Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer
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Le résumé fourni par la source
BACKGROUND: Cell-free DNA (cfDNA) sequence analysis to screen for fetal aneuploidy can incidentally detect maternal cancer. Additional data are needed to identify DNA-sequencing patterns and other biomarkers that can identify pregnant persons who are most likely to have cancer and to determine the best approach for follow-up. METHODS: In this ongoing study we performed cancer screening in pregnant or postpartum persons who did not perceive signs or symptoms of cancer but received unusual clinical cfDNA-sequencing results or results that were nonreportable (i.e., the fetal aneuploidy status could not be assessed) from one of 12 different commercial laboratories in North America. We used a uniform cancer-screening protocol including rapid whole-body magnetic resonance imaging (MRI), laboratory tests, and standardized cfDNA sequencing for research purposes with the use of a genomewide platform. The primary outcome was the presence of cancer in participants after the initial cancer-screening evaluation. Secondary analyses included test performance. RESULTS: Cancer was present in 52 of the 107 participants in the initial cohort (48.6%). The sensitivity and specificity of whole-body MRI in detecting occult cancer were 98.0% and 88.5%, respectively. Physical examination and laboratory tests were of limited use in identifying participants with cancer. Research sequencing showed that 49 participants had a combination of copy-number gains and losses across multiple (≥3) chromosomes; cancer was present in 47 of the participants (95.9%) with this sequencing pattern. Sequencing patterns of cfDNA in which there were only chromosomal gains (multiple trisomies) or only chromosomal losses (one or more monosomies) were found in participants with nonmalignant conditions, such as fibroids. CONCLUSIONS: In this study, 48.6% of participants who received unusual or nonreportable clinical cfDNA-sequencing results had an occult cancer. Further study of DNA-sequencing patterns that are suggestive of occult cancer during prenatal screening is warranted. (Funded by the NIH Intramural Research Programs; ClinicalTrials.gov number, NCT04049604.).
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer
- Date Crossref
- 05/12/2024
- Éditeur
- Massachusetts Medical Society
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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National Human Genome Research Institute Center for Precision Health Research pays non établi dans la noticeStructure de recherche
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National Institutes of Health pays non établi dans la noticeOrganisme public
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National Cancer Institute Center for Cancer Research pays non établi dans la noticeOrganisme public
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Center for Cancer Research pays non établi dans la noticeStructure de recherche
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National Institutes of Health Clinical Center Radiology and Imaging Sciences pays non établi dans la noticeÉtablissement de santé
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Leidos (United States) pays non établi dans la noticeEntreprise
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Leidos Biomedical Research Inc. (United States) Leidos Biomedical Research pays non établi dans la noticeEntreprise
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Office of the Director pays non établi dans la noticeInstitution
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Eunice Kennedy Shriver National Institute of Child Health and Human Development Office of the Director pays non établi dans la noticeStructure de recherche
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Cancer Data Science Laboratory pays non établi dans la noticeStructure de recherche
Center for Precision Health Research — National Human Genome Research Institute, National Institutes of Health et Center for Cancer Research — National Cancer Institute, avec 7 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.