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
SN - 0002-9297
VL - 105
SP - 1091
EP - 1101
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 6
ER -