Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Sam Riedijk"'
Autor:
Jennifer Hammond, Jasmijn E Klapwijk, Sam Riedijk, Stina Lou, Kelly E Ormond, Ida Vogel, Lisa Hui, Emma-Jane Sziepe, James Buchanan, Charlotta Ingvoldstad-Malmgren, Maria Johansson Soller, Eleanor Harding, Melissa Hill, Celine Lewis
Publikováno v:
PLoS ONE, Vol 17, Iss 1, p e0261898 (2022)
Prenatal DNA tests, such as chromosomal microarray analysis or exome sequencing, increase the likelihood of receiving a diagnosis when fetal structural anomalies are identified. However, some parents will receive uncertain results such as variants of
Externí odkaz:
https://doaj.org/article/9d1157129095401b99b936452baba713
Autor:
Malgorzata I. Srebniak, Maarten F. C. M. Knapen, Lutgarde C. P. Govaerts, Marike Polak, Marieke Joosten, Karin E. M. Diderich, Laura J. C. M. van Zutven, Krista A. K. E. Prinsen, Sam Riedijk, Attie T. J. I. Go, Robert‐Jan H. Galjaard, Lies H. Hoefsloot, Diane Van Opstal
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Abstract Background Two technological innovations in the last decade significantly influenced the diagnostic yield of prenatal cytogenetic testing: genomic microarray allowing high resolution analysis and noninvasive prenatal testing (NIPT) focusing
Externí odkaz:
https://doaj.org/article/d6068b137b094e27a8999c4d69bcc379
Autor:
Diewertje Houtman, Boy Vijlbrief, Marike Polak, Jacqueline Pot, Petra Verhoef, Martina Cornel, Sam Riedijk
Publikováno v:
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 31(4), 409-416. Nature Publishing Group
Houtman, D, Vijlbrief, B, Polak, M, Pot, J, Verhoef, P, Cornel, M & Riedijk, S 2022, ' Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-022-01114-w
European Journal of Human Genetics, 31(4), 409-416. Nature Publishing Group
Houtman, D, Vijlbrief, B, Polak, M, Pot, J, Verhoef, P, Cornel, M & Riedijk, S 2022, ' Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-022-01114-w
Public engagement for Human Germline Genome Editing (HGGE) has often been called for, for example by the WHO. However, the impact of public engagement remains largely unknown. This study reports on public engagement outcomes in the context of a publi
Autor:
Kelly E. Ormond, Sam Riedijk, Malgorzata I. Srebniak, Hennie T. Brüggenwirth, Karin E. M. Diderich, Stina Lou, Melissa Hill, Jennifer Hammond, Celine Lewis, Attie T.J.I. Go, Jasmijn E. Klapwijk, Ida Vogel, Lutgarde C.P. Govaerts
Publikováno v:
Klapwijk, J E, Srebniak, M I, Go, A T J I, Govaerts, L C P, Lewis, C, Hammond, J, Hill, M, Lou, S, Vogel, I, Ormond, K E, Diderich, K E M, Brüggenwirth, H T & Riedijk, S R 2021, ' How to deal with uncertainty in prenatal genomics : A systematic review of guidelines and policies ', Clinical Genetics, vol. 100, no. 6, pp. 647-658 . https://doi.org/10.1111/cge.14010
Clinical Genetics
Clinical Genetics
Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after a fetal abnormality is detected through ultrasound. It is important
Autor:
Kelly E. Ormond, Mahesh Choolani, Melissa Hill, Celine Lewis, Jennifer Hammond, Ida Vogel, Stina Lou, Sam Riedijk, Charlotta Ingvoldstad-Malmgren, Lisa Hui, Jasmijn E. Klapwijk, Emma Jane Szepe, Eleanor Harding, Maria Johansson Soller
Publikováno v:
Lewis, C, Hammond, J, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Szepe, E J, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Hill, M & Riedijk, S 2021, ' Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting : an international cross-sectional study with healthcare professionals ', Prenatal Diagnosis, vol. 41, no. 6, pp. 720-732 . https://doi.org/10.1002/pd.5932
Prenatal Diagnosis, 41(6), 720-732. John Wiley and Sons Ltd
Lewis, C, Hammond, J, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Szepe, E J, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Hill, M & Riedijk, S 2021, ' Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting : An international cross-sectional study with healthcare professionals ', Prenatal Diagnosis, vol. 41, no. 6, pp. 720-732 . https://doi.org/10.1002/pd.5932
Prenatal Diagnosis
Prenatal Diagnosis, 41(6), 720-732. John Wiley & Sons Ltd.
