| 1. |
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
- Dahl, F, et al.
(author)
-
Imaging single DNA molecules for high precision NIPT
- 2018
-
In: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 8:1, s. 4549-
-
Journal article (peer-reviewed)abstract
- Cell-free DNA analysis is becoming adopted for first line aneuploidy screening, however for most healthcare programs, cost and workflow complexity is limiting adoption of the test. We report a novel cost effective method, the Vanadis NIPT assay, designed for high precision digitally-enabled measurement of chromosomal aneuploidies in maternal plasma. Reducing NIPT assay complexity is achieved by using novel molecular probe technology that specifically label target chromosomes combined with a new readout format using a nanofilter to enrich single molecules for imaging and counting without DNA amplification, microarrays or sequencing. The primary objective of this study was to assess the Vanadis NIPT assay with respect to analytical precision and clinical feasibility. Analysis of reference DNA samples indicate that samples which are challenging to analyze with low fetal-fraction can be readily detected with a limit of detection determined at <2% fetal-fraction. In total of 286 clinical samples were analysed and 30 out of 30 pregnancies affected by trisomy 21 were classified correctly. This method has the potential to make cost effective NIPT more widely available with more women benefiting from superior detection and false positive rates.
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
- Astrom, M., et al.
(author)
-
Population health status based on the EQ-5D-Y-3L among adolescents in Sweden: Results by sociodemographic factors and self-reported comorbidity
- 2018
-
In: Quality of Life Research. - : Springer Science and Business Media LLC. - 0962-9343 .- 1573-2649. ; 27:11, s. 2859-2871
-
Journal article (peer-reviewed)abstract
- PurposeThe EQ-5D-Y-3L is a generic health-related quality of life (HRQoL) measure developed for youth from 8years old. The aim of this study is to present population health status, based on the EQ-5D-Y-3L, among adolescents in Sweden, by sex, age, self-reported comorbidity and parents' occupational status.MethodsData were obtained from a cross-sectional total survey among students, aged 13-18 years, in a Swedish County year 2014. The survey included EQ-5D-Y-3L, questions regarding self-reported health, disease, functional impairment and mental distress. Parents' occupational status was used as a proxy for socio-economic status.ResultsA total of 6574 participants answered all the EQ-5D-Y-3L dimensions (mean age was 15.9years, same proportion of boys and girls). Girls reported more problems than boys in the dimensions doing usual activities', having pain or discomfort' and feeling worried, sad or unhappy', and lower mean VAS score. Respondents with one or both parents unemployed reported more problems with usual activities, pain/discomfort and in the mood dimension than those with both parents employed. Those with comorbidity had in general more problems in all dimensions and lower mean VAS score. The highest impact on VAS score was found for adolescents who reported that they always felt depressed.ConclusionsSex, age, self-reported comorbidity and parents' occupational status were associated with HRQoL determined by the EQ-5D-Y-3L in the general population of adolescents. The ability of EQ-5D-Y-3L to distinguish adolescents' health status based on these factors confirms the instrument's usefulness in assessment of HRQoL and as guidance for prioritization.
|
|
