks.
The Environment and Policy Assessment and Observation (EPAO) was modified to reflect RF environments and practices, resulting in our modified EPAO and a CELEBRATE scale. Observations were conducted in 18 child care rooms. Behaviours and environments were scored on both scales, creating 21 RF scores, with a score of ‘3’ indicating the most responsiveness. Descriptive analyses of the scores were conducted. The overall room averages were Mean (M) = 41.00, Standard Deviation (SD) = 7.07 (EPAO), and M = 37.92 SD = 6.50 (CELEBRATE). Most responsive scores among rooms within our EPAO and CELEBRATE scales, respectively, were ‘educators not using food to calm or encourage behaviour’ (M = 2.94, SD = 0.24; M = 2.98, SD = 0.06) and ‘not requiring children to sit at the table until finished’ (M = 2.89, SD = 0.47; M = 2.97, SD = 0.12). The least responsive scores within the EPAO were ‘educator prompts for children to drink water’ (M = 0.78, SD = 0.94) and ‘children self-serving’ (M = 0.83, SD = 0.38). The least responsive in the CELEBRATE scale were ‘enthusiastic role modelling during mealtime’ (M = 0.70, SD = 0.68) and ‘praise of mealtime behaviour unrelated to food intake’ (M = 0.74, SD = 0.55). The CELEBRATE scale captured unique observation information about RF to allow documenting change over time with detailed measurement to inform and support nutrition interventions within child care environments.
Although remote neuropsychological assessments have become increasingly common, current research on the reliability and validity of scores obtained from remote at-home assessments are sparse. No studies have examined remote at-home administration of the National Alzheimer’s Coordinating Center (NACC) Uniform Data Set (UDS) even though this battery is being used to track over 45,000 participants over time. This study aimed to determine whether remote UDS scores can be combined with in-person data by assessing whether rates of score changes over time (i.e., reliability) differed by modality and whether remote and in-person scores converge (i.e., validity).
Participants and Methods:
Data for UDS visits conducted from 09/2005 to 12/2021 from 43 Alzheimer’s Disease Research Centers were examined. We identified 311 participants (254 cognitively unimpaired, 7 impaired - not mild cognitive impairment, 25 mild cognitive impairment, 25 dementia) who completed 2 remote UDS visits 0.868 years apart (SD = 0.200 years). First, initial remote scores were correlated with most recent in-person scores. Second, we examined whether rates of change differed between remote and in-person assessments. Repeated-measure one-way ANOVA were used to compare rates calculated from the same individual from remote versus inperson assessments. We additionally identified a demographically- and visit-number-matched group of 311 participants with in-person UDS visits given that all remote visits occurred after in-person visits; one-way ANOVAs were used to compare remote rates to rates from in-person assessments from the matched in-person group. Finally, accuracy of remote scores were assessed by quantifying the difference between the actual remote scores and predicted scores based on repeated in-person assessments. These residual values were then divided by the maximum score to form error rates.
Results:
Remote UDS score on MoCA-blind, Craft story immediate and delayed recall, digits forward, digits backward, phonemic fluency (F, L, F + L), and semantic fluency (animals, vegetables, animals + vegetables) were all highly correlated (all ps < 0.001) with scores obtained from preceding in-person assessments. At the group level, within-subject comparisons between remote and in-person rates of change were not significantly different for 7/11 tests; between-subject comparisons were not significantly different for 10/11 tests. Vegetable fluency had slightly reduced rates of change with remote assessment compared to inperson assessments. Critically, remote scores were consistent with predicted scores based on the trajectory of each subject’s in-person assessments with group mean error rates ranging from 0.7% (Craft Delayed Recall) to 3.9% (Phonemic fluency - F).
Conclusions:
Our results demonstrate adequate reliability and convergent validity for remotely administered verbally based tests from the NACC UDS battery. Importantly, our findings provide some support for combining remote and in-person scores for studies that transitioned to remote testing due to COVID-19. However, future research is needed for tests with visual stimuli that assess visual memory, visuospatial function, and aspects of executive function.
There is a need to identify scalable cognitive paradigms that are sensitive enough to relate to Alzheimer's disease biomarkers (amyloid and tau) in the preclinical stage. Here, we determine whether initial performance and practice effects on the memory-focused Computerized Cognitive Composite (C3) relate to demographic variables, amyloid status [abnormal (A+), normal (A-)], and regional tau in clinically unimpaired (CU) older adults.
