TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
| Autor: | Meij, K.R.M. van der, 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., Die-Smulders, C.E.M. de, Duin, L.K., Faas, B.H.W., Feenstra, I., Haak, M.C., Hoffer, M.J.V., Hollander, N.S. den, Hollink, I.H.I.M., Jehee, F.S., Knapen, M.F.C.M., Kooper, A.J.A., Langen, I.M. van, Lichtenbelt, K.D., Linskens, I.H., Maarle, M.C. van, 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., Ven, A.J.E.M. van der, Zelderen-Bhola, S.L. van, Henneman, L., Galjaard, R.J.H., Opstal, D. van, Weiss, M.M., Dutch NIPT Consortium |
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| Přispěvatelé: | Health Psychology Research (HPR), Reproductive Origins of Adult Health and Disease (ROAHD), Obstetrics and Gynaecology, Human Genetics, Clinical Genetics, MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Obstetrie & Gynaecologie, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), Human genetics, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Complex Trait Genetics, Obstetrics and gynaecology, APH - Quality of Care |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Trisomy 13 Syndrome IMPACT 030105 genetics & heredity genome-wide 0302 clinical medicine Pregnancy Prenatal Diagnosis/methods Prenatal Diagnosis Down Syndrome/diagnosis Genetics(clinical) DOWN-SYNDROME Young adult cfDNA First Genetics (clinical) Netherlands Trisomy 13 Syndrome/diagnosis Genome 030219 obstetrics & reproductive medicine Obstetrics implementation study Middle Aged Prognosis fetal trisomy common trisomies Parental anxiety CELL-FREE DNA Christian ministry Female Pregnancy Trimester HEALTH Genetic Testing/methods PREGNANT-WOMEN Human rare autosomal trisomies Rare cancers Radboud Institute for Health Sciences [Radboudumc 9] Adult medicine.medical_specialty Screening test Adolescent first tier test Netherlands/epidemiology Prenatal care ORGANIZATION Article 03 medical and health sciences Young Adult All institutes and research themes of the Radboud University Medical Center medicine Genetics Journal Article Humans Genetic Testing Trisomy 18 Syndrome/diagnosis Chromosome Aberrations business.industry Genome Human Non invasive Other Research Radboud Institute for Health Sciences [Radboudumc 0] Health Plan Implementation medicine.disease NIPS Pregnancy Trimester First prenatal screening EXPERIENCE Down Syndrome Trisomy business NIPT Trisomy 18 Syndrome Follow-Up Studies |
| Zdroj: | American Journal of Human Genetics, 105(6), 1091-1101. CELL PRESS American Journal of Human Genetics, 105, 6, pp. 1091-1101 American journal of human genetics, 105(6), 1091-1101. Cell Press American Journal of Human Genetics, 105, 1091-1101 Am J Hum Genet American Journal of Human Genetics, 105(6), 1091. Cell Press American Journal of Human Genetics, 105(6), 1091-1101. Cell Press 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 & The Dutch NIPT Consortium 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 |
| ISSN: | 0002-9297 |
| DOI: | 10.1016/j.ajhg.2019.10.005 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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