ArticleEClinicalMedicine2021
Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies.
Article in EClinicalMedicine, 2021. 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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Who cites it
32 citing papers in PubMed, 80 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
- Genome-Wide Prenatal cfDNA Screening and the Obstetric Incidentalome: Maternal Cancer, Placental Mosaicism, and Pregnancy Risk.International journal of women's health · 2026Review
- Expanding the scope of non-invasive prenatal screening.Nature genetics · 2025Review
- Xq24/HemaSphere · 2025Article
- Copy-number alterations in cell-free DNA can be transient or harbingers of clonal hematopoiesis.NPJ precision oncology · 2025Article
- DAGIP: alleviating cell-free DNA sequencing biases with optimal transport.Genome biology · 2025Article
- Unraveling complexity and leveraging opportunities in uncommon breast cancer subtypes.NPJ breast cancer · 2025Review
- 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
- Review
- Oncologists must act to manage cancer detected through prenatal screening.Nature reviews. Cancer · 2024Article
- Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study.The Lancet regional health. Europe · 2024Article
- Challenges and opportunities for proton therapy during pregnancy.Acta obstetricia et gynecologica Scandinavica · 2024Article
- Approaching cancer during pregnancy.Nature reviews. Cancer · 2024Article
- Non-invasive prenatal testing: when results suggests maternal cancer.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Multi-faceted attributes of salivary cell-free DNA as liquid biopsy biomarkers for gastric cancer detection.Biomarker research · 2023Article
- Application of non-invasive prenatal testing to 91,280 spontaneous pregnancies and 3477 pregnancies conceived by in vitro fertilization.Molecular cytogenetics · 2023Article
- Noninvasive Prenatal Testing Using Circulating DNA and RNA: Advances, Challenges, and Possibilities.Annual review of biomedical data science · 2023Review
- Dying To Find Out: The Cost of Time at the Dawn of the Multicancer Early Detection Era.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023Review
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Authors and funding
23 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundImplausible false positive results in non-invasive prenatal testing (NIPT) have been occasionally associated with the detection of occult maternal malignancies. Hence, there is a need for approaches allowing accurate prediction of whether the NIPT result is pointing to an underlying malignancy, as well as for organized programs ensuring efficient downstream clinical management of these cases.
methodsUsing a data set of 88,294 NIPT performed at University Hospital Leuven (Belgium) between November 2013 and March 2020, we retrospectively evaluated the positive predictive value (PPV) of our NIPT approach for cancer detection. In this approach, whole-genome cell-free DNA (cfDNA) data from NIPT were scrutinized for the presence of (sub)chromosomal copy number alterations (CNAs) predictive for a malignancy, using an unbiased NIPT analysis pipeline coined GIPSeq. For suspected cases, the presence of a maternal cancer was evaluated via subsequent multidisciplinary clinical follow-up examinations. The cancer-specificity of the identified CNAs in cfDNA was assessed through genetic analyses of a tumor biopsy.
findingsFifteen women without a cancer history were identified with a GIPSeq result suggestive of a malignant process. Their cfDNA profiles showed either genome-wide aberrations or a single trisomy 8. Upon clinical examinations, a solid or hematological cancer was identified in 4 and 7 cases, respectively. Three women were identified as having a clonal mosaicism. For one case no underlying condition was found. These numbers add to a PPV of 73%. Based on this experience, we presented a multidisciplinary care path for efficient clinical management of these cases.
interpretationThe presented approach for analysing NIPT results has a high PPV, yet unknown sensitivity, for detecting asymptomatic malignancies upon routine NIPT. Given the complexity of diagnosing a pregnant woman with cancer, clinical follow-up should occur in a well-designed multidisciplinary setting, such as via the care model that we presented here.
fundingThis work was supported by Research Foundation Flanders and KU Leuven funding.
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