DOI: 10.1515/medgen-2023-2055 ISSN: 1863-5490

Non-invasive prenatal testing: when results suggests maternal cancer

Liesbeth Lenaerts, Miel Theunis, Frédéric Amant, Joris R. Vermeesch
  • Genetics (clinical)
  • Genetics


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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