ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2022
Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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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
32 citing papers in PubMed, 53 citations in OpenAlex.
- Patients' perspectives on prenatal screening results that suggest maternal cancer: A qualitative analysis.Prenatal diagnosis · 2023Trial
- Maternal Malignancies Identified Through Non-invasive Prenatal Testing: A Systematic Review and Meta-Analysis.Geburtshilfe und Frauenheilkunde · 2026Article
- Prenatal Screening Via cfDNA - Paired-End Sequencing Utilizing Fragment Size Information Reduces the Screen Positive Rate for X Chromosome Aneuploidies.Prenatal diagnosis · 2026Article
- Recurrent Hodgkin's Lymphoma Detected Using Abnormal NIPT in Pregnancy: A Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2026Article
- Incidental Detection of Diffuse Large B-cell Lymphoma by Non-invasive Prenatal Testing: A Case Report.Cureus · 2026Article
- Genome-Wide Prenatal cfDNA Screening and the Obstetric Incidentalome: Maternal Cancer, Placental Mosaicism, and Pregnancy Risk.International journal of women's health · 2026Review
- NIPT detects occult maternal malignancies via cfDNA aberration profiling: a case report.Frontiers in medicine · 2026Article
- Article
- Worse prognosis for breast cancer diagnosed in advanced pregnancy and shortly postpartum: an update of the Dutch pregnancy-associated breast cancer cohort.Breast cancer research and treatment · 2025Article
- Society for Maternal-Fetal Medicine Consult Series #74: Cell-free DNA screening for aneuploidies: Updated guidance.Pregnancy (Hoboken, N.J.) · 2025Article
- Cancer in pregnancy: FIGO Best practice advice and narrative review.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2025Review
- Factors, pregnancy outcomes, and management associated with non-reportable results in prenatal cell-free DNA testing.Archives of gynecology and obstetrics · 2025Article
- Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer.The New England journal of medicine · 2024Observational
- Incidental Diagnosis of Occult Maternal Malignancy With Routine Noninvasive Prenatal Testing During Pregnancy.Cureus · 2024Article
- Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study.The Lancet regional health. Europe · 2024Article
- Oncologists must act to manage cancer detected through prenatal screening.Nature reviews. Cancer · 2024Article
- Hierarchical Classification of Factors Associated With Noninvasive Prenatal Testing Failures and Its Impact on Pregnancy Outcomes.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2024Article
- Article
- Breast cancer during pregnancy-The oncologist's point of view.Acta obstetricia et gynecologica Scandinavica · 2024Article
- Diagnostic, Management, and Neonatal Outcomes of Colorectal Cancer during Pregnancy: Two Case Reports, Systematic Review of Literature and Metanalysis.Diagnostics (Basel, Switzerland) · 2024Review
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Authors and funding
24 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeNoninvasive prenatal testing (NIPT) for fetal aneuploidy screening using cell-free DNA derived from maternal plasma can incidentally raise suspicion for cancer. Diagnostic routing after malignancy suspicious-NIPT faces many challenges. Here, we detail malignancy suspicious-NIPT cases, and describe the clinical characteristics, chromosomal aberrations, and diagnostic routing of the patients with a confirmed malignancy. Clinical lessons can be learned from our experience.
methodsPatients with NIPT results indicative of a malignancy referred for tumor screening between April 2017 and April 2020 were retrospectively included from a Dutch nationwide NIPT implementation study, TRIDENT-2. NIPT profiles from patients with confirmed malignancies were reviewed, and the pattern of chromosomal aberrations related to tumor type was analyzed. We evaluated the diagnostic contribution of clinical and genetic examinations.
resultsMalignancy suspicious-NIPT results were reported in 0.03% after genome-wide NIPT, and malignancies confirmed in 16 patients (16/48, 33.3%). Multiple chromosomal aberrations were seen in 23 of 48 patients with genome-wide NIPT, and a malignancy was confirmed in 16 patients (16/23, 69.6%). After targeted NIPT, 0.005% malignancy suspicious-NIPT results were reported, in 2/3 patients a malignancy was confirmed. Different tumor types and stages were diagnosed, predominantly hematologic malignancies (12/18). NIPT data showed recurrent gains and losses in primary mediastinal B-cell lymphomas and classic Hodgkin lymphomas. Magnetic resonance imaging and computed tomography were most informative in diagnosing the malignancy.
conclusionIn 231,896 pregnant women, a low percentage (0.02%) of NIPT results were assessed as indicative of a maternal malignancy. However, when multiple chromosomal aberrations were found, the risk of a confirmed malignancy was considerably high. Referral for extensive oncologic examination is recommended, and may be guided by tumor-specific hallmarks in the NIPT profile.
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