Publication

TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

Dutch NIPT Consortium, van der Meij, K. R. M., Sistermans, E. A., Macville, M. V. E., Stevens, S. J. C., Bax, C. J., Bekker, M. N., Bilardo, C. M., Boon, E. M. J., Boter, M., Diderich, K. E. M., de Die-Smulders, C. E. M., Duin, L. K., Faas, B. H. W., Feenstra, I., Haak, M. C., Hoffer, M. J. V., den Hollander, N. S., Hollink, I. H. I. M., Jehee, F. S., Knapen, M. F. C. M., Kooper, A. J. A., van Langen, I. M., Lichtenbelt, K. D., Linskens, I. H., van Maarle, M. C., Oepkes, D., Pieters, M. J., Schuring-Blom, G. H., Sikkel, E., Sikkema-Raddatz, B., Smeets, D. F. C. M., Srebniak, M. I., Suijkerbuijk, R. F., Tan-Sindhunata, G. M., van der Ven, A. J. E. M., van Zelderen-Bhola, S. L., Henneman, L., Galjaard, R-J. H., Van Opstal, D. & Weiss, M. M., 5-Dec-2019, In : American Journal of Human Genetics. 105, 6, p. 1091-1101 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

APA

Dutch NIPT Consortium, van der Meij, K. R. M., Sistermans, E. A., Macville, M. V. E., Stevens, S. J. C., Bax, C. J., Bekker, M. N., Bilardo, C. M., Boon, E. M. J., Boter, M., Diderich, K. E. M., de Die-Smulders, C. E. M., Duin, L. K., Faas, B. H. W., Feenstra, I., Haak, M. C., Hoffer, M. J. V., den Hollander, N. S., Hollink, I. H. I. M., ... Weiss, M. M. (2019). TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands. American Journal of Human Genetics, 105(6), 1091-1101. https://doi.org/10.1016/j.ajhg.2019.10.005

Author

Dutch NIPT Consortium ; van der Meij, Karuna R M ; Sistermans, Erik A ; Macville, Merryn V E ; Stevens, Servi J C ; Bax, Caroline J ; Bekker, Mireille N ; Bilardo, Caterina M ; Boon, Elles M J ; Boter, Marjan ; Diderich, Karin E M ; de Die-Smulders, Christine E M ; Duin, Leonie K ; Faas, Brigitte H W ; Feenstra, Ilse ; Haak, Monique C ; Hoffer, Mariëtte J V ; den Hollander, Nicolette S ; Hollink, Iris H I M ; Jehee, Fernanda S ; Knapen, Maarten F C M ; Kooper, Angelique J A ; van Langen, Irene M ; Lichtenbelt, Klaske D ; Linskens, Ingeborg H ; van Maarle, Merel C ; Oepkes, Dick ; Pieters, Mijntje J ; Schuring-Blom, G Heleen ; Sikkel, Esther ; Sikkema-Raddatz, Birgit ; Smeets, Dominique F C M ; Srebniak, Malgorzata I ; Suijkerbuijk, Ron F ; Tan-Sindhunata, Gita M ; van der Ven, A Jeanine E M ; van Zelderen-Bhola, Shama L ; Henneman, Lidewij ; Galjaard, Robert-Jan H ; Van Opstal, Diane ; Weiss, Marjan M. / TRIDENT-2 : National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands. In: American Journal of Human Genetics. 2019 ; Vol. 105, No. 6. pp. 1091-1101.

Harvard

Dutch NIPT Consortium, van der Meij, KRM, Sistermans, EA, Macville, MVE, Stevens, SJC, Bax, CJ, Bekker, MN, Bilardo, CM, Boon, EMJ, Boter, M, Diderich, KEM, de Die-Smulders, CEM, Duin, LK, Faas, BHW, Feenstra, I, Haak, MC, Hoffer, MJV, den Hollander, NS, Hollink, IHIM, Jehee, FS, Knapen, MFCM, Kooper, AJA, van Langen, IM, Lichtenbelt, KD, Linskens, IH, van Maarle, MC, Oepkes, D, Pieters, MJ, Schuring-Blom, GH, Sikkel, E, Sikkema-Raddatz, B, Smeets, DFCM, Srebniak, MI, Suijkerbuijk, RF, Tan-Sindhunata, GM, van der Ven, AJEM, van Zelderen-Bhola, SL, Henneman, L, Galjaard, R-JH, Van Opstal, D & Weiss, MM 2019, 'TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands', American Journal of Human Genetics, vol. 105, no. 6, pp. 1091-1101. https://doi.org/10.1016/j.ajhg.2019.10.005

