ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
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Who cites it
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 115 citations in OpenAlex.
- Pooled it
- De novo unbalanced translocations have a complex history/aetiology.Human genetics · 2018Trial
- 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
- Prenatal Screening Via cfDNA - Paired-End Sequencing Utilizing Fragment Size Information Reduces the Screen Positive Rate for X Chromosome Aneuploidies.Prenatal diagnosis · 2026Article
- In Silico Fragment Size Selection for Enhanced Fetal Fraction and Abnormality Origin Discernment Using Pair-End Sequencing of Maternal Plasma DNA.Journal of clinical laboratory analysis · 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
- Genome-Wide Prenatal cfDNA Screening and the Obstetric Incidentalome: Maternal Cancer, Placental Mosaicism, and Pregnancy Risk.International journal of women's health · 2026Review
- Screening Positive for Rare Autosomal Aneuploidies Increases Frequency of Adverse Pregnancy Outcomes and Alters Clinical Management.Prenatal diagnosis · 2025Article
- The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations.Frontiers in medicine · 2025Article
- Article
- Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium.Molecular cytogenetics · 2024Article
- Patient experiences with prenatal cell-free DNA screening in a safety net setting.Prenatal diagnosis · 2024Article
- Psychological impact of additional findings detected by genome-wide Non-Invasive Prenatal Testing (NIPT): TRIDENT-2 study.European journal of human genetics : EJHG · 2024Article
- Article
- Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles.European journal of human genetics : EJHG · 2024Article
- Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray.Molecular cytogenetics · 2023Article
- Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader-Willi Syndrome.Diagnostics (Basel, Switzerland) · 2023Article
- Positive cfDNA screening results for 22q11.2 deletion syndrome-Clinical and laboratory considerations.Frontiers in genetics · 2023Article
- Article
Corrections and comments
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Authors and funding
26 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeNoninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a genome-wide approach, other chromosome anomalies can also be detected. We report on the origin, frequency, and clinical significance of these other chromosome aberrations found in pregnancies at risk for trisomy 21, 18, or 13.MethodsWhole-genome shallow massively parallel sequencing was used and all autosomes were analyzed.ResultsIn 78 of 2,527 cases (3.1%) NIPS was indicative of trisomy 21, 18, or 13, and in 41 (1.6%) of other chromosome aberrations. The latter were of fetal (n = 10), placental (n = 22), maternal (n = 1) or unknown (n = 7). One case lacked cytogenetic follow-up. Nine of the 10 fetal cases were associated with an abnormal phenotype. Thirteen of the 22 (59%) placental aberrations were associated with fetal congenital anomalies and/or poor fetal growth (<p10), which was severe (<p2.3) in six cases.ConclusionGenome-wide NIPS in pregnancies at risk for trisomy 21, 18, or 13, reveals a chromosomal aberration other than trisomy 21, 18 or 13 in about one-third of the abnormal cases. The majority involves a fetal or placental chromosome aberration with clinical relevance for pregnancy management.
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