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Maternal Serum Screening for Down Syndrome: Effect of Different Set of Distribution Parameters on Efficacy and Reliability of System
Mohammad Rahbar,Hamed Yahyazade,Rana Amini
Research Journal of Biological Sciences , 2012, DOI: 10.3923/rjbsci.2010.395.399
Abstract: The researchers tried to use the result of multiple markers assays in maternal serum to establish a mathematical method for calculating the risk of carrying a fetus with Down syndrome. This screening method is dependent on distribution of few parameters. We investigated the effect of different set of parameters on screening system. The most popular protocol for triple marker screening of Down syndrome is based on multivariate gaussian distribution. This study has been applied in a private medical laboratory. The result of different set of distribution of parameters on efficacy and reliability of system is investigated by graphical display and simulation by monte carlo method. In some cases, different sets of parameters in protocols make calculated risk inappropriately different. In some ranges of biochemical markers, the behavior of system violates their general trends on risk calculation. We found inherent error in models. This could be explained by interaction and value of distribution of parameters. We show effect of distribution of parameters in mathematical model, estimate efficacy of system and also emphasize on quality of parameters.
Antenatal screening and the gendering of genetic responsibility
Kate Reed
Reproductive Health , 2007, DOI: 10.1186/1742-4755-4-8
Abstract: This qualitative study will be based on semi-structured interviews with twenty pregnant women and twenty male partners in the post-industrial city of Sheffield, UK. All interviews will be taped, transcribed and analysed thematically using NVIVO, a qualitative software package.The findings of this study have relevance to existing debates on the social and ethical implications of reproductive genetics. A better understanding of male and female perceptions of the screening process could improve guidance and practice in antenatal screening and genetic counselling. It will also inform and contribute to the development of theory on gender and genetic screening.Within the UK, antenatal blood tests are routinely offered to women in pregnancy during the first NHS dating scan at around 12 weeks gestation. At this time pregnant women are offered a range of tests which include screening for maternal diseases and screening for foetal health. These include tests that identify those who are affected by or at an increased risk of developing a genetic disorder. Such tests include haemoglobinopathy screening for genetic conditions such as sickle cell anaemia and thalassaemia [1]. Blood tests for the hormone human chorionic gonadotrophin (hCG), the protein alpha-feto (AFP) and the protein unconjugated oestriol (uE3) are also offered at this time [2]. This is often known as the 'triple test' and is used to estimate the risk of spina bifida, Down syndrome and anencephaly [3]. Screening takes place at the first dating appointment with the exception of the 'triple test' that takes place after week 14 of the pregnancy. The study on which this protocol is based will be concerned with both haemoglobinopathy screening and with the 'triple test'.During the screening process the emphasis is on testing women – male partners are tested only where a combined positive male and female test could detect foetal abnormality, such as sickle cell anaemia. Little is known about male partners' views and in
Quantitative Paradigm of Software Reliability as Content Relevance  [PDF]
Yuri Arkhipkin
Computer Science , 2008,
Abstract: This paper presents a quantitative approach to software reliability and content relevance definitions validated by the systems' potential reliability law.Thus it is argued for the unified math nature or quantitative paradigm of software reliability and content relevance.
Down syndrome screening methods in Iranian pregnant women  [PDF]
Azizeh Farshbaf Khalili,Mahnaz Shahnazi,Khadijeh Hajizadeh,Mahmoud Shekari Khaniani
Journal of Caring Sciences , 2012, DOI: 10.5681/jcs.2012.021
Abstract: Introduction: Down syndrome is one of the most prevalent genetic diseases. Screening methods for this syndrome are easy and safe and are recommended to all pregnant wom-en particularly mothers over 35 years of age. This study aimed to review the status of Down syndrome screening and related factors in Iranian pregnant women. Methods: This descriptive analytical study was carried out in 2011. It included 400 women who were randomly selected from those referring to Alzahra Hospital (Tabriz, Iran) during their third trimester of pregnancy. Data was collected through a question-naire whose reliability and validity have been approved. The data was analyzed by chi-square test in SPSS13. Results: The results showed that while 28 and 26 women imple-mented screening tests during the first and second trimesters, respectively, only 5 sub-jects benefited from both (integrated test). Chi-square test showed significant correla-tions between the implementation of screening methods and age, education level, in-come, and the location of prenatal care (p < 0.05). Conclusion: The findings of the present study showed women to poorly implement Down syndrome screening methods. Therefore, the necessity of providing appropriate educational programs for health staff and mothers seems undeniable. Moreover, paying attention to the related factors such as income, educational level, and adequate training of mothers during pregnancy is essential.
Better Than Their Reputation? On the Reliability of Relevance Assessments with Students  [PDF]
Philipp Schaer
Computer Science , 2012,
Abstract: During the last three years we conducted several information retrieval evaluation series with more than 180 LIS students who made relevance assessments on the outcomes of three specific retrieval services. In this study we do not focus on the retrieval performance of our system but on the relevance assessments and the inter-assessor reliability. To quantify the agreement we apply Fleiss' Kappa and Krippendorff's Alpha. When we compare these two statistical measures on average Kappa values were 0.37 and Alpha values 0.15. We use the two agreement measures to drop too unreliable assessments from our data set. When computing the differences between the unfiltered and the filtered data set we see a root mean square error between 0.02 and 0.12. We see this as a clear indicator that disagreement affects the reliability of retrieval evaluations. We suggest not to work with unfiltered results or to clearly document the disagreement rates.
