Preconceptional Carrier Couple Screening for Cystic fibrosis and Hemoglobinopathies : An ancestry-based offer in a multi-ethnic society

Cornel, M.C. [Promotor]Kate, L.P. ten [Promotor]Henneman, L. [Copromotor

Preconceptional genetic carrier testing and the commercial offer directly-to-consumers

Recently, a number of commercial companies are offering preconceptional carrier tests directly-to-consumers. This offer raises a number of concerns and issues above and beyond those encountered with preconceptional tests offered within the traditional health care setting. In order to bring some of these issues to light and to initiate dialogue on this topic, this article discusses the following issues: the current offer of preconceptional carrier tests (until the end of 2010) through online commercial companies; the implications for the informed consent procedure and the need for good information; the need for medical supervision and follow-up; and the appropriate use of existing resources. The article concludes with some reflections about the potential sustainability of the offer of preconceptional carrier tests directly-to-consumers

Raising awareness of carrier testing for hereditary haemoglobinopathies in high-risk ethnic groups in the Netherlands: a pilot study among the general public and primary care providers

0.05). 191 surveys were collected from general practitioners or midwives. Their attitude towards the education programme for high-risk ethnic groups was positive, yet they did not show strong intention to effectuate carrier testing of their patients on the basis of ethnicity. The main factor which explained their (lack of) intention was social norm, i.e. their perception of negative peer opinion (41% variance explained). The majority of primary health care providers felt that policy change was unnecessary. CONCLUSION: The "infotainment" programme may have a positive effect on people from high-risk groups, but informed general practitioners and midwives were reluctant to facilitate their patients' getting tested. Additional initiatives are needed to motivate primary care providers to facilitate haemoglobinopathy carrier testing for their patients from high-risk background

Desperately constructing ethnic audiences: Anti-immigration discourses and minority audience research in the Netherlands

This article examines how minority ethnic audiences are measured, and thus constructed, in the Netherlands today. The analysis shows that this process is tightly woven into the dominant assimilationist and neoliberal discourse. This discourse portrays specific minority groups as deviant in relation to an essentialized notion of Dutchness. Furthermore, it presents social inclusion as an opportunity that is limited to well-adjusted, profitable consumers. Different attempts to represent minority audiences – including efforts to promote a more just minority representation in Dutch media – are compelled to accommodate to this dominant discourse. The article underscores the limited scope for contesting current hegemonic representations of minority groups and national belonging in the Netherlands

An unusual case of unilateral vascular hypoplasia in an adult patient: late diagnosis of PHACE syndrome

A case of unilateral vascular hypoplasia is presented. A female patient was born with a complex aortic arch anatomy - a double aortic arch with an interrupted left arch. Surgical correction was performed at the age of 3 months. The patient was also noted to have had an ipsilateral large infantile haemangioma. These findings raised the suspicion of the diagnosis of PHACE syndrome. PHACE syndrome is an acronym for Posterior fossa abnormalities, Haemangioma, Arterial anomalies, Cardiac anomalies and Eye anomalies. Future research is needed to elucidate the underlying pathophysiology in PHACE syndrome.Thoracic Surger

An unusual case of unilateral vascular hypoplasia in an adult patient: late diagnosis of PHACE syndrome

A case of unilateral vascular hypoplasia is presented. A female patient was born with a complex aortic arch anatomy - a double aortic arch with an interrupted left arch. Surgical correction was performed at the age of 3 months. The patient was also noted to have had an ipsilateral large infantile haemangioma. These findings raised the suspicion of the diagnosis of PHACE syndrome. PHACE syndrome is an acronym for Posterior fossa abnormalities, Haemangioma, Arterial anomalies, Cardiac anomalies and Eye anomalies. Future research is needed to elucidate the underlying pathophysiology in PHACE syndrome. Developmen

Green Plants in the Red: A Baseline Global Assessment for the IUCN Sampled Red List Index for Plants

