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

Autor:	van der Meij KRM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands., Sistermans EA; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands. Electronic address: e.sistermans@amsterdamumc.nl., Macville MVE; Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, 6229HX, Maastricht, the Netherlands., Stevens SJC; Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, 6229HX, Maastricht, the Netherlands., Bax CJ; Department of Obstetrics and Gynaecology, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, the Netherlands., Bekker MN; Department of Obstetrics and Gynaecology, Utrecht University Medical Center, 3584CX Utrecht, the Netherlands., Bilardo CM; Department of Obstetrics and Gynaecology, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands., Boon EMJ; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands., Boter M; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Diderich KEM; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., de Die-Smulders CEM; Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, 6229HX, Maastricht, the Netherlands., Duin LK; Department of Obstetry and Gynaecology, University Medical Centre Groningen, University of Groningen, 9713GZ Groningen, the Netherlands., Faas BHW; Department of Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical Center, 6525GA Nijmegen, the Netherlands., Feenstra I; Department of Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical Center, 6525GA Nijmegen, the Netherlands., Haak MC; Department of Obstetrics, Leiden University Medical Center, 2333ZA Leiden, the Netherlands., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, 2333ZA Leiden, the Netherlands., den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, 2333ZA Leiden, the Netherlands., Hollink IHIM; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Jehee FS; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Knapen MFCM; Department of Obstetrics and Fetal Medicine, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Kooper AJA; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, the Netherlands., van Langen IM; Department of Genetics, University Medical Centre Groningen, University of Groningen, 9713GZ Groningen, the Netherlands., Lichtenbelt KD; Department of Genetics, Utrecht University Medical Center, 3584CX Utrecht, the Netherlands., Linskens IH; Department of Obstetrics and Gynaecology, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands., van Maarle MC; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, the Netherlands., Oepkes D; Department of Obstetrics, Leiden University Medical Center, 2333ZA Leiden, the Netherlands., Pieters MJ; Department of Obstetrics and Gynecology, Maastricht University Medical Center, 6229HX Maastricht, the Netherlands., Schuring-Blom GH; Department of Genetics, Utrecht University Medical Center, 3584CX Utrecht, the Netherlands., Sikkel E; Department of Obstetrics and Gynecology, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Sikkema-Raddatz B; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, the Netherlands., Smeets DFCM; Department of Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical Center, 6525GA Nijmegen, the Netherlands., Srebniak MI; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Suijkerbuijk RF; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, the Netherlands., Tan-Sindhunata GM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands., van der Ven AJEM; Verloskundigenpraktijk Velp, 6883AX Velp, the Netherlands., van Zelderen-Bhola SL; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands., Henneman L; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands., Galjaard RH; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Van Opstal D; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Weiss MM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands.
Jazyk:	angličtina
Zdroj:	American journal of human genetics [Am J Hum Genet] 2019 Dec 05; Vol. 105 (6), pp. 1091-1101. Date of Electronic Publication: 2019 Nov 07.
DOI:	10.1016/j.ajhg.2019.10.005
Abstrakt:	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. (Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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