scholarly journals Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature

2020 ◽  
Vol 26 (3) ◽  
pp. 335-355 ◽  
Author(s):  
Eva Van Steijvoort ◽  
Davit Chokoshvili ◽  
Jeffrey W Cannon ◽  
Hilde Peeters ◽  
Karen Peeraer ◽  
...  
Keyword(s):  
Systematic Review ◽  
General Population ◽  
Empirical Studies ◽  
Carrier Screening ◽  
Perceived Usefulness ◽  
Cochrane Library ◽  
Expanded Carrier Screening ◽  
Increased Risk ◽  
Uptake Rates ◽  
Prospective Parents

Abstract BACKGROUND Through carrier screening, prospective parents can acquire information about whether they have an increased risk of conceiving a child affected with an autosomal recessive or X-linked condition. Within the last decade, advances in genomic technologies have facilitated a shift from condition-directed carrier screening to expanded carrier screening (ECS). Following the introduction of ECS, several studies have been performed to gauge the interest in this new technology among individuals and couples in the general population. OBJECTIVE AND RATIONALE The aim of this systematic review was to synthesize evidence from empirical studies that assess the interest in ECS among individuals and couples in the general population. As the availability and accessibility of ECS grow, more couples who are a priori not at risk based on their personal or family history will be presented with the choice to accept or decline such an offer. Their attitudes and beliefs, as well as the perceived usefulness of this screening modality, will likely determine whether ECS is to become a widespread reproductive genetic test. SEARCH METHODS Four databases (Pubmed, Web of Science, CINAHL, Cochrane Library) were systematically searched to identify English language studies performed between January 2009 and January 2019 using the following search terms: carrier screening, carrier testing, attitudes, intention, interest, views, opinions, perspectives and uptake. Studies were eligible for inclusion if they reported on intentions to undergo a (hypothetical) ECS test, uptake of an actual ECS offer or both. Two researchers performed a multistep selection process independently for validation purposes. OUTCOMES Twelve empirical studies performed between 2015 and 2019 were included for analysis. The studies originated from the USA (n = 6), the Netherlands (n = 3), Belgium (n = 1), Sweden (n = 1) and Australia (n = 1). The sample size of the studies varied from 80 to 1669. In the included studies, 32%–76% of respondents were interested in a (hypothetical) ECS test, while uptake rates for actual ECS offers ranged from 8% to 50%. The highest overall uptake was observed when ECS was offered to pregnant women (50%). By contrast, studies focusing on the preconception population reported lower overall uptake rates (8–34%) with the exception of one study where women were counseled preconception in preparation for IVF (68.7%). WIDER IMPLICATIONS Our findings suggest that there may be discrepancies between prospective parents’ reported intentions to undergo ECS and their actual uptake, particularly during the preconception period. As ECS is a new and relatively unknown test for most future parents, the awareness and comprehension within the general population could be rather limited. Adequate pre- and post-test counseling services should be made available to couples offered ECS to ensure informed reproductive decision-making, together with guidelines for primary health care professionals. Due to restricted nature of the samples and methods of the underlying primary studies, some of the reported results might not be transferable to a broader population. More research is needed to see if the observed trends also apply to a broader and more diverse population.

scholarly journals Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population

2021 ◽  
Author(s):  
Thirsa Conijn ◽  
Ivy van Dijke ◽  
Lotte Haverman ◽  
Phillis Lakeman ◽  
Frits A Wijburg ◽  
...  
Keyword(s):  
General Population ◽  
Focus Groups ◽  
Autosomal Recessive Disorder ◽  
Carrier Screening ◽  
Test Results ◽  
Focus Group Study ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening ◽  
Mps Iii ◽  
Prospective Parents

