Cancer Diagnoses Following Abnormal Noninvasive Prenatal Testing: A Case Series, Literature Review, and Proposed Management Model.
| Title: | Cancer Diagnoses Following Abnormal Noninvasive Prenatal Testing: A Case Series, Literature Review, and Proposed Management Model. |
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| Authors: | Dow E; Department of Oncology, Peter MacCallum Cancer Centre, Melbourne, Australia.; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Australia.; Freimund A; Department of Oncology, Peter MacCallum Cancer Centre, Melbourne, Australia.; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Australia.; Smith K; Department of Oncology, Peter MacCallum Cancer Centre, Melbourne, Australia.; Hicks RJ; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Australia.; Department of Cancer Imaging, Peter MacCallum Cancer Centre, Melbourne, Australia.; Jurcevic P; Department of Obstetrics and Gynaecology, Royal Women's Hospital, Parkville, Australia.; Shackleton M; Department of Oncology, Alfred Health, Melbourne, Australia.; Department of Medicine, Monash University, Clayton, Australia.; James PA; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Australia.; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Australia.; Fellowes A; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, Australia.; Delatycki MB; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Murdoch Children's Research Institute, Parkville, Australia.; Fawcett S; Clinical Genetics Service, Royal Women's Hospital, Parkville, Australia.; Flowers N; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Parkville, Australia.; Pertile MD; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; McGillivray G; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Parkville, Australia.; Clinical Genetics Service, Royal Women's Hospital, Parkville, Australia.; Mileshkin L; Department of Oncology, Peter MacCallum Cancer Centre, Melbourne, Australia.; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Australia. |
| Source: | JCO precision oncology [JCO Precis Oncol] 2021 Nov; Vol. 5, pp. 1001-1012. |
| Publication Type: | Case Reports; Journal Article; Review |
| Language: | English |
| Journal Info: | Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 101705370 Publication Model: Print Cited Medium: Internet ISSN: 2473-4284 (Electronic) Linking ISSN: 24734284 NLM ISO Abbreviation: JCO Precis Oncol |
| Imprint Name(s): | Original Publication: Alexandria, VA : American Society of Clinical Oncology, [2017]- |
| MeSH Terms: | Noninvasive Prenatal Testing*; Pregnancy Complications, Neoplastic/*diagnosis; Pregnancy Complications, Neoplastic/therapy ; Adult ; Female ; Humans ; Practice Guidelines as Topic ; Pregnancy |
| Abstract: | Noninvasive prenatal testing (NIPT) is a screening test for fetal chromosomal aneuploidy using cell-free DNA derived from maternal blood. It has been rapidly accepted into obstetric practice because of its application from 10-weeks' gestation, and its high sensitivity and specificity. NIPT results can be influenced by several factors including placental or maternal mosaicism and co-twin demise; cell-free DNA from a maternal origin can also complicate interpretation, with evidence that NIPT can detect previously unsuspected malignancies. This study aimed to develop management guidelines for women with NIPT results suspicious of maternal malignancy. The Peter MacCallum Cancer Center's experience of seven cases where abnormal NIPT results led to investigation for maternal malignancy between 2016 and 2019 were reviewed, along with the published literature. Six of the seven women (86%) referred for investigation were diagnosed with advanced malignancies, including colorectal cancer, breast cancer, melanoma, and Hodgkin lymphoma. Based on our single-center experience, as well as the available literature, guidelines for the investigation of women with NIPT results suspicious of malignancy are proposed, including utilization of fluorodeoxyglucose positron emission tomography-computed tomography, which had a high concordance with other investigations and diagnoses. These guidelines include maternal and fetal investigations, as well as consideration of the complex medical, psychologic, social, and ethical needs of these patients and their families. |
| Competing Interests: | Alison FreimundPatents, Royalties, Other Intellectual Property: I am the CPI of the clinical trial, PRECISE, that is receiving study drug and part study funding from BeiGene Pharmaceuticals Rodney J. HicksStock and Other Ownership Interests: Telix Pharmaceuticals Mark ShackletonOther Relationship: Novartis, BMS, MSD, Pierre Fabre, Merck Serono, Roche, Illumina Martin B. DelatyckiResearch Funding: Reata Pharmaceuticals Nicola FlowersHonoraria: IlluminaResearch Funding: IlluminaTravel, Accommodations, Expenses: Illumina Mark D. PertileResearch Funding: IlluminaTravel, Accommodations, Expenses: Illumina George McGillivrayOther Relationship: Victorian Clinical Genetics ServicesNo other potential conflicts of interest were reported. |
| Entry Date(s): | Date Created: 20220107 Date Completed: 20220324 Latest Revision: 20220324 |
| Update Code: | 20260130 |
| DOI: | 10.1200/PO.20.00429 |
| PMID: | 34994626 |
| Database: | MEDLINE |
Case Reports; Journal Article; Review