Non-invasive prenatal testing: when results suggests maternal cancer

Author:

Lenaerts Liesbeth1ORCID,Theunis Miel2ORCID,Amant Frédéric3ORCID,Vermeesch Joris R.4ORCID

Affiliation:

1. Catholic University Leuven Department of Oncology, Laboratory of Gynecological Oncology Herestraat 49 – box 818 Leuven Belgium

2. Catholic University Leuven Centre of Human Genetics Herestraat 49 – box 818 Leuven Belgium

3. Catholic University Leuven Department of Oncology, Laboratory for Gynecological Oncology Leuven Belgium

4. University Hospitals Leuven Centre of Human Genetics Leuven Belgium

Abstract

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.

Publisher

Walter de Gruyter GmbH

Subject

Genetics (clinical),Genetics

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