AbstractPreconception expanded carrier screening (ECS) enables prospective parents to assess their risk of having a child with an autosomal recessive disorder. Knowledge on motivations, feelings, and considerations people have towards the offer and use of ECS is limited. To enrich the public and professional discussion on ECS implementation, this study explored the perspectives towards various aspects of ECS in seven focus groups compromising first- and second-degree relatives of MPS III patients (N=9, N=4, N=5, N=5) and members of the general Dutch population (N=6, N=7, N=5). The focus groups were audio recorded and the transcripts were qualitatively analyzed to identify themes. Both relatives of MPS III patients and participants from the general population supported offering ECS, in particular for severe, childhood-onset disorders. Important barriers identified for ECS were a lack of genetic knowledge and a perceived lack of personal relevance and awareness, as well as out-of-pocket costs of testing. The majority of participants would prefer full disclosure of individual test results instead of couple-based test results. Moreover, offering people a choice for the way of reporting was proposed. All participants agreed that more efforts, for example by governmental campaigns, should be made to increase awareness on the availability, potentials, and limitations of ECS. Educating prospective parents about ECS is essential for increasing awareness and informed decision making. This study provides valuable insights that can be used by governments and public health authorities when considering implementation of preconception ECS.

scholarly journals EXPRESS: Stroke risk following traumatic brain injury: systematic review and meta-analysis

2021 ◽  
pp. 174749302110042
Author(s):  
Grace Mary Turner ◽  
Christel McMullan ◽  
Olalekan Lee Aiyegbusi ◽  
Danai Bem ◽  
Tom Marshall ◽  
...  
Keyword(s):  
Systematic Review ◽  
Stroke Risk ◽  
Meta Analysis ◽  
Vitamin K Antagonists ◽  
Cochrane Library ◽  
Control Group ◽  
Large Sample Size ◽  
Hazard Ratios ◽  
Increased Risk ◽  
The Cochrane Library

Aims To investigate the association between TBI and stroke risk. Summary of review We undertook a systematic review of MEDLINE, EMBASE, CINAHL, and The Cochrane Library from inception to 4th December 2020. We used random-effects meta-analysis to pool hazard ratios (HR) for studies which reported stroke risk post-TBI compared to controls. Searches identified 10,501 records; 58 full texts were assessed for eligibility and 18 met the inclusion criteria. The review included a large sample size of 2,606,379 participants from four countries. Six studies included a non-TBI control group, all found TBI patients had significantly increased risk of stroke compared to controls (pooled HR 1.86; 95% CI 1.46-2.37). Findings suggest stroke risk may be highest in the first four months post-TBI, but remains significant up to five years post-TBI. TBI appears to be associated with increased stroke risk regardless of severity or subtype of TBI. There was some evidence to suggest an association between reduced stroke risk post-TBI and Vitamin K antagonists and statins, but increased stroke risk with certain classes of antidepressants. Conclusion TBI is an independent risk factor for stroke, regardless of TBI severity or type. Post-TBI review and management of risk factors for stroke may be warranted.

scholarly journals Systematic review and meta-analysis of female lifestyle factors and risk of recurrent pregnancy loss

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ka Ying Bonnie Ng ◽  
George Cherian ◽  
Alexandra J. Kermack ◽  
Sarah Bailey ◽  
Nick Macklon ◽  
...  
Keyword(s):  
Systematic Review ◽  
General Population ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Meta Analysis ◽  
Lifestyle Factors ◽  
Caffeine Intake ◽  
Increased Risk ◽  
Secondary Outcomes

AbstractIt is known that lifestyle factors affect sporadic miscarriage, but the extent of this on RPL (recurrent pregnancy loss) is less well known. A systematic review and meta-analysis was performed to assess the associations between lifestyle factors and RPL. Studies that analysed RPL in the context of BMI, smoking, alcohol and caffeine intake were included. The primary and secondary outcomes were odds of having RPL in the general population and odds of further miscarriage, respectively. Underweight and women with BMI > 25 are at higher odds of RPL in the general population (OR 1.2, 95% CI 1.12–1.28 and OR 1.21, 95% CI 1.06–1.38, respectively). In women with RPL, having BMI > 30 and BMI > 25 has increased odds of further miscarriages (OR 1.77, 95% CI 1.25–2.50 and OR 1.35, 95% CI 1.07–1.72, respectively). The quality of the evidence for our findings was low or very low. Being underweight and BMI > 25 contributes significantly to increased risk of RPL (general population). BMI > 25 or BMI > 30 increases the risk of further miscarriages (RPL population). Larger studies addressing the effects of alcohol, cigarette smoking and caffeine on the risk of RPL with optimisation of BMI in this cohort of women are now needed.

