1,122 research outputs found
Shooting a moving target. Researching autism genes: An interview study with professionals
No full textGiven the wide variety of the phenotype, the uncertain genetic origins and the discussions surrounding the status of autism itself, genetic research on autism genes generates specific ethical questions that are not completely analogous to the ethical issues of genetic research in general.sponsorship: This work was supported by an 'Opening the Future' grant donated by the Leuven University Fund. Kristien Hens is supported by a Belgian Federal Science Policy Office (BELSPO) 'Back to Belgium' grant. Hilde Peeters is a Senior Clinical Investigator of The Research Foundation - Flanders (FWO). ('Opening the Future' grant - Leuven University Fund, Belgian Federal Science Policy Office (BELSPO) 'Back to Belgium' grant)status: Publishe
Are couples making informed choices when opting for reproductive genetic carrier screening?
No full textResearch Fund Flanders (FWO) [G094518N
Are couples making informed choices when opting for reproductive genetic carrier screening?
No full textResearch Fund Flanders (FWO) [G094518N
Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium
No full textReproductive genetic carrier screening (RGCS) allows for the identification of couples who have an increased likelihood of conceiving a child with a particular autosomal recessive or X-linked condition. The aim of this study was to assess the level of satisfaction, anxiety, knowledge retention, psychosocial and counseling-related aspects among couples who chose to have RGCS. Participants were initially informed about their screening results by telephone. After obtaining a written report of test results, participants were asked to complete an individual self-administered questionnaire. All participants (n = 67) felt they had enough information to make an informed choice. None of the participants regretted their choice to have RGCS. Test results were most often shared with parents (61%) or siblings (37%). Our findings demonstrate that the information/counseling and reporting strategy that was used in the context of this study led to high participant satisfaction, an increase in knowledge over time and favorable psychosocial and counseling-related outcomes.sponsorship: Research Fund Flandersstatus: Publishe
The East Flanders Prospective Twin Survey (EFPTS): 55 Years Later
No full textThe East Flanders Prospective Twin Survey (EFPTS) is a registry of multiple births in the province of East Flanders, Belgium. Since its start in 1964, over 10,000 twin-pairs have been registered. EFPTS has several unique features: it is population-based and prospective, with the possibility of long-term follow-up; the twins (and higher order multiple births) are recruited at birth; basic perinatal data are recorded; chorion type and zygosity are established; since 1969, placental biopsies have been taken and frozen at -20°C for future research. Since its origin, the EFPTS has included placental data and allows differentiation of three subtypes of monozygotic twins based on the time of the initial zygotic division: the dichorionic-diamniotic pairs (early, with splitting before the fourth day after fertilization), the monochorionic-diamniotic pairs (intermediate, splitting between the fourth- and the seventh-day postfertilization) and the monochorionic-monoamniotic pairs (late, splitting after the eighth day postfertilization). Studies can be initiated taking into account primary biases, those originating 'in utero'. Such studies could throw new light on the consequences of early embryological events and the gene-environment interactions as far as periconceptional and intrauterine environment are concerned.sponsorship: We thank all families of twins and triplets who took part in different studies. These research projects were aided by grants coming mainly from the Fund for Scientific Research - Flanders, the Dutch Foundation for Scientific Research, and the Marguerite-Marie Delacroix Foundation. The TwinssCan project is part of the European Community's Seventh Framework Program under grant agreement No. HEALTH-F2-2009-241909 (Project EU-GEI). (Fund for Scientific Research - Flanders, Dutch Foundation for Scientific Research, Marguerite-Marie Delacroix Foundation, European Community's Seventh Framework Program|HEALTH-F2-2009-241909)status: Publishe
Exploring informed choice in preconception reproductive genetic carrier screening by using a modified Multidimensional Measure of Informed Choice
