| 1. |
- Georgsson, Susanne, et al.
(författare)
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Knowledge and attitudes regarding non-invasive prenatal testing (NIPT) and preferences for risk information among high school students in Sweden
- 2017
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Ingår i: Journal of Genetic Counseling. - New York : Human Sciences Press. - 1059-7700 .- 1573-3599. ; 26:3, s. 447-454
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Tidskriftsartikel (refereegranskat)abstract
- Non-invasive prenatal testing (NIPT) was recently introduced for prenatal testing of genetic disorders. Cell-free fetal DNA is present in maternal blood during pregnancy and enables detection of fetal chromosome aberrations in a maternal blood sample. The public perspective to this new, simple method has not been illuminated. The views of young people (i.e. future parents) are important to develop suitable counseling strategies regarding prenatal testing. The aim was to explore Swedish high school students' attitudes, knowledge and preferences regarding NIPT. A questionnaire was completed by 305 students recruited from one high school in Stockholm, November and December 2014. Most students (80 %) considered prenatal testing as good. The majority (65 %) was positive or very positive towards NIPT and 62 % stated that they potentially would like to undergo the test if they or their partner was pregnant. The vast majority (94 %) requested further information about NIPT. Most students (61 %) preferred verbal information, whereas 20 % preferred information via the Internet. The majority of the high school students was positive towards prenatal testing and most was positive towards NIPT. Further, information was requested by the vast majority before making a decision about NIPT. Most of the students preferred verbal information and to a lesser extent information via the Internet. The attitudes, knowledge and preferences for risk information concerning NIPT in young adults are important, in order to increase knowledge on how to educate and inform future parents.
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| 2. |
- A Hulten, Maj, et al.
(författare)
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On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model
- 2010
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Ingår i: Reproduction. - 1470-1626 .- 1476-3990. ; 139:1, s. 1-9
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Forskningsöversikt (refereegranskat)abstract
- We have recently documented that trisomy 21 mosaicism is common in human foetal ovaries. On the basis of this observation we propose that the maternal age effect in Down syndrome (DS) is caused by the differential behaviour of trisomy 21 in relation to disomy 21 oocytes during development from foetal life until ovulation in adulthood. in particular, we suggest that trisomy 21 oocytes, lagging behind those that are disomic, may escape the timed pruning of the seven million in foetal life to the 300-400 finally selected for ovulation. The net effect of this preferential elimination will be an accumulation of trisomy 21 oocytes in the ovarian reserve of older women. We here highlight the implications of this Oocyte Mosaicism Selection (OMS) model with respect to the prevalent view that the maternal age effect is complex, dependent on many different biological and environmental factors. We examine conclusions drawn from recent large-scale studies in families, tracing DNA markers along the length of chromosome 21q between parents and DS children, in comparison to the OMS model. We conclude that these family linkage data are equally compatible with the maternal age effect originating from the accumulation of trisomy 21 oocytes with advancing maternal age. One relatively straightforward way to get to grips with what is actually going on in this regard would be to compare incidence of trisomy 21 oocytes (and their pairing configurations) in foetal ovaries with that in oocytes at the meiosis I stage from adult women.
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| 3. |
- Eriksson, Erik, et al.
(författare)
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Perceived Housing in Relation to Retirement and Relocation : A Qualitative Interview Study among Older Adults
- 2022
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Ingår i: International Journal of Environmental Research and Public Health. - : MDPI AG. - 1661-7827 .- 1660-4601. ; 19:20
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Tidskriftsartikel (refereegranskat)abstract
- As people age the home environment becomes increasingly important. Retirement commonly leads to spending more time in one’s home, and relocating from your own home in older age could be associated with reduced health or wellbeing. The relationship between home and person is complex and perceived aspects of one’s housing such as social, emotional and cognitive ties are considered important factors for health and wellbeing. However, little is known about how perceived aspects of the home change in relation to retirement and relocation. This paper used Situational Analysis to explore, via situational mapping, how community dwelling older adults (aged 60–75) perceived their housing situation in relation to retirement and relocation. The results suggest complex relations between relocation/retirement and perceived housing, and between different aspects of perceived housing. Furthermore, the results suggest that the relationship between life transitions and perceived housing can be seen as bi-directional, where different life transitions affect aspects of perceived housing, and that perceived housing affects (decisions for) relocation. The results suggest complex relations between retirement and relocation, as well as other life transitions, and perceived aspects of one’s housing. It is important to consider these interactions to understand factors that affect health and wellbeing in older adults.
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| 4. |
- Gunnarsson, Carina, et al.