Plants provide fundamental support systems for life on Earth and are the basis for all terrestrial ecosystems; a decline in plant diversity will be detrimental to all other groups of organisms including humans. Decline in plant diversity has been hard to quantify, due to the huge numbers of known and yet to be discovered species and the lack of an adequate baseline assessment of extinction risk against which to track changes. The biodiversity of many remote parts of the world remains poorly known, and the rate of new assessments of extinction risk for individual plant species approximates the rate at which new plant species are described. Thus the question ‘How threatened are plants?’ is still very difficult to answer accurately. While completing assessments for each species of plant remains a distant prospect, by assessing a randomly selected sample of species the Sampled Red List Index for Plants gives, for the first time, an accurate view of how threatened plants are across the world. It represents the first key phase of ongoing efforts to monitor the status of the world’s plants. More than 20% of plant species assessed are threatened with extinction, and the habitat with the most threatened species is overwhelmingly tropical rain forest, where the greatest threat to plants is anthropogenic habitat conversion, for arable and livestock agriculture, and harvesting of natural resources. Gymnosperms (e.g. conifers and cycads) are the most threatened group, while a third of plant species included in this study have yet to receive an assessment or are so poorly known that we cannot yet ascertain whether they are threatened or not. This study provides a baseline assessment from which trends in the status of plant biodiversity can be measured and periodically reassessed

Citizen science and the role of natural history museums

Citizen science, the active participation of the public in scientific research projects, is a rapidly expanding field in open science and open innovation. It provides an integrated model of public knowledge production and engagement with science. As a growing worldwide phenomenon, it is invigorated by evolving new technologies that connect people easily and effectively with the scientific community. Catalysed by citizens’ wishes to be actively involved in scientific processes, as a result of recent societal trends, it also offers contributions to the rise in tertiary education. In addition, citizen science provides a valuable tool for citizens to play a more active role in sustainable development. This book identifies and explains the role of citizen science within innovation in science and society, and as a vibrant and productive science-policy interface. The scope of this volume is global, geared towards identifying solutions and lessons to be applied across science, practice and policy. The chapters consider the role of citizen science in the context of the wider agenda of open science and open innovation, and discuss progress towards responsible research and innovation, two of the most critical aspects of science today

Detection of submicroscopic chromosomal abnormalities using microarray analysis:The value and pitfalls in prenatal and postnatal diagnosis

Chromosomal microarray enables identifying small genomic deletions and duplications that are not routinely seen on karyotyping. Microarray analysis therefore has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children in the Netherlands since 2008. When invasive prenatal diagnosis is indicated, because of ultrasound abnormalities and/or an increased risk for common aneuploidies (trisomy 21, 18 or 13) at first trimester screening, microarray analysis instead of conventional karyotyping will be applied when targeted molecular rapid aneuploidy detection reveals no abnormalities. Microarray analysis provides around 12-15% extra diagnosis in cases of mental retardation and/or structural abnormalities and it can provide 6% extra diagnosis in prenatal samples with a normal karyotype. Besides finding evident causative abnormalities, microarray analysis increases the detection rates of VOUS (variants of unknown significance) that, in particular during a pregnancy, induce emotional burden en counselling difficulties. Furthermore, CNVs that are pathogenic but not related with the phenotype (e.g. deletion of an oncogene) may complicate pretest and posttest counselling as well, since these findings may have health consequences for both patient and family members. Clinicians who request microarray analysis should be aware of these implications. In this paper, two prenatal and four postnatal case reports illustrate the ability to identify more clinically relevant abnormalities, but also limitations and coincidental findings in microarray analysis.</p

Predicting the development of stress urinary incontinence 3 years after hysterectomy

We aimed to develop a prediction rule to predict the individual risk to develop stress urinary incontinence (SUI) after hysterectomy. Prospective observational study with 3-year follow-up among women who underwent abdominal or vaginal hysterectomy for benign conditions, excluding vaginal prolapse, and who did not report SUI before surgery (n = 183). The presence of SUI was assessed using a validated questionnaire. Significant prognostic factors for de novo SUI were BMI (OR 1.1 per kg/m(2), 95% CI 1.0-1.2), younger age at time of hysterectomy (OR 0.9 per year, 95% CI 0.8-1.0) and vaginal hysterectomy (OR 2.3, 95% CI 1.0-5.2). Using these variables, we developed the following rule to predict the risk of developing SUI: 32 + BMI-age + (7.5 × route of surgery). We defined a prediction rule that can be used to counsel patients about their individual risk on developing SUI following hysterectom