Participants and Methods:
We examined pre-randomization data from CU older adults screened for the Anti-Amyloid Treatment in Asymptomatic Alzheimer's Disease (A4) study. We focused on participants who completed the C3 (n=3287), most of whom completed an alternate version of the C3 again approximately 51 days later (n=4141), as well as a subset of preclinical AD participants (i.e., A+ CU) who completed the C3 and tau PET imaging with [18]F-flortaucipir (initial C3: n=354; repeat C3: n=343). C3 initial performance and practice effects were examined in relation to amyloid status (A+, A-) and continuous regional tau burden.
Results:
Initial C3 performance was associated with amyloid status [B(SE) = -0.075 (0.021), p < 0.001] across all participants, as well as tau burden in the medial temporal lobe (MTL) [B (SE) = -0.728 (0.220), p = 0.001], inferior temporal (IT) cortex [B (SE) = -0.782 (0.264), p = 0.003], and inferior parietal (IP) cortex [B (SE) = -0.721 (0.281), p = 0.011] amongst preclinical AD individuals. Short-term practice effects were also associated with reduced tau burden in MTL [B (SE) = -0.471 (0.202), p = 0.020], IT [B (SE) = -0.640 (0.240), p = 0.008], and IP [B( SE) = - 0.584 (0.255), p = 0.023] amongst preclinical AD participants, but were not associated with amyloid status [B (SE) = -0.018 (0.020), p = 0.348]. Critically, these effects with tau were only detected when baseline performance was accounted for presumably due to opposing influence from both practice effects and regression to the mean effects.
Conclusions:
This is the first study to show that performance on a brief cognitive battery administered in a multisite context is associated with both amyloid and tau among CU older adults. These findings suggest that computerized assessments may be a cost-effective and scalable approach for early detection efforts. Further, diminished practice effects on memory-based measures are associated with elevated tau burden in preclinical AD, suggesting that high-frequency cognitive testing collected over a short follow-up period may provide additional insights regarding early disease processes than single assessments.
To present validation evidence for the first eight cognitive measures available through Mobile Toolbox (MTB). These measures use a remote self-administered platform to assess language, working memory, episodic memory, executive function, and processing speed.
Participants and Methods:
We used two separate samples, recruited as part of a larger study, to validate MTB measures. Sample I, comprised of 92 English-speaking adults ages 18-85, was used to assess internal consistency and construct validity. Participants were first administered “gold standard” cognitive measures (Wechsler Memory Scale-IV Verbal Paired Associates I and II; Wechsler Adult Intelligence Scale-IV Symbol Search, Digit Span, Coding, and Letter-Number Sequencing; Delis-Kaplan Executive Function System Color-Word Interference Test, Peabody Picture Vocabulary Test, Wechsler Individual Achievement Test-4 Spelling, and the Wisconsin Card Sorting Test), after which they completed MTB (pre-loaded on a study-provided smartphone) on their own. Internal consistency was evaluated using measure-appropriate indices (split-half reliability, Cronbach’s alpha or IRT-based indices). Pearson correlation coefficients between MTB tests and measures of similar constructs were used to evaluate concurrent validity. For two tests with timing-dependent scores, Arrow Matching and Shape-Color Sorting, separate analyses were performed for iOS and Android devices. Sample II, with 1,120 English-speaking participants ages 18-90, was used to evaluate age-related change. Participants completed MTB measures remotely on their own smartphones, in a preset order, within a 14-day period. Spearman correlation coefficients, corrected for education, were calculated to evaluate relationships between age and test scores.
Results:
Sample I participants were 67% female, 52% white, 99% non-Hispanic; average age=48 (SD= 17). Education was: < high school (1%); high school (55%); some college (21%); college (15%); graduate degree (8%). Internal consistency estimates ranged from 0.81 to 0.99. Pearson correlations between MTB and external measures ranged from 0.41 to 0.86 (all p < .01). Of the timed tests, only Shape-Color sorting showed significant score differences between Android and iOS devices. Sample II was 57% female, 13% Hispanic, 72% white, mean age = 45 (SD = 21). Education distribution was: < high school (2%); high school (34%); some college (34%), college (20%); graduate degree (11%). Measures of executive function (r = -0.50; r=-0.57) and processing speed (r= -0.61) showed the expected negative correlation with age (all p <0.001). Negative correlations, although weaker, were also seen on measures of working memory (r=-0.2) and episodic memory (r=-0.2, r=-0.37; p.<.001). Vocabulary performance improved with age (r=0.4; p<.001), while spelling scores remained stable (r=0.09).
