CNVs in Prenatal Tests & Maternal Malignancies

Publication indicating rare CNV signatures from a nationwide Dutch screening program

In a new publication in the Journal of Clinical Oncology CJ Heesterbeek, SM Aukema and the co-authors from the Dutch NIPT Consortium report about the incidence and diagnostic significance of incidential detection om maternal copy number variations in a large screening program aimed at detecting chromosomal imbalances in embryos, for a prediction of developmental abnormalities.


Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study.

Heesterbeek CJ, Aukema SM, Galjaard RH, Boon EMJ, Srebniak MI, Bouman K, Faas BHW, Govaerts LCP, Hoffer MJV, den Hollander NS, Lichtenbelt KD, van Maarle MC, van Prooyen Schuurman L, van Rij MC, Schuring-Blom GH, Stevens SJC, Tan-Sindhunata G, Zamani Esteki M, de Die-Smulders CEM, Tjan-Heijnen VCG, Henneman L, Sistermans EA, Macville MVE, Dutch NIPT Consortium.

J Clin Oncol PMID:35394817 | JCO

ResultsMalignancy suspicious-NIPT results were reported in 0.03% after genome-wide NIPT, and malignancies confirmed in 16 patients (16/48, 33.3%). Multiple chromosomal aberrations were seen in 23 of 48 patients with genome-wide NIPT, and a malignancy was confirmed in 16 patients (16/23, 69.6%).

NIPT data showed recurrent gains and losses in primary mediastinal B-cell lymphomas and classic Hodgkin lymphomas.

The authors of the study made nice use of the Progenetix for assembly and visualization of the detected CNVs (with some support from an hCNV community member 😄).

Congratulations for the very nice paper, connecting genetics and cancer genomics in the CNV domain!

Beacon v2 Cartoon

Figure 3 from the paper showing cfDNA detected CNVs in patients with a confirmed malignancy.