(författare)
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Optimerad lagring av biomassa : en strategisk innovationsagenda
- 2016
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- I dag finns stor kunskap inom området lagring av biomassa, även om kunskapen i delar är fragmenterad. Inom energiområdet finns problem med både lagringsförluster och arbetsmiljö. Vid lagring av grödor till foder och livsmedel är bibehållen kvalitet hos biomassan under lagring en förutsättning, och mycket forskning och utveckling har bedrivits inom detta område. Genom samverkan mellan olika områden skapar vi förutsättningar att tänka i nya banor och öka möjligheterna för en optimerad lagring av biomassa. Arbetet med agendan har gett nya gränsöverskridande diskussioner och samarbeten. Med en förväntad kraftigt ökad efterfrågan och därmed konkurrens om biomassa blir effektivitet och hållbarhet nyckelfaktorer för fortsatt god tillgång. Kontinuerliga förbättringar i alla led av tillförselkedjan är nödvändiga för att hantera dessa i grunden positiva marknadsförändringar. Ett billigare och mer homogent bio-bränsle från jord- och skogsbruk leder till ökad konkurrenskraft gentemot andra idag billigare bränslen. Vid biobaserad värme- och kraftvärmeproduktion står bränslet för en av de största kostnadsposterna, vilket gör hantering och lagring med låga förluster högt prioriterat. Biobränslen från jord- och skogsbruk har en hög fukthalt vid skörd, vilket innebär att de har låg lagringsstabilitet. För att få ned kostnaderna för hantering och lagring, och kunna leverera efterfrågade kvaliteter och därmed öka bio-bränslenas konkurrenskraft, behövs mer kunskap om vad som händer med bränslet under olika lagringsförhållanden med olika lagrings- och hanteringsmetoder. Grundläggande och fördjupade kunskaper för att bedöma lagringsstabiliten för biomassa, framför allt livsmedelsbaserade såsom spannmål och rapsfrö, finns och är helt nödvändig för att garantera livsmedelssäkerhet. Dessa erfarenheter kan användas för att öka kunskapen om lagringsstabilitet och lagringsförluster hos biomassa som helhet. Denna agenda har tagits fram i samverkan mellan forskare från jord- och skogsbruk samt representanter från råvaruproducenter och energibolag som slutanvändare. Agendans syfte är att skapa ett bra utgångs-läge för en effektivare hantering av biomassa genom kunskapsöverföring mellan branscher. Agendans mål är ta fram forskningsbehov för utveckling och innovationer inom området som ska leda till effektiv och kvalitetssäkrad hantering av biomassa. Fokus är användning av biomassa inom energisektorn. Agendan avgränsas till att omfatta primära och sekundära oförädlade biobränslen från skogsbruk och jordbruk samt återvunna trädbränslen för värme- och kraftvärmeproduktion för anläggningar större än 1 MW. Vår vision är att använda biobränslets fulla potential genom kontrollerad lagring med låga förluster som ger effektiva och lönsamma leveranser med förutsägbar och homogen kvalitet utan hälsorisker. Vid två workshops på JTI i Uppsala träffades deltagarna för att identifiera kunskapsluckor, forskningsbehov och aktiviteter. För att inkludera synpunkter från fler aktörer genomfördes telefonintervjuer med ytterligare personer med koppling till biomassalagring.
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| 5. |
- Howard, Heidi Carmen, et al.
(författare)
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Mapping uncertainty in genomics
- 2018
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Ingår i: Journal of Risk Research. - : ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD. - 1366-9877 .- 1466-4461. ; 21:2, s. 117-128
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Tidskriftsartikel (refereegranskat)abstract
- The relatively novel and dynamic science of genomics holds many unknowns for stakeholders, and in particular for researchers and clinicians, as well as for participants and patients. At a time when many authors predict a future in which genomic medicine will be the norm, it is particularly relevant to discuss the unknowns surrounding genetics and genomics, including the notions of risk and uncertainty. This article will present a discussion regarding the uncertainty pertaining specifically to high throughput sequencing approaches, including the topic of incidental findings. This discussion will be guided by a taxonomy of uncertainty conceptualised around three areas of uncertainty: the source of uncertainty, the issues of uncertainty and the loci of uncertainty. This taxonomy can be used as a tool by all stakeholders involved in genomics to help further understand and anticipate uncertainties in genomics. Furthermore, to better contextualize this information, and also because this contribution is born out of an international project titled Mind the Risk', which addresses risk information in genetics and genomics from many different disciplinary perspectives, another aim of this article is to briefly present the basic issues pertaining to the unknowns, risks, and uncertainties of genetics as well as genomics for an audience of non-geneticists. Ultimately, the mapping out of uncertainty in genomics should allow for a better characterization of the uncertainty and consequently for a better management and communication of these uncertainties to end-users (research participants and patients).
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| 6. |
- Hultén, Maj A, et al.
(författare)
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Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?
