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Rachèl V. van Schendel G. C. Page-Christiaens Lean Beulen Catia M. Bilardo Marjon A. de Boer Audrey B. C. Coumans Brigitte H. Faas Irene M. van Langen Klaske D. Lichtenbelt Merel C. van Maarle Merryn V. E. Macville Dick Oepkes Eva Pajkrt Lidewij Henneman for the Dutch NIPT Consortium 《黑龙江环境通报》2016,36(12):1091-1098
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Dick Oepkes G. C. Page-Christiaens Caroline J. Bax Mireille N. Bekker Catia M. Bilardo Elles M. J. Boon G. Heleen Schuring-Blom Audrey B. C. Coumans Brigitte H. Faas Robert-Jan H. Galjaard Attie T. Go Lidewij Henneman Merryn V. E. Macville Eva Pajkrt Ron F. Suijkerbuijk Karin Huijsdens-van Amsterdam Diane Van Opstal E. J. Verweij Marjan M. Weiss Erik A. Sistermans and for the Dutch NIPT Consortium 《黑龙江环境通报》2016,36(12):1083-1090
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Brigitte H. W. Faas Dineke Westra Sonja A. de Munnik Maartje van Rij Carlo Marcelis Sara Joosten Ingrid Krapels Vivian Vernimmen Malou Heijligers Marjolein H. Willemsen Nicole de Leeuw Tuula Rinne Rolph Pfundt Sanne P. Smeekens Sander P. A. Stegmann Merryn Macville Esther Sikkel Audrey Coumans Lia Wijnberger Irma Derks Josefa van Lent-Albrechts Tom Hofste Raoul Timmermans Janneke van den End Servi J. C. Stevens Ilse Feenstra 《黑龙江环境通报》2023,43(4):527-543
Objective
We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exome Sequencing (WES) data for prenatal diagnosis of fetuses with ultrasound (US) anomalies and a non-causative QF-PCR result.Methods
After invasive diagnostics, whole exome parent-offspring trio-sequencing with exome-wide CNV analysis was performed in pregnancies with fetal US anomalies and a non-causative QF-PCR result (WES-CNV). On request, additional SNV-analysis, restricted to (the) requested gene panel(s) only (with the option of whole exome SNV-analysis afterward) was performed simultaneously (WES-CNV/SNV) or as rapid SNV-re-analysis, following a normal CNV analysis.Results
In total, 415 prenatal samples were included. Following a non-causative QF-PCR result, WES-CNV analysis was initially requested for 74.3% of the chorionic villus (CV) samples and 45% of the amniotic fluid (AF) samples. In case WES-CNV analysis did not reveal a causative aberration, SNV-re-analysis was requested in 41.7% of the CV samples and 17.5% of the AF samples. All initial analyses could be finished within 2 weeks after sampling. For SNV-re-analysis during pregnancy, turn-around-times (TATs) varied between one and 8 days.Conclusion
We show a highly efficient all-in-one WES-based strategy, with short TATs, and the option of rapid SNV-re-analysis after a normal CNV result. 相似文献4.
Lore Lannoo Karuna R. M. van der Meij Mireille N. Bekker Luc De Catte Sarah Deckers Koenraad Devriendt Nele Roggen Robert-Jan H. Galjaard Janneke Gitsels-van der Wal Merryn V. E. Macville Linda Martin Erik A. Sistermans Kristel Van Calsteren Joachim Van Keirsbilck Neeltje Crombag Lidewij Henneman 《黑龙江环境通报》2023,43(3):294-303
Background
The Netherlands and Belgium have been among the first countries to offer non-invasive prenatal testing (NIPT) as a first-tier screening test. Despite similarities, differences exist in counseling modalities and test uptake. This study explored decision-making and perspectives of pregnant women who opted for NIPT in both countries.Methods
A questionnaire study was performed among pregnant women in the Netherlands (NL) (n = 587) and Belgium (BE) (n = 444) opting for NIPT, including measures on informed choice, personal and societal perspectives on trisomy 21, 18 and 13 and pregnancy termination.Results
Differences between Dutch and Belgian women were shown in the level of informed choice (NL: 83% vs. BE: 59%, p < 0.001), intention to terminate the pregnancy in case of confirmed trisomy 21 (NL: 51% vs. BE: 62%, p = 0.003) and trisomy 13/18 (NL: 80% vs. BE: 73%, p = 0.020). More Belgian women considered trisomy 21 a severe condition (NL: 64% vs. BE: 81%, p < 0.001). Belgian women more frequently indicated that they believed parents are judged for having a child with trisomy 21 (BE: 42% vs. NL: 16%, p < 0.001) and were less positive about quality of care and support for children with trisomy 21 (BE: 23% vs. NL: 62%, p < 0.001).Conclusion
Differences in women's decision-making regarding NIPT and the conditions screened for may be influenced by counseling aspects and country-specific societal and cultural contexts. 相似文献
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