Maria Neofytou and Joris Robert Vermeesch 2018. Maternal Constitutional and Acquired Copy Number Variations. in: Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis Academic Press. pp. 179-188
| Chapter title | Maternal Constitutional and Acquired Copy Number Variations |
|---|---|
| Authors | Maria Neofytou and Joris Robert Vermeesch |
| 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. |
| Book title | Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis |
| Page range | 179-188 |
| Year | 2018 |
| Publisher | Academic Press |
| Publication dates | |
| Published | 2018 |
| ISBN | 9780128141892 |
| Digital Object Identifier (DOI) | https://doi.org/10.1016/b978-0-12-814189-2.00010-4 |
| Web address (URL) | http://dx.doi.org/10.1016/b978-0-12-814189-2.00010-4 |
| Journal | Noninvasive Prenatal Testing (NIPT) |