Incidental Detection of Maternal Neoplasia in Noninvasive Prenatal Testing

Abstract

In a population of pregnant women who submitted a blood sample for cfDNA testing, an abnormal genomic profile not consistent with fetal abnormalities was detected in about 10 out of 100000 cases. A subset of these observations (18 of 43; 41.9%) was attributed to maternal malignant neoplasms. These observational results suggest the need for a controlled trial to evaluate the potential of using cfDNA as an early biomarker of cancer.

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“…The cancers included four cases of lymphoma, one acute T-cell lymphoblastic leukaemia, one anal cancer, one CRC, and one cancer of neuroendocrine origin, all diagnosed within 39 (mean 16) weeks of the NIPT test. In a similar report, Dharajiya et al [117] identified 0.01% (55/ 450 000) with multiple copy number deviations for the test chromosomes in clinical NIPT. Followup information was available for 43 cases.…”

“…In a similar report, Dharajiya et al . identified 0.01% (55/450 000) with multiple copy number deviations for the test chromosomes in clinical NIPT. Follow‐up information was available for 43 cases.…”

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“…This is particularly likely when single monosomies or multiple rare aneuploidies, which are typically deemed lethal, are seen in an ongoing pregnancy. In a recent study of more than 450 000 NIPT samples, Dharajiya and coworkers found abnormal genomic profiles with multiple aneuploidies in 55 cases and subsequently confirmed the presence of maternal neoplasia in 40 of the 43 cases available for follow‐up . Interestingly, half of these involved uterine leiomyomas, which are considered to be benign neoplasms .…”

“…A challenging possibility associated with the finding of rare autosomal aneuploidies by NIPT is that of maternal cancer . This is particularly likely when single monosomies or multiple rare aneuploidies, which are typically deemed lethal, are seen in an ongoing pregnancy.…”

“…7 A challenging possibility associated with the finding of rare autosomal aneuploidies by NIPT is that of maternal cancer. [8][9][10][11] This is particularly likely when single monosomies or multiple rare aneuploidies, which are typically deemed lethal, are seen in an ongoing pregnancy. In a recent study of more than 450 000 NIPT samples, Dharajiya and coworkers found abnormal genomic profiles with multiple aneuploidies in 55 cases and subsequently confirmed the presence of maternal neoplasia in 40 of the 43 cases available for follow-up.…”