Executive functions in children with heart disease: a systematic review and meta-analysis

2021 ◽  
pp. 1-9
Author(s):  
William M. Jackson ◽  
Nicholas Davis ◽  
Johanna Calderon ◽  
Jennifer J. Lee ◽  
Nicole Feirsen ◽  
...  
Keyword(s):  
Systematic Review ◽  
Executive Functions ◽  
Data Extraction ◽  
Meta Analysis ◽  
Executive Dysfunction ◽  
Cochrane Library ◽  
Planning Problem ◽  
Healthy Controls ◽  
Cross Sectional ◽  
Increased Risk

Abstract Context: People with CHD are at increased risk for executive functioning deficits. Meta-analyses of these measures in CHD patients compared to healthy controls have not been reported. Objective: To examine differences in executive functions in individuals with CHD compared to healthy controls. Data sources: We performed a systematic review of publications from 1 January, 1986 to 15 June, 2020 indexed in PubMed, CINAHL, EMBASE, PsycInfo, Web of Science, and the Cochrane Library. Study selection: Inclusion criteria were (1) studies containing at least one executive function measure; (2) participants were over the age of three. Data extraction: Data extraction and quality assessment were performed independently by two authors. We used a shifting unit-of-analysis approach and pooled data using a random effects model. Results: The search yielded 61,217 results. Twenty-eight studies met criteria. A total of 7789 people with CHD were compared with 8187 healthy controls. We found the following standardised mean differences: −0.628 (−0.726, −0.531) for cognitive flexibility and set shifting, −0.469 (−0.606, −0.333) for inhibition, −0.369 (−0.466, −0.273) for working memory, −0.334 (−0.546, −0.121) for planning/problem solving, −0.361 (−0.576, −0.147) for summary measures, and −0.444 (−0.614, −0.274) for reporter-based measures (p < 0.001). Limitations: Our analysis consisted of cross-sectional and observational studies. We could not quantify the effect of collinearity. Conclusions: Individuals with CHD appear to have at least moderate deficits in executive functions. Given the growing population of people with CHD, more attention should be devoted to identifying executive dysfunction in this vulnerable group.

328 Insomnia in older HIV patients: a systematic review

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A131-A131
Author(s):  
Igor Freire ◽  
Miguel Meira e Cruz ◽  
Cristina Salles
Keyword(s):  
Systematic Review ◽  
General Population ◽  
Animal Studies ◽  
Advanced Age ◽  
Cochrane Library ◽  
Hiv Positive ◽  
Sleep Difficulty ◽  
Cross Sectional ◽  
Previous Diagnosis ◽  
Worse Prognosis

Abstract Introduction Insomnia is a common sleep disorder in elderly. Although the HIV-positive population have a similar life expectancy when compared to the general population, some factors may interact with immunity conditions and therefore contribute to a worse prognosis. Little is known however, about the frequency of insomnia in older HIV-positive patients. OBJECTIVE: To systematic review the prevalence of insomnia in older HIV-positive patients. Methods Systematic Review. Several databases were consulted (MEDLINE-PubMed, Embase, Cochrane Library, CINAHL, Web of Science, Scopus, SciELO, LILACS, and VHL) and manual searches were performed. The terms used for the search were related to prevalence, HIV, insomnia, and advanced age. The inclusion criteria were: cross-sectional, cohort, and longitudinal studies. The accepted data were in patients with the previous diagnosis of HIV in advanced age, those over 50 years; studies that report the frequency of insomnia or insomnia symptoms (accepted symptoms: difficulty in starting sleep, difficulty in maintaining sleep, multiple awakenings during sleep and early awakening). The criteria for exclusion were: clinical trials, animal studies, letters, abstracts, conference proceedings, studies with other sleep scales that did not include insomnia. Results There were 2805 publications found in the database and a further 10 articles were included manually. Of this total, four were included in this review, resulting in a total of 2,227 participants. The prevalence of insomnia in HIV-positive patients over 50 years varied from 12.5% to 76.5%. Conclusion The frequency of insomnia was higher in the profile of the population studied than in the general population. This should be clinically relevant in order to adequately treat and impact on the prognosis of those patient. Support (if any):

scholarly journals Daily sodium consumption and CVD mortality in the general population: systematic review and meta-analysis of prospective studies