Standard

TRIDENT-2 : National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands. / Dutch NIPT Consortium; van der Meij, Karuna R M; Sistermans, Erik A; Macville, Merryn V E; Stevens, Servi J C; Bax, Caroline J; Bekker, Mireille N; Bilardo, Caterina M; Boon, Elles M J; Boter, Marjan; Diderich, Karin E M; de Die-Smulders, Christine E M; Duin, Leonie K; Faas, Brigitte H W; Feenstra, Ilse; Haak, Monique C; Hoffer, Mariëtte J V; den Hollander, Nicolette S; Hollink, Iris H I M; Jehee, Fernanda S; Knapen, Maarten F C M; Kooper, Angelique J A; van Langen, Irene M; Lichtenbelt, Klaske D; Linskens, Ingeborg H; van Maarle, Merel C; Oepkes, Dick; Pieters, Mijntje J; Schuring-Blom, G Heleen; Sikkel, Esther; Sikkema-Raddatz, Birgit; Smeets, Dominique F C M; Srebniak, Malgorzata I; Suijkerbuijk, Ron F; Tan-Sindhunata, Gita M; van der Ven, A Jeanine E M; van Zelderen-Bhola, Shama L; Henneman, Lidewij; Galjaard, Robert-Jan H; Van Opstal, Diane; Weiss, Marjan M.

In: American Journal of Human Genetics, Vol. 105, No. 6, 05.12.2019, p. 1091-1101.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

Dutch NIPT Consortium, van der Meij KRM, Sistermans EA, Macville MVE, Stevens SJC, Bax CJ et al. TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands. American Journal of Human Genetics. 2019 Dec 5;105(6):1091-1101. https://doi.org/10.1016/j.ajhg.2019.10.005


BibTeX

@article{d271c078083849e9b0131c599c10dfd3,
title = "TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands",
abstract = "The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 as the TRIDENT-2 study, licensed by the Dutch Ministry of Health. In the first year, NIPT was performed in 73,239 pregnancies (42% of all pregnancies), 7,239 (4%) chose first-trimester combined testing, and 54% did not participate. The number of trisomies 21 (239, 0.33%), 18 (49, 0.07%), and 13 (55, 0.08%) found in this study is comparable to earlier studies, but the Positive Predictive Values (PPV)-96% for trisomy 21, 98% for trisomy 18, and 53% for trisomy 13-were higher than expected. Findings other than trisomy 21, 18, or 13 were reported on request of the pregnant women; 78% of women chose to have these reported. The number of additional findings was 207 (0.36%); these included other trisomies (101, 0.18%, PPV 6%, many of the remaining 94% of cases are likely confined placental mosaics and possibly clinically significant), structural chromosomal aberrations (95, 0.16%, PPV 32%,) and complex abnormal profiles indicative of maternal malignancies (11, 0.02%, PPV 64%). The implementation of genome-wide NIPT is under debate because the benefits of detecting other fetal chromosomal aberrations must be balanced against the risks of discordant positives, parental anxiety, and a potential increase in (invasive) diagnostic procedures. Our first-year data, including clinical data and laboratory follow-up data, will fuel this debate. Furthermore, we describe how NIPT can successfully be embedded into a national screening program with a single chain for prenatal care including counseling, testing, and follow-up.",
author = "{Dutch NIPT Consortium} and {van der Meij}, {Karuna R M} and Sistermans, {Erik A} and Macville, {Merryn V E} and Stevens, {Servi J C} and Bax, {Caroline J} and Bekker, {Mireille N} and Bilardo, {Caterina M} and Boon, {Elles M J} and Marjan Boter and Diderich, {Karin E M} and {de Die-Smulders}, {Christine E M} and Duin, {Leonie K} and Faas, {Brigitte H W} and Ilse Feenstra and Haak, {Monique C} and Hoffer, {Mari{\"e}tte J V} and {den Hollander}, {Nicolette S} and Hollink, {Iris H I M} and Jehee, {Fernanda S} and Knapen, {Maarten F C M} and Kooper, {Angelique J A} and {van Langen}, {Irene M} and Lichtenbelt, {Klaske D} and Linskens, {Ingeborg H} and {van Maarle}, {Merel C} and Dick Oepkes and Pieters, {Mijntje J} and Schuring-Blom, {G Heleen} and Esther Sikkel and Birgit Sikkema-Raddatz and Smeets, {Dominique F C M} and Srebniak, {Malgorzata I} and Suijkerbuijk, {Ron F} and Tan-Sindhunata, {Gita M} and {van der Ven}, {A Jeanine E M} and {van Zelderen-Bhola}, {Shama L} and Lidewij Henneman and Galjaard, {Robert-Jan H} and {Van Opstal}, Diane and Weiss, {Marjan M}",
note = "Copyright {\textcopyright} 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.",
year = "2019",
month = dec,
day = "5",
doi = "10.1016/j.ajhg.2019.10.005",
language = "English",
volume = "105",
pages = "1091--1101",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "CELL PRESS",
number = "6",