Conclusions:
Initial studies support the validity and reliability of the first eight MTB cognitive measures in two diverse samples. MTB tests showed satisfactory construct validity, as demonstrated by the associations between MTB and well-established tests. Furthermore, most MTB measures correlated with age in the expected directions. Executive function, processing speed and memory typically decrease with age and this decrease was reflected in MTB test performance. In contrast, spelling and vocabulary, typically preserved as we age, did not decrease in our sample. Our results support the use of MTB in cognitive aging research.
Recent arguments claim that behavioral science has focused – to its detriment – on the individual over the system when construing behavioral interventions. In this commentary, we argue that tackling economic inequality using both framings in tandem is invaluable. By studying individuals who have overcome inequality, “positive deviants,” and the system limitations they navigate, we offer potentially greater policy solutions.
To increase inclusivity, diversity, equity and accessibility in Antarctic science, we must build more positive and inclusive Antarctic field work environments. The International Thwaites Glacier Collaboration (ITGC) has engaged in efforts to contribute to that goal through a variety of activities since 2018, including creating an open-access ‘Field and Ship Best Practices’ guide, engaging in pre-field season team dynamics meetings, and surveying post-field season reflections and experiences. We report specific actions taken by ITGC and their outcomes. We found that strong and supported early career researchers brought new and important perspectives regarding strategies for transforming culture. We discovered that engaged and involved senior leadership was also critical for expanding participation and securing funding to support efforts. Pre-field discussions involving all field team members were particularly helpful for setting expectations, improving sense of belonging, describing field work best practices, and co-creating a positive work culture.
Anaemia is characterised by low hemoglobin (Hb) concentration. Despite being a public health concern in Ethiopia, the role of micronutrients and non-nutritional factors as a determinant of Hb concentrations has been inadequately explored. This study focused on the assessment of serum micronutrient and Hb concentrations and a range of non-nutritional factors, to evaluate their associations with the risk of anaemia among the Ethiopian population (n 2046). It also explored the mediation effect of Zn on the relation between se and Hb. Bivariate and multivariate regression analyses were performed to identify the relationship between serum micronutrients concentration, inflammation biomarkers, nutritional status, presence of parasitic infection and socio-demographic factors with Hb concentration (n 2046). Sobel–Goodman test was applied to investigate the mediation of Zn on relations between serum se and Hb. In total, 18·6 % of participants were anaemic, 5·8 % had iron deficiency (ID), 2·6 % had ID anaemia and 0·6 % had tissue ID. Younger age, household head illiteracy and low serum concentrations of ferritin, Co, Cu and folate were associated with anaemia. Serum se had an indirect effect that was mediated by Zn, with a significant effect of se on Zn (P < 0·001) and Zn on Hb (P < 0·001). The findings of this study suggest the need for designing a multi-sectorial intervention to address anaemia based on demographic group.
Exclusion of special populations (older adults; pregnant women, children, and adolescents; individuals of lower socioeconomic status and/or who live in rural communities; people from racial and ethnic minority groups; individuals from sexual or gender minority groups; and individuals with disabilities) in research is a pervasive problem, despite efforts and policy changes by the National Institutes of Health and other organizations. These populations are adversely impacted by social determinants of health (SDOH) that reduce access and ability to participate in biomedical research. In March 2020, the Northwestern University Clinical and Translational Sciences Institute hosted the “Lifespan and Life Course Research: integrating strategies” “Un-Meeting” to discuss barriers and solutions to underrepresentation of special populations in biomedical research. The COVID-19 pandemic highlighted how exclusion of representative populations in research can increase health inequities. We applied findings of this meeting to perform a literature review of barriers and solutions to recruitment and retention of representative populations in research and to discuss how findings are important to research conducted during the ongoing COVID-19 pandemic. We highlight the role of SDOH, review barriers and solutions to underrepresentation, and discuss the importance of a structural competency framework to improve research participation and retention among special populations.
