ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 50 citations in OpenAlex.
- Society for Maternal-Fetal Medicine Consult Series #76: Cancer in pregnancy.Pregnancy (Hoboken, N.J.) · 2026Article
- MARM: a framework for malignancy risk prediction from host-derived CNV in bronchoalveolar lavage fluid mNGS data with microbial admixture.Frontiers in microbiology · 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
- Advancements in Prenatal Genetic Screening and Testing: Emerging Technologies and Evolving Applications.Diagnostics (Basel, Switzerland) · 2025Review
- A large-scale, multi-centre validation study of an AI-empowered blood-based test for multi-cancer early detection.NPJ precision oncology · 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
- Oncologists must act to manage cancer detected through prenatal screening.Nature reviews. Cancer · 2024Article
- Non-invasive detection of lymphoma with circulating tumor DNA features and protein tumor markers.Frontiers in oncology · 2024Article
- Non-invasive prenatal testing: when results suggests maternal cancer.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Noninvasive Prenatal Testing Using Circulating DNA and RNA: Advances, Challenges, and Possibilities.Annual review of biomedical data science · 2023Review
- A panel of seven protein tumour markers for effective and affordable multi-cancer early detection by artificial intelligence: a large-scale and multicentre case-control study.EClinicalMedicine · 2023Article
- A novel approach for the non-invasive diagnosis of pulmonary nodules using low-depth whole-genome sequencing of cell-free DNA.Translational lung cancer research · 2022Article
- Prenatal DNA Sequencing for Fetal Aneuploidy Also Detects Maternal Cancer: Importance of Timely Workup and Management in Pregnant Women.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Article
- Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman.Prenatal diagnosis · 2022Article
- Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations.Journal of clinical medicine · 2022Article
- Effective Identification of Maternal Malignancies in Pregnancies Undergoing Noninvasive Prenatal Testing.Frontiers in genetics · 2022Article
- More than an Incidentaloma: The Nonreportable NIPT.Case reports in obstetrics and gynecology · 2022Article
- Detection of cryptogenic malignancies from metagenomic whole genome sequencing of body fluids.Genome medicine · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
64 authors at 17 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMultiple chromosomal aneuploidies may be associated with maternal malignancies and can cause failure of noninvasive prenatal screening (NIPS) tests. However, multiple chromosomal aneuploidies show poor specificity and selectivity for diagnosing maternal malignancies.
methodsThis multicenter retrospective analysis evaluated 639 pregnant women who tested positive for multiple chromosomal aneuploidies on initial NIPS test between January 2016 and December 2017. Women were assessed using genome profiling of copy-number variations, which was translated to cancer risk using a novel bioinformatics algorithm called the cancer detection pipeline (CDP). Sensitivity, specificity, and positive predictive value (PPV) of diagnosing maternal malignancies were compared for multiple chromosomal aneuploidies, the CDP model, and the combination of CDP and plasma tumor markers.
resultsOf the 639 subjects, 41 maternal malignant cancer cases were diagnosed. Multiple chromosomal aneuploidies predicted maternal malignancies with a PPV of 7.6%. Application of the CDP algorithm to women with multiple chromosomal aneuploidies allowed 34 of the 41 (83%) cancer cases to be identified, while excluding 422 of 501 (84.2%) of the false positive cases. Combining the CDP with plasma tumor marker testing gave PPV of 75.0%.
conclusionThe CDP algorithm can diagnose occult maternal malignancies with a reasonable PPV in multiple chromosomal aneuploidies-positive pregnant women in NIPS tests. This performance can be further improved by incorporating findings for plasma tumor markers.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.