ArticleAmerican journal of human genetics2022
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 95 citations in OpenAlex.
- Pooled it
- Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women.Annals of medicine · 2026Article
- Recurrent Hodgkin's Lymphoma Detected Using Abnormal NIPT in Pregnancy: A Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2026Article
- Studies of post-partum placentas provide insights into the origin of structural chromosomal aberrations.Human reproduction (Oxford, England) · 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
- Advancements in Liquid Biopsy Technologies for Non-Invasive Detection of Placental Dysfunction and Perinatal Complications: Focus on cfDNA, cfRNA, and Extracellular Vesicles.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2026Review
- Genome-Wide Prenatal cfDNA Screening and the Obstetric Incidentalome: Maternal Cancer, Placental Mosaicism, and Pregnancy Risk.International journal of women's health · 2026Review
- Clinical Utility of Opportunistic Genome-Wide cfDNA Prenatal Screening in Intermediate-Risk Pregnancies.Genes · 2025Article
- Expanding the scope of non-invasive prenatal screening.Nature genetics · 2025Review
- Article
- Advancements in Prenatal Genetic Screening and Testing: Emerging Technologies and Evolving Applications.Diagnostics (Basel, Switzerland) · 2025Review
- Human Placental Genomic Instability Predicts Adverse Pregnancy Outcomes.Research square · 2025Article
- Article
- Implementation of circulating cell-free DNA screening for fetal aneuploidies.Advances in laboratory medicine · 2025Article
- Article
- Concordance and pathogenicity of copy number variants detected by non-invasive prenatal screening in 38,611 pregnant women without fetal structural abnormalities.Chinese medical journal · 2025Article
- Fetal Fraction of Cell-Free DNA in the Prediction of Adverse Pregnancy Outcomes: A Nationwide Retrospective Cohort Study.BJOG : an international journal of obstetrics and gynaecology · 2025Article
- Article
- Healthcare professionals' experiences with expanded noninvasive prenatal screening: challenges and solutions.Journal of community genetics · 2025Article
- Clinical experience of genome-wide non-invasive prenatal testing as a first-tier screening test in a cohort of 59,771 pregnancies.PloS one · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
35 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36%). For 358 cases, the origin was proven to be either fetal (n = 79; 22.1%), (assumed) confined placental mosaicism (CPM) (n = 189; 52.8%), or maternal (n = 90; 25.1%). For the remaining 44 (10.9%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2%). For CPM cases, occurrence of pre-eclampsia (8.5% [16/189] vs 0.5% [754/159,924]; RR 18.5), and birth weight <2.3rd percentile (13.6% [24/177] vs 2.5% [3,892/155,491]; RR 5.5) were significantly increased compared to the general obstetric population. Of the 90 maternal findings, 12 (13.3%) were malignancies and 32 (35.6%) (mosaic) pathogenic copy number variants, mostly associated with mild or no clinical phenotypes. Data from this large cohort study provide crucial information for deciding if and how to implement GW-NIPT in screening programs. Additionally, these data can inform the challenging interpretation, counseling, and follow-up of additional findings.
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