OBJECTIVES/GOALS: As the number of older adults (≥65 years) with T1D grows, there are limited data to guide care. In a six-month trial, CGM reduced hypoglycemia in older adults, yet there are challenges for widespread uptake. Our objective is to characterize older adults experiences with using CGM and define suboptimal responses signaling a need for resources or support. METHODS/STUDY POPULATION: The study will engage key stakeholders (i.e., older adults with T1D, caregivers [recruited as patient-caregiver dyads], and providers [endocrinologists, geriatricians, diabetes educators]) for a Group Model Building (GMB). GMB is a participatory approach to system dynamics in which participants share perceptions and experiences with a problem and collaboratively explore the system structure that shapes those trends. A series of 8 GMB workshops will be held with 3-8 participants. The final study n will be determined by thematic saturation. Workshops comprise 1) a questionnaire, 2) a GMB session, and 3) a focus group discussion. GMB will follow a replicable process to generate a model of the complex web of causal determinants affecting CGM-related experiences, including optimal and suboptimal CGM responses. RESULTS/ANTICIPATED RESULTS: To date, the study has enrolled 33 participants, including 28 older adults living with T1D and 5 caregivers (mean age = 74 years, range 67-83 years). Twenty-four patient participants will be active CGM users and 4 will be CGM non-users. The study will report on patient data capture from the questionnaire and EMR, including demographics, experiences, familiarity, and confidence surrounding CGM use; diabetes duration; insulin pump use; history of severe hypoglycemia. Analysis of aggregated data will generate causal loop diagrams that integrate pertinent theoretical frameworks, lived experiences, and CGM outcomes. Maps will be used to identify a set of suboptimal CGM responses (i.e., key outcome trajectories) that signal a need for action, with a diagram of factors that interact to produce each response. DISCUSSION/SIGNIFICANCE: Delivering CGM to older adults with T1D demands new approaches. This study will yield critical evidence to tailor support and resources for effective CGM use in older adults. Findings may be translated into suite of pragmatic interventions to bolster CGM use and matched to individual patients expected to benefit using a precision medicine framework.
Multiple micronutrient deficiencies are widespread in Ethiopia. However, the distribution of Se and Zn deficiency risks has previously shown evidence of spatially dependent variability, warranting the need to explore this aspect for wider micronutrients. Here, blood serum concentrations for Ca, Mg, Co, Cu and Mo were measured (n 3102) on samples from the Ethiopian National Micronutrient Survey. Geostatistical modelling was used to test spatial variation of these micronutrients for women of reproductive age, who represent the largest demographic group surveyed (n 1290). Median serum concentrations were 8·6 mg dl−1 for Ca, 1·9 mg dl−1 for Mg, 0·4 µg l−1 for Co, 98·8 µg dl−1 for Cu and 0·2 µg dl−1 for Mo. The prevalence of Ca, Mg and Co deficiency was 41·6 %, 29·2 % and 15·9 %, respectively; Cu and Mo deficiency prevalence was 7·6 % and 0·3 %, respectively. A higher prevalence of Ca, Cu and Mo deficiency was observed in north western, Co deficiency in central and Mg deficiency in north eastern parts of Ethiopia. Serum Ca, Mg and Mo concentrations show spatial dependencies up to 140–500 km; however, there was no evidence of spatial correlations for serum Co and Cu concentrations. These new data indicate the scale of multiple mineral micronutrient deficiency in Ethiopia and the geographical differences in the prevalence of deficiencies suggesting the need to consider targeted responses during the planning of nutrition intervention programmes.
Studies examining the role of geographic factors in coronavirus disease-2019 (COVID-19) epidemiology among rural populations are lacking.
Methods:
Our study is a population-based longitudinal study based on rural residents in four southeast Minnesota counties from March through October 2020. We used a kernel density estimation approach to identify hotspots for COVID-19 cases. Temporal trends of cases and testing were examined by generating a series of hotspot maps during the study period. Household/individual-level socioeconomic status (SES) was measured using the HOUSES index and examined for association between identified hotspots and SES.
Results:
During the study period, 24,243 of 90,975 residents (26.6%) were tested for COVID-19 at least once; 1498 (6.2%) of these tested positive. Compared to other rural residents, hotspot residents were overall younger (median age: 40.5 vs 43.2), more likely to be minorities (10.7% vs 9.7%), and of higher SES (lowest HOUSES [SES] quadrant: 14.6% vs 18.7%). Hotspots accounted for 30.1% of cases (14.5% of population) for rural cities and 60.8% of cases (27.1% of population) for townships. Lower SES and minority households were primarily affected early in the pandemic and higher SES and non-minority households affected later.
