ArticleAmerican journal of human genetics2019
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 174 papers, 5 of them syntheses that pooled it.
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Who cites it
174 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review.Prenatal diagnosis · 2025Pooled it
- Pooled it
- Circulating Cell-Free DNA Levels in Psychiatric Diseases: A Systematic Review and Meta-Analysis.International journal of molecular sciences · 2023Pooled it
- Association between low fetal fraction in cell-free DNA testing and adverse pregnancy outcome: A systematic review.Prenatal diagnosis · 2021Pooled it
- Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review.Acta obstetricia et gynecologica Scandinavica · 2020Pooled it
- Reappraising the topology of cell-free fetal DNA in maternal blood toward improved prenatal genetic diagnostics.Science advances · 2026Review
- Cell-free DNA genomic and fragmentomic features for early outcome prediction in large B cell lymphoma.Cell reports. Medicine · 2026Article
- Maternal Malignancies Identified Through Non-invasive Prenatal Testing: A Systematic Review and Meta-Analysis.Geburtshilfe und Frauenheilkunde · 2026Article
- Near-perfect genome sequencing in medical genetics.Nature genetics · 2026Review
- Article
- Impact of Maternal Body Mass Index (BMI) on the Performance of Non-Invasive Prenatal Testing (NIPT).Prenatal diagnosis · 2026Observational
- First-Trimester Ultrasound: A Comparative Review of Guidelines.Diagnostics (Basel, Switzerland) · 2026Review
- Preferences of Pregnant Women and Healthcare Professionals on First-Trimester Ultrasound Screening for Fetal Anomalies: A Discrete Choice Experiment.Prenatal diagnosis · 2026Article
- Single-cell-based non-invasive screening for fetal pathogenic microimbalances using maternal blood: comparison with invasive prenatal diagnosis.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026Observational
- Early versus late termination for fetal anomalies: Women's perspectives and psychological impact in a mixed methods study.Acta obstetricia et gynecologica Scandinavica · 2026Article
- Article
- Genome-Wide Prenatal cfDNA Screening and the Obstetric Incidentalome: Maternal Cancer, Placental Mosaicism, and Pregnancy Risk.International journal of women's health · 2026Review
- Assessing Amplification Quality and Bias in MDA Methods Through Comparative Analysis of Short-Read Sequencing.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Concordance between genome-wide cfDNA screening and diagnostic test results for large copy-number variants: a multi-site study from the Global Expanded NIPT Consortium.Frontiers in genetics · 2026Article
- DeepFRAG: a method for cancer detection based on DNA fragmentomics and deep learning.Bioinformatics advances · 2026Article
114 more citing papers are in PubMed but not listed here.
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Authors and funding
41 authors.
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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.
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