Noninvasive screening tools for Down syndrome: a review  [cached]
Smith M,Visootsak J
International Journal of Women's Health , 2013,
Abstract: Meagan Smith, Jeannie Visootsak Emory University, Department of Human Genetics, Atlanta, GA, USA Abstract: Down syndrome is the leading cause of prenatal chromosome abnormalities, accounting for 53% of all reported chromosome conditions. Testing strategies, guidelines, and screening options have expanded from their conception in the 1970s, and now include such options as anatomical ultrasound, maternal serum screening, and noninvasive prenatal testing. This review summarizes all currently available noninvasive diagnostic techniques for the detection of Down syndrome. By understanding fully each technology and the possible alternatives, the physician will be able to provide their patients with all the information necessary to make an informed decision regarding their medical management. Keywords: Down syndrome, noninvasive screening, diagnostic techniques
First Trimester Ultrasound as a Screening for Down Syndrome
M. Kalantari
Iranian Journal of Radiology , 2005,
Abstract: Introduction & Background: Screening for Down syndrome is one of the oldest and most commonly used is-sues of prenatal screening. The aim of the screening is to select those cases who are at high risk for Down syn-drome and justify an invasive prenatal diagnostic procedure on them. The most significant advancement in first trimester ultrasound screening has been the recognition of nuchal translucency (NT) as a potent marker for fetal aneuploidy. NT test is the most effective prenatal screening test to identify those at risk for trisomy 21. If NT levels increase above the 95th percentile (up to 3.4mm), the chance for a healthy baby will be decreased remarkably by combining sonographic findings and measurements of biochemical markers (Free BHCG, PAPP-A). An improvement in prenatal screening for chromosomal defects has also been achieved in recent years. These techniques altogether provide a detection rate of 90 % for the most important chromosomal anomaly (i.e Down syndrome) with the false positive rate of 5%. Meamwhile in cases of trisomy 21, nasal bone is not visible at the end of first trimester. Combining the delay in nasal bone formation with other first trimes-ter screenings, detection rate of trisomy 21 may increase to 97% and the false positive rate decline to 3%.
Noninvasive screening tools for Down syndrome: a review
Smith M, Visootsak J
International Journal of Women's Health , 2013, DOI: http://dx.doi.org/10.2147/IJWH.S31183
Abstract: ninvasive screening tools for Down syndrome: a review Review (548) Total Article Views Authors: Smith M, Visootsak J Published Date March 2013 Volume 2013:5 Pages 125 - 131 DOI: http://dx.doi.org/10.2147/IJWH.S31183 Received: 24 December 2012 Accepted: 30 January 2013 Published: 06 March 2013 Meagan Smith, Jeannie Visootsak Emory University, Department of Human Genetics, Atlanta, GA, USA Abstract: Down syndrome is the leading cause of prenatal chromosome abnormalities, accounting for 53% of all reported chromosome conditions. Testing strategies, guidelines, and screening options have expanded from their conception in the 1970s, and now include such options as anatomical ultrasound, maternal serum screening, and noninvasive prenatal testing. This review summarizes all currently available noninvasive diagnostic techniques for the detection of Down syndrome. By understanding fully each technology and the possible alternatives, the physician will be able to provide their patients with all the information necessary to make an informed decision regarding their medical management.
Improving Electronic Sensor Reliability by Robust Outlier Screening  [PDF]
Manuel J. Moreno-Lizaranzu,Federico Cuesta
Sensors , 2013, DOI: 10.3390/s131013521
Abstract: Electronic sensors are widely used in different application areas, and in some of them, such as automotive or medical equipment, they must perform with an extremely low defect rate. Increasing reliability is paramount. Outlier detection algorithms are a key component in screening latent defects and decreasing the number of customer quality incidents (CQIs). This paper focuses on new spatial algorithms (Good Die in a Bad Cluster with Statistical Bins (GDBC SB) and Bad Bin in a Bad Cluster (BBBC)) and an advanced outlier screening method, called Robust Dynamic Part Averaging Testing (RDPAT), as well as two practical improvements, which significantly enhance existing algorithms. Those methods have been used in production in Freescale ? Semiconductor probe factories around the world for several years. Moreover, a study was conducted with production data of 289,080 dice with 26 CQIs to determine and compare the efficiency and effectiveness of all these algorithms in identifying CQIs.
Test-retest reliability of the Purdue Pegboard test for chidren with Down syndrome  [cached]
Shahla Rafiee,Ghorban Taghizadeh,Mona Edrese,Maede Ashrafie
Koomesh , 2011,
Abstract: Introduction: Down syndrome is considered as one of the most important causes of disability. In children with Down syndrome, compliance with poor motor coordination has a considerable effect on different motor skills including dexterity. Purdue Pegboard test is one of the tools used in occupational therapy to assess fine motor skills of upper extremity. The purpose of this study was to determine the test-retest reliability and practice effects of the Purdue Pegboard in children with Down syndrome. Materials and Methods: Twenty-four children with Down syndrome aging 7-14 (mean:9/7±2/7) of both sexes were non-randomly selected from rehabilitation clinics and hospitals of Tehran. A demographic questionnaire was used for documenting participant s general data and the Purdue Pegboard test and a timer were used to determine the reliability. Each subtest was administered three times in a row. The time interval between test and retest was one week. Results: The relative reliability in repeated measures was above 80% in different items of Purdue Pegboard test in single and mean of testes, thus it indicates an optimum reliability. The absolute reliability was lower than 10% of maximum obtained scores at each subtest in one and three trial of test that indicates acceptable errors of measurement. Conclusion: The results of the present study indicate that Purdue Pegboard test is enough reliable in one and three trials for evaluating a manual dexterity of children with Down syndrome.
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