}

RIS

TY - JOUR

T1 - TRIDENT-2

T2 - National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

AU - Dutch NIPT Consortium

AU - van der Meij, Karuna R M

AU - Sistermans, Erik A

AU - Macville, Merryn V E

AU - Stevens, Servi J C

AU - Bax, Caroline J

AU - Bekker, Mireille N

AU - Bilardo, Caterina M

AU - Boon, Elles M J

AU - Boter, Marjan

AU - Diderich, Karin E M

AU - de Die-Smulders, Christine E M

AU - Duin, Leonie K

AU - Faas, Brigitte H W

AU - Feenstra, Ilse

AU - Haak, Monique C

AU - Hoffer, Mariëtte J V

AU - den Hollander, Nicolette S

AU - Hollink, Iris H I M

AU - Jehee, Fernanda S

AU - Knapen, Maarten F C M

AU - Kooper, Angelique J A

AU - van Langen, Irene M

AU - Lichtenbelt, Klaske D

AU - Linskens, Ingeborg H

AU - van Maarle, Merel C

AU - Oepkes, Dick

AU - Pieters, Mijntje J

AU - Schuring-Blom, G Heleen

AU - Sikkel, Esther

AU - Sikkema-Raddatz, Birgit

AU - Smeets, Dominique F C M

AU - Srebniak, Malgorzata I

AU - Suijkerbuijk, Ron F

AU - Tan-Sindhunata, Gita M

AU - van der Ven, A Jeanine E M

AU - van Zelderen-Bhola, Shama L

AU - Henneman, Lidewij

AU - Galjaard, Robert-Jan H

AU - Van Opstal, Diane

AU - Weiss, Marjan M

N1 - Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

PY - 2019/12/5

Y1 - 2019/12/5

N2 - The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 as the TRIDENT-2 study, licensed by the Dutch Ministry of Health. In the first year, NIPT was performed in 73,239 pregnancies (42% of all pregnancies), 7,239 (4%) chose first-trimester combined testing, and 54% did not participate. The number of trisomies 21 (239, 0.33%), 18 (49, 0.07%), and 13 (55, 0.08%) found in this study is comparable to earlier studies, but the Positive Predictive Values (PPV)-96% for trisomy 21, 98% for trisomy 18, and 53% for trisomy 13-were higher than expected. Findings other than trisomy 21, 18, or 13 were reported on request of the pregnant women; 78% of women chose to have these reported. The number of additional findings was 207 (0.36%); these included other trisomies (101, 0.18%, PPV 6%, many of the remaining 94% of cases are likely confined placental mosaics and possibly clinically significant), structural chromosomal aberrations (95, 0.16%, PPV 32%,) and complex abnormal profiles indicative of maternal malignancies (11, 0.02%, PPV 64%). The implementation of genome-wide NIPT is under debate because the benefits of detecting other fetal chromosomal aberrations must be balanced against the risks of discordant positives, parental anxiety, and a potential increase in (invasive) diagnostic procedures. Our first-year data, including clinical data and laboratory follow-up data, will fuel this debate. Furthermore, we describe how NIPT can successfully be embedded into a national screening program with a single chain for prenatal care including counseling, testing, and follow-up.

AB - The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 as the TRIDENT-2 study, licensed by the Dutch Ministry of Health. In the first year, NIPT was performed in 73,239 pregnancies (42% of all pregnancies), 7,239 (4%) chose first-trimester combined testing, and 54% did not participate. The number of trisomies 21 (239, 0.33%), 18 (49, 0.07%), and 13 (55, 0.08%) found in this study is comparable to earlier studies, but the Positive Predictive Values (PPV)-96% for trisomy 21, 98% for trisomy 18, and 53% for trisomy 13-were higher than expected. Findings other than trisomy 21, 18, or 13 were reported on request of the pregnant women; 78% of women chose to have these reported. The number of additional findings was 207 (0.36%); these included other trisomies (101, 0.18%, PPV 6%, many of the remaining 94% of cases are likely confined placental mosaics and possibly clinically significant), structural chromosomal aberrations (95, 0.16%, PPV 32%,) and complex abnormal profiles indicative of maternal malignancies (11, 0.02%, PPV 64%). The implementation of genome-wide NIPT is under debate because the benefits of detecting other fetal chromosomal aberrations must be balanced against the risks of discordant positives, parental anxiety, and a potential increase in (invasive) diagnostic procedures. Our first-year data, including clinical data and laboratory follow-up data, will fuel this debate. Furthermore, we describe how NIPT can successfully be embedded into a national screening program with a single chain for prenatal care including counseling, testing, and follow-up.

U2 - 10.1016/j.ajhg.2019.10.005

DO - 10.1016/j.ajhg.2019.10.005

M3 - Article

C2 - 31708118

VL - 105

SP - 1091

EP - 1101

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 6

ER -

ID: 102697754