AI Article Synopsis
- Non-invasive prenatal testing (NIPT), developed to screen for fetal trisomies, has been shown to incidentally detect hidden maternal cancers through analysis of cell-free DNA (cfDNA) in maternal blood.
- The likelihood of identifying maternal cancers using NIPT varies based on the type of tumor and the specific technologies used in NIPT, as well as the follow-up diagnostic methods.
- Given the impact of discovering maternal cancer during pregnancy on both the mother and the fetus, further prospective studies are necessary to establish effective clinical practices and improve patient outcomes.
Article Abstract
It is now well-established that non-invasive prenatal testing (NIPT), originally designed to screen cell-free DNA (cfDNA) in maternal blood for the presence of common fetal trisomies, can lead to incidental detection of occult maternal malignancies. Retrospective evaluations have demonstrated that the detection of multiple copy number alterations in cfDNA is particularly suggestive of an incipient tumor and that cancer detection rates not only depend on tumor biology but also on applied NIPT technologies and downstream diagnostic investigations. Since the identification of a maternal cancer in pregnancy has implications for both woman and the unborn child, prospective studies are needed to provide evidence on best clinical practices and on clinical utility in terms of patient outcomes.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006267 | PMC |
| http://dx.doi.org/10.1515/medgen-2023-2055 | DOI Listing |
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