Prenatal Diagnosis, 41(6), 720-732. John Wiley and Sons Ltd
Lewis, C, Hammond, J, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Szepe, E J, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Hill, M & Riedijk, S 2021, ' Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting : An international cross-sectional study with healthcare professionals ', Prenatal Diagnosis, vol. 41, no. 6, pp. 720-732 . https://doi.org/10.1002/pd.5932
Prenatal Diagnosis
Prenatal Diagnosis, 41(6), 720-732. John Wiley & Sons Ltd.
Objectives To conduct qualitative interviews with healthcare providers working in different countries to understand their experiences of dealing with uncertain results from prenatal chromosome microarray analysis (CMA) and exome sequencing (ES). Meth
Autor:
Sam Riedijk, Lara Ras, Jane Fisher, Iris Emons, Eva Pajkrt, Frederike Dekkers, Elisabeth van Leeuwen
Publikováno v:
Pajkrt, E, van Leeuwen, E, Ras, L, Emons, I, Dekkers, F, Fisher, J & Riedijk, S 2022, Ending the pregnancy . in Prenatal Genetic Counseling : Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty . Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty, Elsevier, pp. 137-163 . https://doi.org/10.1016/B978-0-12-823329-0.00008-8
Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty, 137-163
STARTPAGE=137;ENDPAGE=163;TITLE=Prenatal Genetic Counseling
Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty, 137-163
STARTPAGE=137;ENDPAGE=163;TITLE=Prenatal Genetic Counseling
Dilatation and Curettage Worldwide, together with aspiration, dilatation and curettage (D&C) is still the most frequently used method of termination of pregnancy. There is current evidence that such terminations have an association with cervical insu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::216bf98e27ed9ae88a3027494313aae5
https://research.vumc.nl/en/publications/256b0868-71c0-4293-9836-ce1da32fe8ea
https://research.vumc.nl/en/publications/256b0868-71c0-4293-9836-ce1da32fe8ea
Autor:
James Buchanan, Melissa Hill, Caroline M. Vass, Jennifer Hammond, Sam Riedijk, Jasmijn E. Klapwijk, Eleanor Harding, Stina Lou, Ida Vogel, Lisa Hui, Charlotta Ingvoldstad‐Malmgren, Maria Johansson Soller, Kelly E. Ormond, Mahesh Choolani, Qian Zheng, Lyn S. Chitty, Celine Lewis
Publikováno v:
Prenatal Diagnosis, 42 (7)
Buchanan, J, Hill, M, Vass, C M, Hammond, J, Riedijk, S, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Zheng, Q, Chitty, L S & Lewis, C 2022, ' Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey ', Prenatal Diagnosis, vol. 42, no. 7 . https://doi.org/10.1002/pd.6159
Prenatal Diagnosis, 42(7), 934-946. John Wiley & Sons Ltd.
