Urine tests for Down's syndrome screening

Background Down's syndrome occurs when a person has three copies of chromosome 21, or the specific area of chromosome 21 implicated in causing Down's syndrome, rather than two. It is the commonest congenital cause of mental disability and also leads to numerous metabolic and structural problems. It can be life-threatening, or lead to considerable ill health, although some individuals have only mild problems and can lead relatively normal lives. Having a baby with Down's syndrome is likely to have a significant impact on family life. The risk of a Down's syndrome affected pregnancy increases with advancing maternal age. Noninvasive screening based on biochemical analysis of maternal serum or urine, or fetal ultrasound measurements, allows estimates of the risk of a pregnancy being affected and provides information to guide decisions about definitive testing. Before agreeing to screening tests, parents need to be fully informed about the risks, benefits and possible consequences of such a test. This includes subsequent choices for further tests they may face, and the implications of both false positive and false negative screening tests (i.e. invasive diagnostic testing, and the possibility that a miscarried fetus may be chromosomally normal). The decisions that may be faced by expectant parents inevitably engender a high level of anxiety at all stages of the screening process, and the outcomes of screening can be associated with considerable physical and psychological morbidity. No screening test can predict the severity of problems a person with Down's syndrome will have. Objectives To estimate and compare the accuracy of first and second trimester urine markers for the detection of Down's syndrome. Search methods We carried out a sensitive and comprehensive literature search of MEDLINE (1980 to 25 August 2011), EMBASE (1980 to 25 August 2011), BIOSIS via EDINA (1985 to 25 August 2011), CINAHL via OVID (1982 to 25 August 2011), The Database of Abstracts of Reviews of Effectiveness (The Cochrane Library 2011, Issue 7), MEDION (25 August 2011), The Database of Systematic Reviews and Meta-Analyses in Laboratory Medicine (25 August 2011), The National Research Register (archived 2007), Health Services Research Projects in Progress database (25 August 2011). We studied reference lists and published review articles. Selection criteria Studies evaluating tests of maternal urine in women up to 24 weeks of gestation for Down's syndrome, compared with a reference standard, either chromosomal verification or macroscopic postnatal inspection. Data collection and analysis We extracted data as test positive or test negative results for Down's and non-Down's pregnancies allowing estimation of detection rates (sensitivity) and false positive rates (1-specificity). We performed quality assessment according to QUADAS (Quality Assessment of Diagnostic Accuracy Studies) criteria. We used hierarchical summary ROC (receiver operating characteristic) meta-analytical methods to analyse test performance and compare test accuracy. We performed analysis of studies allowing direct comparison between tests. We investigated the impact of maternal age on test performance in subgroup analyses. Main results We included 19 studies involving 18,013 pregnancies (including 527 with Down's syndrome). Studies were generally of high quality, although differential verification was common with invasive testing of only high-risk pregnancies. Twenty-four test combinations were evaluated formed from combinations of the following seven different markers with and without maternal age: AFP (alpha-fetoprotein), ITA (invasive trophoblast antigen), ß-core fragment, free ßhCG (beta human chorionic gonadotrophin), total hCG, oestriol, gonadotropin peptide and various marker ratios. The strategies evaluated included three double tests and seven single tests in combination with maternal age, and one triple test, two double tests and 11 single tests without maternal age. Twelve of the 19 studies only evaluated the performance of a single test strategy while the remaining seven evaluated at least two test strategies. Two marker combinations were evaluated in more than four studies; second trimester ß-core fragment (six studies), and second trimester ß-core fragment with maternal age (five studies). In direct test comparisons, for a 5% false positive rate (FPR), the diagnostic accuracy of the double marker second trimester ß-core fragment and oestriol with maternal age test combination was significantly better (ratio of diagnostic odds ratio (RDOR): 2.2 (95% confidence interval (CI) 1.1 to 4.5), P = 0.02) (summary sensitivity of 73% (CI 57 to 85) at a cut-point of 5% FPR) than that of the single marker test strategy of second trimester ß-core fragment and maternal age (summary sensitivity of 56% (CI 45 to 66) at a cut-point of 5% FPR), but was not significantly better (RDOR: 1.5 (0.8 to 2.8), P = 0.21) than that of the second trimester ß-core fragment to oestriol ratio and maternal age test strategy (summary sensitivity of 71% (CI 51 to 86) at a cut-point of 5% FPR). Authors' conclusions Tests involving second trimester ß-core fragment and oestriol with maternal age are significantly more sensitive than the single marker second trimester ß-core fragment and maternal age, however, there were few studies. There is a paucity of evidence available to support the use of urine testing for Down's syndrome screening in clinical practice where alternatives are available

Ocular screening tests of elementary school children

This report presents an analysis of 507 abnormal retinal reflex images taken of Huntsville kindergarten and first grade students. The retinal reflex images were obtained by using an MSFC-developed Generated Retinal Reflex Image System (GRRIS) photorefractor. The system uses a 35 mm camera with a telephoto lens with an electronic flash attachment. Slide images of the eyes were examined for abnormalities. Of a total of 1835 students screened for ocular abnormalities, 507 were found to have abnormal retinal reflexes. The types of ocular abnormalities detected were hyperopia, myopia, astigmatism, esotropia, exotropia, strabismus, and lens obstuctions. The report shows that the use of the photorefractor screening system is an effective low-cost means of screening school children for abnormalities

Patient Understanding of Benefits, Risks, and Alternatives to Screening Colonoscopy

While several tests and strategies are recommended for colorectal cancer (CRC) screening, studies suggest that primary care providers often recommend colonoscopy without providing information about its risks or alternatives. These observations raise concerns about the quality of informed consent for screening colonoscopy