Conclusion:
In rural areas of these four counties in Minnesota, geographic factors (hotspots) play a significant role in the overall burden of COVID-19 with associated racial/ethnic and SES disparities, of which pattern differed by the timing of the pandemic (earlier in pandemic vs later). The study results could more precisely guide community outreach efforts (e.g., public health education, testing/tracing, and vaccine roll out) to those residing in hotspots.
Anthocyanins and bromelain have gained significant attention due to their antioxidative and anti-inflammatory properties. Both have been shown to improve endothelial function, blood pressure (BP) and oxygen utility capacity in humans; however, the combination of these two and the impacts on endothelial function, BP, total antioxidant capacity (TAC) and oxygen utility capacity have not been previously investigated. The purpose of this study was to investigate the impacts of a combined anthocyanins and bromelain supplement (BE) on endothelial function, BP, TAC, oxygen utility capacity and fatigability in healthy adults. Healthy adults (n 18, age 24 (sd 4) years) received BE or placebo in a randomised crossover design. Brachial artery flow-mediated dilation (FMD), BP, TAC, resting heart rate, oxygen utility capacity and fatigability were measured pre- and post-BE and placebo intake. The BE group showed significantly increased FMD, reduced systolic BP and improved oxygen utility capacity compared with the placebo group (P < 0·05). Tissue saturation and oxygenated Hb significantly increased following BE intake, while deoxygenated Hb significantly decreased (P < 0·05) during exercise. Additionally, TAC was significantly increased following BE intake (P < 0·05). There were no significant differences for resting heart rate, diastolic BP or fatigability index. These results suggest that BE intake is an effective nutritional therapy for improving endothelial function, BP, TAC and oxygen utility capacity, which may be beneficial to support vascular health in humans.
Stressful experiences affect biological stress systems, such as the hypothalamic–pituitary–adrenal (HPA) axis. Life stress can potentially alter regulation of the HPA axis and has been associated with poorer physical and mental health. Little, however, is known about the relative influence of stressors that are encountered at different developmental periods on acute stress reactions in adulthood. In this study, we explored three models of the influence of stress exposure on cortisol reactivity to a modified version of the Trier Social Stress Test (TSST) by leveraging 37 years of longitudinal data in a high-risk birth cohort (N = 112). The cumulative stress model suggests that accumulated stress across the lifespan leads to dysregulated reactivity, whereas the biological embedding model implicates early childhood as a critical period. The sensitization model assumes that dysregulation should only occur when stress is high in both early childhood and concurrently. All of the models predicted altered reactivity, but do not anticipate its exact form. We found support for both cumulative and biological embedding effects. However, when pitted against each other, early life stress predicted more blunted cortisol responses at age 37 over and above cumulative life stress. Additional analyses revealed that stress exposure in middle childhood also predicted more blunted cortisol reactivity.
Non-invasive prenatal testing (NIPT) for the detection of foetal aneuploidy through analysis of cell-free DNA (cfDNA) in maternal blood is offered routinely by many healthcare providers across the developed world. This testing has recently been recommended for evaluative implementation in the UK National Health Service (NHS) foetal anomaly screening pathway as a contingent screen following an increased risk of trisomy 21, 18 or 13. In preparation for delivering a national service, we have implemented cfDNA-based NIPT in our Regional Genetics Laboratory. Here, we describe our validation and verification processes and initial experiences of the technology prior to rollout of a national screening service.
Methods
Data are presented from more than 1000 patients (215 retrospective and 840 prospective) from ‘high- and low-risk pregnancies’ with outcome data following birth or confirmatory invasive prenatal sampling. NIPT was by the Illumina Verifi® test.
Results
Our data confirm a high-fidelity service with a failure rate of ~0.24% and a high sensitivity and specificity for the detection of foetal trisomy 13, 18 and 21. Secondly, the data show that a significant proportion of patients continue their pregnancies without prenatal invasive testing or intervention after receiving a high-risk cfDNA-based result. A total of 46.5% of patients referred to date were referred for reasons other than high screen risk. Ten percent (76/840 clinical service referrals) of patients were referred with ultrasonographic finding of a foetal structural anomaly, and data analysis indicates high- and low-risk scan indications for NIPT.
Conclusions
NIPT can be successfully implemented into NHS regional genetics laboratories to provide high-quality services. NHS provision of NIPT in patients with high-risk screen results will allow for a reduction of invasive testing and partially improve equality of access to cfDNA-based NIPT in the pregnant population. Patients at low risk for a classic trisomy or with other clinical indications are likely to continue to access cfDNA-based NIPT as a private test.