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Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact
OBJECTIVE: To evaluate the clinical impact of nationwide implementation of genome‐wide non‐invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study). METHOD: Women with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5214231/ https://www.ncbi.nlm.nih.gov/pubmed/27750376 http://dx.doi.org/10.1002/pd.4945 |
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author | Oepkes, Dick Page‐Christiaens, G. C. (Lieve) Bax, Caroline J. Bekker, Mireille N. Bilardo, Catia M. Boon, Elles M. J. Schuring‐Blom, G. Heleen Coumans, Audrey B. C. Faas, Brigitte H. Galjaard, Robert‐Jan H. Go, Attie T. Henneman, Lidewij Macville, Merryn V. E. Pajkrt, Eva Suijkerbuijk, Ron F. Huijsdens‐van Amsterdam, Karin Van Opstal, Diane Verweij, E. J. (Joanne) Weiss, Marjan M. Sistermans, Erik A. |
author_facet | Oepkes, Dick Page‐Christiaens, G. C. (Lieve) Bax, Caroline J. Bekker, Mireille N. Bilardo, Catia M. Boon, Elles M. J. Schuring‐Blom, G. Heleen Coumans, Audrey B. C. Faas, Brigitte H. Galjaard, Robert‐Jan H. Go, Attie T. Henneman, Lidewij Macville, Merryn V. E. Pajkrt, Eva Suijkerbuijk, Ron F. Huijsdens‐van Amsterdam, Karin Van Opstal, Diane Verweij, E. J. (Joanne) Weiss, Marjan M. Sistermans, Erik A. |
author_sort | Oepkes, Dick |
collection | PubMed |
description | OBJECTIVE: To evaluate the clinical impact of nationwide implementation of genome‐wide non‐invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study). METHOD: Women with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn‐around time and pregnancy outcome. RESULTS: Between 1 April and 1 September 2014, 1413/23 232 (6%) women received a high‐risk FCT result. Of these, 1211 (85.7%) chose NIPT. One hundred seventy‐nine women had NIPT based on medical history. In total, 1386/1390 (99.7%) women received a result, 6 (0.4%) after redraw. Mean turn‐around time was 14 days. Follow‐up was available in 1376 (99.0%) pregnancies. NIPT correctly predicted 37/38 (97.4%) trisomies 21, 18 or 13 (29/30, 4/4 and 4/4 respectively); 5/1376 (0.4%) cases proved to be false positives: trisomies 21 (n = 2), 18 (n = 1) and 13 (n = 2). Estimated reduction in invasive testing was 62%. CONCLUSION: Introduction of NIPT in the Dutch National healthcare‐funded Prenatal Screening Program resulted in high uptake and a vast reduction of invasive testing. Our study supports offering NIPT to pregnant women at increased risk for fetal trisomy. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. |
format | Online Article Text |
id | pubmed-5214231 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-52142312017-01-18 Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact Oepkes, Dick Page‐Christiaens, G. C. (Lieve) Bax, Caroline J. Bekker, Mireille N. Bilardo, Catia M. Boon, Elles M. J. Schuring‐Blom, G. Heleen Coumans, Audrey B. C. Faas, Brigitte H. Galjaard, Robert‐Jan H. Go, Attie T. Henneman, Lidewij Macville, Merryn V. E. Pajkrt, Eva Suijkerbuijk, Ron F. Huijsdens‐van Amsterdam, Karin Van Opstal, Diane Verweij, E. J. (Joanne) Weiss, Marjan M. Sistermans, Erik A. Prenat Diagn Original Articles OBJECTIVE: To evaluate the clinical impact of nationwide implementation of genome‐wide non‐invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study). METHOD: Women with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn‐around time and pregnancy outcome. RESULTS: Between 1 April and 1 September 2014, 1413/23 232 (6%) women received a high‐risk FCT result. Of these, 1211 (85.7%) chose NIPT. One hundred seventy‐nine women had NIPT based on medical history. In total, 1386/1390 (99.7%) women received a result, 6 (0.4%) after redraw. Mean turn‐around time was 14 days. Follow‐up was available in 1376 (99.0%) pregnancies. NIPT correctly predicted 37/38 (97.4%) trisomies 21, 18 or 13 (29/30, 4/4 and 4/4 respectively); 5/1376 (0.4%) cases proved to be false positives: trisomies 21 (n = 2), 18 (n = 1) and 13 (n = 2). Estimated reduction in invasive testing was 62%. CONCLUSION: Introduction of NIPT in the Dutch National healthcare‐funded Prenatal Screening Program resulted in high uptake and a vast reduction of invasive testing. Our study supports offering NIPT to pregnant women at increased risk for fetal trisomy. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. John Wiley and Sons Inc. 2016-11-15 2016-12 /pmc/articles/PMC5214231/ /pubmed/27750376 http://dx.doi.org/10.1002/pd.4945 Text en © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Original Articles Oepkes, Dick Page‐Christiaens, G. C. (Lieve) Bax, Caroline J. Bekker, Mireille N. Bilardo, Catia M. Boon, Elles M. J. Schuring‐Blom, G. Heleen Coumans, Audrey B. C. Faas, Brigitte H. Galjaard, Robert‐Jan H. Go, Attie T. Henneman, Lidewij Macville, Merryn V. E. Pajkrt, Eva Suijkerbuijk, Ron F. Huijsdens‐van Amsterdam, Karin Van Opstal, Diane Verweij, E. J. (Joanne) Weiss, Marjan M. Sistermans, Erik A. Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact |
title | Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact |
title_full | Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact |
title_fullStr | Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact |
title_full_unstemmed | Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact |
title_short | Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact |
title_sort | trial by dutch laboratories for evaluation of non‐invasive prenatal testing. part i—clinical impact |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5214231/ https://www.ncbi.nlm.nih.gov/pubmed/27750376 http://dx.doi.org/10.1002/pd.4945 |
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