Creation of a 13-Item Bedside Dysphagia Screening Test

Dysphagia is a common problem that affects people with many health conditions and that can have serious complications. Various dysphagia screening tests exist; however, their creation was associated with certain weaknesses, e.g. none of them used “objective” instrumental tests (e.g., videofluoroscopy or flexible endoscopic examination of swallowing, FEES) in all patients to verify the results. In addition, most dysphagia screening tests were developed for stroke patients. The purpose of this study was to fill this gap. Our research included not only patients with stroke but also patients with other neurological and otorhinolaryngologic conditions. We tested 33 physical examination items in 44 patients and analyzed the results by comparing them to FEES results. Our study is the first one that performed this kind of comparison in all the patients enrolled in the study. Data mining was used to create a 13-item dysphagia screening test that has 88.2% sensitivity

ConfidentCare: A Clinical Decision Support System for Personalized Breast Cancer Screening

Breast cancer screening policies attempt to achieve timely diagnosis by the regular screening of apparently healthy women. Various clinical decisions are needed to manage the screening process; those include: selecting the screening tests for a woman to take, interpreting the test outcomes, and deciding whether or not a woman should be referred to a diagnostic test. Such decisions are currently guided by clinical practice guidelines (CPGs), which represent a one-size-fits-all approach that are designed to work well on average for a population, without guaranteeing that it will work well uniformly over that population. Since the risks and benefits of screening are functions of each patients features, personalized screening policies that are tailored to the features of individuals are needed in order to ensure that the right tests are recommended to the right woman. In order to address this issue, we present ConfidentCare: a computer-aided clinical decision support system that learns a personalized screening policy from the electronic health record (EHR) data. ConfidentCare operates by recognizing clusters of similar patients, and learning the best screening policy to adopt for each cluster. A cluster of patients is a set of patients with similar features (e.g. age, breast density, family history, etc.), and the screening policy is a set of guidelines on what actions to recommend for a woman given her features and screening test scores. ConfidentCare algorithm ensures that the policy adopted for every cluster of patients satisfies a predefined accuracy requirement with a high level of confidence. We show that our algorithm outperforms the current CPGs in terms of cost-efficiency and false positive rates

Applied screening tests for the detection of superior face recognition

open access articleIn recent years there has been growing interest in the identification of people with superior face recognition skills, for both theoretical and applied investigations. These individuals have mostly been identified via their performance on a single attempt at a tightly controlled test of face memory—the long form of the Cambridge Face Memory Test (CFMT+). The consistency of their skills over a range of tests, particularly those replicating more applied policing scenarios, has yet to be examined systematically. The current investigation screened 200 people who believed they have superior face recognition skills, using the CFMT+ and three new, more applied tests (measuring face memory, face matching and composite-face identification in a crowd). Of the sample, 59.5% showed at least some consistency in superior face recognition performance, although only five individuals outperformed controls on overall indices of target-present and target-absent trials. Only one participant outperformed controls on the Crowds test, suggesting that some applied face recognition tasks require very specific skills. In conclusion, future screening protocols need to be suitably thorough to test for consistency in performance, and to allow different types of superior performer to be detected from the outset. Screening for optimal performers may sometimes need to directly replicate the task in question, taking into account target-present and target-absent performance. Self-selection alone is not a reliable means of identifying those at the top end of the face recognition spectrum

Double screening

Attempts to modify gravity in the infrared typically require a screening mechanism to ensure consistency with local tests of gravity. These screening mechanisms fit into three broad classes; we investigate theories which are capable of exhibiting more than one type of screening. Specifically, we focus on a simple model which exhibits both Vainshtein and kinetic screening. We point out that due to the two characteristic length scales in the problem, the type of screening that dominates depends on the mass of the sourcing object, allowing for different phenomenology at different scales. We consider embedding this double screening phenomenology in a broader cosmological scenario and show that the simplest examples that exhibit double screening are radiatively stable.Comment: 36 pages, 5 figure

Efficient Candidate Screening Under Multiple Tests and Implications for Fairness

When recruiting job candidates, employers rarely observe their underlying skill level directly. Instead, they must administer a series of interviews and/or collate other noisy signals in order to estimate the worker's skill. Traditional economics papers address screening models where employers access worker skill via a single noisy signal. In this paper, we extend this theoretical analysis to a multi-test setting, considering both Bernoulli and Gaussian models. We analyze the optimal employer policy both when the employer sets a fixed number of tests per candidate and when the employer can set a dynamic policy, assigning further tests adaptively based on results from the previous tests. To start, we characterize the optimal policy when employees constitute a single group, demonstrating some interesting trade-offs. Subsequently, we address the multi-group setting, demonstrating that when the noise levels vary across groups, a fundamental impossibility emerges whereby we cannot administer the same number of tests, subject candidates to the same decision rule, and yet realize the same outcomes in both groups

High frequency of inadequate test requests for antiphospholipid antibodies in daily clinical practice

Abstract Background: We have empirically noted that many physicians routinely request anti-phospholipid antibodies (aPL) without a correct clinical indication. The aim of this study was to evaluate retrospectively whether aPL testing at our Thrombosis Centre was justified. Methods: Medical records from 520 subjects for aPL screening tests for various clinical conditions were reviewed. The aPL screening tests were: lupus anticoagulant (LA), anti-cardiolipin antibodies (aCL) and anti-β(2) glycoptotein I (aβ(2) GPI). Requests for aPL screening were divided into justified, potentially justified or not adequately justified. Results: aPL testing requests were considered justified in 358 (69%) patients, potentially justified in 66 (12.6%) and not adequately justified in 96 (18.4%). LA was positive in 65 (18%) of justified requests and in only one (1%) of the 96 potentially justified requests. None of the 66 not adequately justified for aPL testing was positive for LA. aβ(2) ..