2014 ◽  
Vol 18 (4) ◽  
pp. 695-704 ◽  
Author(s):  
Rosana Poggio ◽  
Laura Gutierrez ◽  
María G Matta ◽  
Natalia Elorriaga ◽  
Vilma Irazola ◽  
...  
Keyword(s):  
Systematic Review ◽  
Relative Risk ◽  
General Population ◽  
Prospective Studies ◽  
Meta Analysis ◽  
Cochrane Library ◽  
Random Effects Models ◽  
Meta Regression ◽  
Cvd Mortality

AbstractObjectiveThe purpose of the present study was to determine whether elevated dietary Na intake could be associated with CVD mortality.DesignWe performed a systematic review and meta-analysis of prospective studies representing the general population. The adjusted relative risks and their 95 % confidence intervals were pooled by the inverse variance method using random-effects models. Heterogeneity, publication bias, subgroup and meta-regression analyses were performed.SettingsMEDLINE (since 1973), Embase (since 1975), the Cochrane Library (since 1976), ISI Web of Science, Google Scholar (until September 2013) and secondary referencing were searched for inclusion in the study.SubjectEleven prospective studies with 229 785 participants and average follow-up period of 13·37 years (range 5·5–19 years).ResultsHigher Na intake was significantly associated with higher CVD mortality (relative risk=1·12; 95 % CI 1·06, 1·19). In the sensitivity analysis, the exclusion of studies with important relative weights did not significantly affect the results (relative risk=1·08; 95 % CI 1·01, 1·15). The meta-regression analysis showed that for every increase of 10 mmol/d in Na intake, CVD mortality increased significantly by 1 % (P=0·016). Age, hypertensive status and length of follow-up were also associated with increased CVD mortality.ConclusionsHigher Na intake was associated with higher CVD mortality in the general population; this result suggests a reduction in Na intake to prevent CVD mortality from any cause.

What women want: General population perspectives and access to preconception expanded carrier screening

2021 ◽  
Author(s):  
Liya Rabkina ◽  
Amy Swanson ◽  
Sharon Aufox ◽  
Lauren Propst ◽  
Morris Fiddler ◽  
...  
Keyword(s):  
General Population ◽  
Carrier Screening ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening

scholarly journals Humanistic burden and economic impact of heart failure – a systematic review of the literature

F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 859 ◽  
Author(s):  
Lucia Giles ◽  
Caroline Freeman ◽  
Polly Field ◽  
Elisabeth Sörstadius ◽  
Bernt Kartman
Keyword(s):  
Heart Failure ◽  
Systematic Review ◽  
General Population ◽  
Economic Impact ◽  
Chronic Diseases ◽  
Resource Use ◽  
Kansas City ◽  
Short Form ◽  
Cochrane Library ◽  
Humanistic Burden

Background: Heart failure (HF) is increasing in prevalence worldwide. This systematic review was conducted to inform understanding of its humanistic and economic burden. Methods: Electronic databases (Embase, MEDLINE®, and Cochrane Library) were searched in May 2017. Data were extracted from studies reporting health-related quality of life (HRQoL) in 200 patients or more (published 2007–2017), or costs and resource use in 100 patients or more (published 2012–2017). Relevant HRQoL studies were those that used the 12- or 36-item Short-Form Health Surveys, EuroQol Group 5-dimensions measure of health status, Minnesota Living with Heart Failure Questionnaire or Kansas City Cardiomyopathy Questionnaire. Results: In total, 124 studies were identified: 54 for HRQoL and 71 for costs and resource use (Europe: 25/15; North America: 24/50; rest of world/multinational: 5/6). Overall, individuals with HF reported worse HRQoL than the general population and patients with other chronic diseases. Some evidence identified supports a correlation between increasing disease severity and worse HRQoL. Patients with HF incurred higher costs and resource use than the general population and patients with other chronic conditions. Inpatient care and hospitalizations were identified as major cost drivers in HF. Conclusions: Our findings indicate that patients with HF experience worse HRQoL and incur higher costs than individuals without HF or patients with other chronic diseases. Early treatment of HF and careful disease management to slow progression and to limit the requirement for hospital admission are likely to reduce both the humanistic burden and economic impact of HF.

scholarly journals Effectiveness and safety of inpatient versus extended venous thromboembolism (VTE) prophylaxis with heparin following major pelvic surgery for malignancy: protocol for a systematic review

