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

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... Mehr ...

Verfasser: 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
Dokumenttyp: Artikel
Erscheinungsdatum: 2019
Reihe/Periodikum: 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 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
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-27211364
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://hdl.handle.net/11370/d271c078-0838-49e9-b013-1c599c10dfd3

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.