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TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
- Source :
- 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
- Publication Year :
- 2019
-
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.
- Subjects :
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 00029297
- Database :
- OpenAIRE
- Journal :
- 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
- Accession number :
- edsair.doi.dedup.....a45f1a4d1a35934f9843790dea681e84