2019 ◽  
Vol 8 (1) ◽  
Author(s):  
Bridget Heijkoop ◽  
Natalie Parker ◽  
George Kiroff ◽  
Daniel Spernat
Keyword(s):  
Systematic Review ◽  
Venous Thromboembolism ◽  
Systematic Reviews ◽  
Pelvic Surgery ◽  
Current Evidence ◽  
Cochrane Library ◽  
Vte Prophylaxis ◽  
Optimum Duration ◽  
Number Of Patients ◽  
Increased Risk

Abstract Background Venous thromboembolism (VTE) is a common postoperative complication associated with significant morbidity and mortality. The use of prophylactic heparin postoperatively reduces this risk, and the use of extended duration prophylaxis is becoming increasingly common. Malignancy and pelvic surgery both independently further increase the risk of postoperative VTE and patients undergoing major pelvic surgery for malignancy are at particularly high risk of VTE. However, the optimum duration of prophylaxis specifically in this population currently remains unclear. Methods We will conduct a systematic review of literature in accordance with the Cochrane Handbook for Systematic Reviews of Interventions (Higgins JPT, Green S. Cochrane Handbook for Systematic Reviews of Interventions version 5.1.0.,2011) to evaluate current evidence of the effectiveness and safety of inpatient versus extended VTE prophylaxis with heparin (all forms) following major pelvic surgery for malignancy. We will search PubMed, EMBASE, and the Cochrane Library. Regarding safety, Food and Drug Administration (FDA), and Therapeutic Goods Administration (TGA) websites will be searched, including all levels of evidence. Results will be the postoperative timeframe in which a VTE event can be considered to have been provoked by the surgery, and the number of patients needed to treat with both inpatient and extended prophylaxis to prevent a VTE event in this timeframe, comparing these to determine if there is a significant benefit from extended prophylaxis. Discussion This systematic review will aim to identify the postoperative period in which patients undergoing major pelvic surgery for malignancy are at further increased risk of VTE as a result of their surgery and the optimum duration of heparin VTE prophylaxis with heparin to reduce this risk. Determining this will allow evidence-based recommendations to be made for the optimum duration of heparin VTE prophylaxis post major pelvic surgery for malignancy, leading to improved standards of care that are consistent between different providers and institutions. Systematic review registration In accordance with guidelines, our systematic review was submitted to PROSPERO for consideration of registration on 16/12/17 and was registered on 12/1/18 with the registration number CRD42018068961, and it was last updated on December 1, 2018.

scholarly journals Neurocognitive Deficits Associated With ADHD in Athletes: A Systematic Review

2018 ◽  
Vol 10 (4) ◽  
pp. 317-326 ◽  
Author(s):  
Poyrung Poysophon ◽  
Ashwin L. Rao
Keyword(s):  
Systematic Review ◽  
Stimulant Medication ◽  
Adolescent And Young Adult ◽  
Symptom Reporting ◽  
Cognitive Test ◽  
Cochrane Library ◽  
Neurocognitive Deficits ◽  
Inclusion Criteria ◽  
Increased Risk ◽  
The Impact

Context: Attention deficit hyperactivity disorder (ADHD) is a common childhood disorder and is frequently diagnosed in young adults. Emerging studies suggest a relationship between ADHD and concussion. Objective: To determine whether athletes with ADHD are at increased risk for neurocognitive deficits related to concussion risk, symptom reporting, and recovery. Data Sources: A comprehensive search of PubMed, CINAHL, PsychInfo, and Cochrane Library databases was performed. Studies conducted between 2006 and 2017 were reviewed, although only those between 2013 and 2017 met inclusion criteria. Study Selection: Studies that examined neurocognitive deficits in adolescent and young adult athletes aged 15 to 19 years who had ADHD and reported using notable neuropsychological evaluation tools were included. Study Design: Systematic review. Level of Evidence: Level 2. Results: A total of 17 studies met the inclusion criteria. The prevalence of ADHD in athletes varied between 4.2% and 8.1%. Overall, athletes with ADHD demonstrated lower scores on neurocognitive testing such as the ImPACT (Immediate Post-Concussion Assessment and Cognitive Test), increased risk for concussion, and increased symptom reporting. There was no evidence that treatment with stimulant medication changed these risks. Conclusion: ADHD is associated with increased neurocognitive deficits in athletes, although pathophysiology remains unclear. Evidence for stimulant treatment in athletes with ADHD continues to be sparse.

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