1. OC06.01: Single cell sequencing of circulating extravillous trophoblasts for non‐invasive fetal copy number variant screening.
- Author
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Grati, F., Stampalija, T., Bertucci, E., Izzi, C., Volpe, P., Fabietti, I., Novelli, A., Pasquini, L., Ornaghi, S., Bevilacqua, E., Paladini, D., Ghi, T., Lattuada, D., Fregona, C., Sponzilli, A., Signorelli, M., Rembouskos, G., Caforio, L., Bagolan, P., and Restaldi, F.
- Subjects
DNA copy number variations ,HIGH-risk pregnancy ,CELL-free DNA ,PREGNANT women ,CELL separation - Abstract
This article discusses a study that aims to demonstrate the scientific validity of a novel cell-based non-invasive prenatal testing (cbNIPT) method for detecting fetal copy number variants (CNVs) using single cell sequencing of circulating extravillous trophoblasts (cEVTs). The study enrolled 1388 high-risk pregnancies and found a screen positive rate of 18.9% for aneuploidies and 11.2% for pCNVs. The results showed that cbNIPT was able to detect pCNVs <1 Mb in size, which is below the resolution of cell-free DNA screening. The authors conclude that analyzing cEVTs from maternal blood could significantly reduce the residual risk for pCNVs in early gestational weeks. [Extracted from the article]
- Published
- 2024
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