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- W2888991516 abstract "The major fraction of cell-free DNA in maternal plasma is derived from maternal cells and only 5%–20% is of “fetal” origin. Therefore any whole or partial chromosomal imbalances in the maternal genome, also called copy number variations, will affect downstream analysis leading to false positive and false negative fetal aneuploidy calling. Moreover, copy number anomalies associated with maternal acquired malignancies such as leukemias, lymphomas, and solid tumors, have been shown to contribute to the detected cell-free DNA patterns, distorting the “fetal” aneuploidy analysis. Initially, awareness of these conditions has mainly been used to improve the overall analysis. However, detection of clinically important variants in the maternal genome provides the opportunity to diagnose maternal constitutional and acquired disorders. Presymptomatic detection of maternal malignancies can lead to early treatment, even during pregnancy. Thorough pre- and posttest counseling to discuss the risks and benefits of such incidental findings should be provided to all pregnant women who choose cell-free DNA-based prenatal screening. We call for more research on the socioeconomic and ethical aspects of this care, advocate the establishment of multidisciplinary teams to provide the best care in case of such unsolicited findings, and call for the development of international guidelines." @default.
- W2888991516 created "2018-09-07" @default.
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- W2888991516 date "2018-01-01" @default.
- W2888991516 modified "2023-10-16" @default.
- W2888991516 title "Maternal Constitutional and Acquired Copy Number Variations" @default.
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- W2888991516 doi "https://doi.org/10.1016/b978-0-12-814189-2.00010-4" @default.
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