- 2010
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Ingår i: CURRENT GENOMICS. - : Bentham Science Publishers Ltd. - 1389-2029 .- 1875-5488. ; 11:6, s. 409-419
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Tidskriftsartikel (refereegranskat)abstract
- It is well known that varying degrees of mosaicism for Trisomy 21, primarily a combination of normal and Trisomy 21 cells within individual tissues, may exist in the human population. This involves both Trisomy 21 mosaicism occurring in the germ line and Trisomy 21 mosaicism documented in different somatic tissues, or indeed a combination of both in the same subjects. Information on the incidence of Trisomy 21 mosaicism in different tissue samples from people with clinical features of Down syndrome as well as in the general population is, however, still limited. One of the main reasons for this lack of detailed knowledge is the technological problem of its identification, where in particular low grade/cryptic Trisomy 21 mosaicism, i.e. occurring in less than 3-5% of the respective tissues, can only be ascertained by fluorescence in situ hybridization (FISH) methods on large cell populations from the different tissue samples. In this review we summarize current knowledge in this field with special reference to the question on the likely incidence of germinal and somatic Trisomy 21 mosaicism in the general population and its mechanisms of origin. We also highlight the reproductive and clinical implications of this type of aneuploidy mosaicism for individual carriers. We conclude that the risk of begetting a child with Trisomy 21 Down syndrome most likely is related to the incidence of Trisomy 21 cells in the germ line of any carrier parent. The clinical implications for individual carriers may likewise be dependent on the incidence of Trisomy 21 in the relevant somatic tissues. Remarkably, for example, there are indications that Trisomy 21 mosaicism will predispose carriers to conditions such as childhood leukemia and Alzheimers Disease but there is on the other hand a possibility that the risk of solid cancers may be substantially reduced.
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| 7. |
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| 8. |
- Hulten, Maj A., et al.
(författare)
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On the paternal origin of trisomy 21 Down syndrome
- 2010
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Ingår i: Molecular Cytogenetics. - London, UK : BioMed Central (BMC). - 1755-8166. ; 3, s. 4-
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Tidskriftsartikel (refereegranskat)abstract
- Background: Down syndrome (DS), characterized by an extra free chromosome 21 is the most common genetic cause for congenital malformations and learning disability. It is well known that the extra chromosome 21 originates from the mother in more than 90% of cases, the incidence increases with maternal age and there is a high recurrence in young women. In a previous report we have presented data to indicate that maternal trisomy 21 (T21) ovarian mosaicism might provide the major causative factor underlying these patterns of DS inheritance. One important outstanding question concerns the reason why the extra chromosome 21 in DS rarely originates from the father, i.e. in less than 10% of T21 DS cases. We here report data indicating that one reason for this parental sex difference is a very much lower degree of fetal testicular in comparison to ovarian T21 mosaicism. Results: We used fluorescence in situ hybridisation (FISH) with two chromosome 21-specific probes to determine the copy number of chromosome 21 in fetal testicular cell nuclei from four male fetuses, following termination of pregnancy for a non-medical/social reason at gestational age 14-19 weeks. The cells studied were selected on the basis of their morphology alone, pending immunological specification of the relevant cell types. We could not detect any indication of testicular T21 mosaicism in any of these four male fetuses, when analysing at least 2000 cells per case (range 2038-3971, total 11.842). This result is highly statistically significant (p < 0.001) in comparison to the average of 0.54% ovarian T21 mosaicism (range 0.20-0.88%) that we identified in eight female fetuses analysing a total of 12.634 cells, as documented in a previous report in this journal. Conclusion: Based on these observations we suggest that there is a significant sex difference in degrees of fetal germ line T21 mosaicism. Thus, it would appear that most female fetuses are T21 ovarian mosaics, while in sharp contrast most male fetuses may be either very low grade T21 testicular mosaics or they may be non-mosaics. We further propose that this sex difference in germ line T21 mosaicism may explain the much less frequent paternal origin of T21 DS than maternal. The mechanisms underlying the DS cases, where the extra chromosome 21 does originate from the father, remains unknown and further studies in this respect are required.
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| 9. |
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| 10. |
- Iwarsson, Erik, et al.
(författare)
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Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis
- 2017
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Ingår i: Acta Obstetricia et Gynecologica Scandinavica. - : WILEY-BLACKWELL. - 0001-6349 .- 1600-0412. ; 96:1
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Forskningsöversikt (refereegranskat)abstract
- IntroductionThe aim of this study was to review the performance of non-invasive prenatal testing (NIPT) for detection of trisomy 21, 18 and 13 (T21, T18 and T13) in a general pregnant population as well as to update the data on high-risk pregnancies. Material and methodsSystematic review and meta-analysis. PubMed, Embase and the Cochrane Library were searched. Methodological quality was rated using QUADAS and scientific evidence using GRADE. Summary measures of diagnostic accuracy were calculated using a bivariate random-effects model. ResultsIn a general pregnant population, there is moderate evidence that the pooled sensitivity is 0.993 (95% CI 0.955-0.999) and specificity was 0.999 (95% CI 0.998-0.999) for the analysis of T21. Pooled sensitivity and specificity for T13 and T18 was not calculated in this population due to the low number of studies. In a high-risk pregnant population, there is moderate evidence that the pooled sensitivities for T21 and T18 are 0.998 (95% CI 0.981-0.999) and 0.977 (95% CI 0.958-0.987) respectively, and low evidence that the pooled sensitivity for T13 is 0.975 (95% CI 0.819-0.997). The pooled specificity for all three trisomies is 0.999 (95% CI 0.998-0.999). ConclusionsThis is the first meta-analysis using GRADE that shows that NIPT performs well as a screen for trisomy 21 in a general pregnant population. Although the false positive rate is low compared with first trimester combined screening, women should still be advised to confirm a positive result by invasive testing if termination of pregnancy is under consideration.
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