Buchanan, J, Hill, M, Vass, C M, Hammond, J, Riedijk, S, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Zheng, Q, Chitty, L S & Lewis, C 2022, ' Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey ', Prenatal Diagnosis, vol. 42, no. 7, pp. 934-946 . https://doi.org/10.1002/pd.6159
Prenatal Diagnosis, 42(7), 934-946. John Wiley and Sons Ltd
Buchanan, J, Hill, M, Vass, C M, Hammond, J, Riedijk, S, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Zheng, Q, Chitty, L S & Lewis, C 2022, ' Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey ', Prenatal Diagnosis, vol. 42, no. 7 . https://doi.org/10.1002/pd.6159
Prenatal Diagnosis, 42(7), 934-946. John Wiley & Sons Ltd.
Buchanan, J, Hill, M, Vass, C M, Hammond, J, Riedijk, S, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Zheng, Q, Chitty, L S & Lewis, C 2022, ' Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey ', Prenatal Diagnosis, vol. 42, no. 7, pp. 934-946 . https://doi.org/10.1002/pd.6159
Prenatal Diagnosis, 42(7), 934-946. John Wiley and Sons Ltd
Objective We conducted a survey-based discrete-choice experiment (DCE) to understand the test features that drive women's preferences for prenatal genomic testing, and explore variation across countries. Methods Five test attributes were identified a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fab42b5bce4f79c6cad2637717c75ed9
Genomic technologies such as chromosomal microarray and exome sequencing are increasing the number of genetic diagnoses made during pregnancy. However, there remain numerous challenges in interpreting results in a way that is meaningful for prospecti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab3c9fdd941b9950b744f0fa4310a3c5
https://doi.org/10.1016/b978-0-12-823329-0.00016-7
https://doi.org/10.1016/b978-0-12-823329-0.00016-7
Autor:
Sam Riedijk, Frederike Dekkers, Lara Ras, Jane Fisher, Eva Pajkrt, Liesbeth van Leeuwen, Iris Emons, Karin E.M. Diderich
Publikováno v:
Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty, 121-135
STARTPAGE=121;ENDPAGE=135;TITLE=Prenatal Genetic Counseling
Riedijk, S, Dekkers, F, Ras, L, Emons, I, Fisher, J, Pajkrt, E, van Leeuwen, L & Diderich, K E M 2022, The iterative process of decision-making . in Prenatal Genetic Counseling : Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty . Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty, Elsevier, pp. 121-135 . https://doi.org/10.1016/B978-0-12-823329-0.00004-0
STARTPAGE=121;ENDPAGE=135;TITLE=Prenatal Genetic Counseling
Riedijk, S, Dekkers, F, Ras, L, Emons, I, Fisher, J, Pajkrt, E, van Leeuwen, L & Diderich, K E M 2022, The iterative process of decision-making . in Prenatal Genetic Counseling : Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty . Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty, Elsevier, pp. 121-135 . https://doi.org/10.1016/B978-0-12-823329-0.00004-0
This is the timeframe during which couples hear the (most likely) diagnosis and have to make the decision to terminate or continue the pregnancy. This timeframe is often very short. During the course of only a few weeks, couples see a large number of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::563d2c18f15a56157277d661869e25b9
https://doi.org/10.1016/b978-0-12-823329-0.00004-0
https://doi.org/10.1016/b978-0-12-823329-0.00004-0
Autor:
Hilmar H. Bijma, Hennie T. Brüggenwirth, Frederike Dekkers, Karin E.M. Diderich, Fadua El Bouazzaoui, Iris Emons, Jane Fisher, Iris Jansen-Bakkeren, Marieke Joosten, Jasmijn E. Klapwijk, Maarten F.C.M. Knapen, Celine Lewis, Stina Lou, Kelly E. Ormond, Eva Pajkrt, Ingrid A. Peters, Olav B. Petersen, Lara Ras, Sam Riedijk, Malgorzata I. Srebniak, Liesbeth van Leeuwen, Ida Vogel, Hajo I.J. Wildschut, Diana Zavyalova
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca73d7be481f059e4b96bafb6dcc944d
https://doi.org/10.1016/b978-0-12-823329-0.00020-9
https://doi.org/10.1016/b978-0-12-823329-0.00020-9