{"title":"cfDNA screening for fetal aneuploidy facilitates maternal cancer detection","authors":"David Killock","doi":"10.1038/s41571-024-00981-0","DOIUrl":null,"url":null,"abstract":"<p>Sequencing of plasma cell-free DNA (cfDNA) is commonly performed during pregnancy to screen for fetal aneuploidy. Now, data from the ongoing prospective IDENTIFY study demonstrate that this strategy also enables prompt detection of occult maternal cancers.</p><p>IDENTIFY is enrolling individuals with unusual or nonreportable cfDNA fetal aneuploidy-screening results but without perceived signs or symptoms of cancer to undergo further standardized genome-wide cfDNA sequencing and a uniform cancer-screening protocol. The primary outcome is the presence of cancer after initial screening using this protocol including rapid whole-body MRI, various blood tests (including serum tumour markers), faecal occult blood test (FOBT), family and medical history, and physical examination.</p>","PeriodicalId":19079,"journal":{"name":"Nature Reviews Clinical Oncology","volume":"81 1","pages":""},"PeriodicalIF":81.1000,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nature Reviews Clinical Oncology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1038/s41571-024-00981-0","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ONCOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Sequencing of plasma cell-free DNA (cfDNA) is commonly performed during pregnancy to screen for fetal aneuploidy. Now, data from the ongoing prospective IDENTIFY study demonstrate that this strategy also enables prompt detection of occult maternal cancers.
IDENTIFY is enrolling individuals with unusual or nonreportable cfDNA fetal aneuploidy-screening results but without perceived signs or symptoms of cancer to undergo further standardized genome-wide cfDNA sequencing and a uniform cancer-screening protocol. The primary outcome is the presence of cancer after initial screening using this protocol including rapid whole-body MRI, various blood tests (including serum tumour markers), faecal occult blood test (FOBT), family and medical history, and physical examination.
期刊介绍：
Nature Reviews publishes clinical content authored by internationally renowned clinical academics and researchers, catering to readers in the medical sciences at postgraduate levels and beyond. Although targeted at practicing doctors, researchers, and academics within specific specialties, the aim is to ensure accessibility for readers across various medical disciplines. The journal features in-depth Reviews offering authoritative and current information, contextualizing topics within the history and development of a field. Perspectives, News & Views articles, and the Research Highlights section provide topical discussions, opinions, and filtered primary research from diverse medical journals.
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