Výsledky vyhledávání - "Sam, Riedijk"

Akademický článek

Social and medical need for whole genome high resolution NIPT

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

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Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1bde4760ea634926737a20f4a63b3cf
http://www.scopus.com/inward/record.url?scp=85129837017&partnerID=8YFLogxK

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How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a55443e7983119214c6e93d4f62d14
https://doi.org/10.1111/cge.14010

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Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross‐sectional study with healthcare professionals

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.

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e62a24407ba5ff20aa0192722b8c4f3
https://doi.org/10.1002/pd.5932

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The iterative process of decision-making

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

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

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Ending the pregnancy

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

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

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Factor's that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey

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

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

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Dealing with uncertainty in prenatal genomics

Autor: Kelly E. Ormond, Sam Riedijk, Celine Lewis

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

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