No full textOBJECTIVES: To explore informed choice in reproductive genetic carrier screening (RGCS). METHODS: Women visiting a gynaecologist practice in Flanders (Belgium) were asked to consider participation in a study where RGCS was offered for free to them and their male partner. A modified Multidimensional Measure of Informed Choice was used to determine whether couples who opted for RGCS made an informed choice. In addition, we assessed risk perception, feelings towards RGCS, anxiety and decisional conflict. RESULTS: Most participants (82 %, n = 63/77) made an informed choice with regard to RGCS according to our modified MMIC. Thirteen participants made an uninformed choice due to insufficient knowledge and one participant because of insufficient knowledge and value-inconsistency. Anxiety scores were elevated for three participants. Two participants presented with decisional conflict. CONCLUSION: Our results show high rates of informed choice among non-pregnant couples who were offered RGCS in a research study and received up to 30 min of pre-test counseling. PRACTICE IMPLICATIONS: Limited resources outside a research context may impact informed choice. Pre-test counselling initiatives for RGCS should ideally be organized in such a way that information can be provided at multiple time points to avoid information overload and to allow for a reflection period.sponsorship: This project was financially supported by the Research Fund Flanders (FWO) (grant number G094518N). (Research Fund Flanders (FWO), G094518N)status: Publishe
Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive-aged women in Flanders (Belgium)
No full textReproductive genetic carrier screening (RGCS) allows to identify couples who have an increased likelihood of conceiving a child affected with an autosomal recessive or X-linked monogenic condition. Multiple studies have reported on a wide and fragmented set of reasons to accept or decline RGCS. Only a few studies have been performed to assess the uptake of RGCS. Nonpregnant women visiting their gynecologist were invited to complete a questionnaire assessing perceived susceptibility, the acceptability of offering RGCS, attitudes, the intention to participate in RGCS, reasons to accept or decline RGCS, and sociodemographic characteristics. Women who showed the intention to have RGCS were asked to consider a free RGCS offer. Most women (n = 127) were between 25 and 34 years old (60%), in a relationship (91%), and wanted to have children (65%). Study participants had positive attitudes towards RGCS and the intention to consider RGCS in the future. Reasons to accept RGCS were being able to share genetic information with children or relatives (n = 104/127, 82%), to prevent the birth of a child affected with a hereditary condition (n = 103/127, 81%), and/or to know the chance of conceiving a child with a hereditary condition (n = 102/127, 80%). Reasons for declining RGCS were the possible concerns that could arise when receiving test results (n = 27/127, 21%), having no family history of hereditary disorders (n = 19/127, 15%), and not wanting to take action based on test results (n = 13/127, 10%). Among test intenders that met the inclusion criteria, 53% decided to participate in RGCS together with their male reproductive partner. More in-depth research on the decision-making process behind the choice to accept or decline an RGCS offer would be highly valuable to make sure couples are making informed reproductive choices.sponsorship: This project was financially supported by the Research Fund Flanders (FWO). (Research Fund Flanders (FWO))status: Publishe
A de-novo 15q24.2 deletion involving <i>SIN3A</i> is associated with emotional, behavioural, motor problems and hypersensitivity in a girl with above average intelligence and typical facial features.
No full textstatus: Publishe
Caput mundi: Rome as Center in Roman Representation and Construction of Space
No full textThis is the author accepted manuscript. The final version is available from Peeters Publishers via the DOI in this record
De genetische architectuur van normale faciale variatie gerelateerd aan schisis
No full textOrofacial clefting is the most frequent facial congenital malformation, but its etiology remains poorly understood. To unravel the genetic architecture of nonsyndromic cleft lip +/- cleft palate (NSCL/P), it can be useful to focus on the phenotype of non-affected first-degree relatives of these patients since they have a high chance to carry susceptibility genes for the condition. Recently, we confirmed the presence of specific facial characteristics in non-affected relatives of patients with NSCL/P (Roosenboom et al. 2015).
In this project, we will use innovative 3D morphometric analytic techniques and large databases of 3D facial images with corresponding DNA to raise insight into the genetic architecture of both NSCL/P and normal facial variation.
After fine-tuning the definition of endophenotypic facial characteristics for NSCL/P in a larger cohort of relatives, we will associate these endophenotypic features to genes with known involvement in CL/P. Next, we will study if genes that are associated with the endophenotype also play a role in normal facial variation in the general population. In a final stage, the presence of facial endophenotypic features in the large datasets of normal facial variation will serve as input for a GWAS on the corresponding DNA, which may lead to the identification of new candidate genes for NSCL/P. Subsequently, we will verify these newly identified SNPs in a CL/P patient cohort in order to test their true involvement.
Roosenboom, J., Saey, I., Peeters, H., Devriendt, K., Claes, P. & Hens, G. (2015), 'Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate.'. BioMed Research International, vol. 2015, Chapter 10, pp. 1-8.status: Publishe
- …
