Autor: |
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., Restaldi, F. |
Předmět: |
|
Zdroj: |
Ultrasound in Obstetrics & Gynecology; Sep2024 Supplement 1, Vol. 64, p14-15, 2p |
Abstrakt: |
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] |
Databáze: |
Complementary Index |
Externí odkaz: |
|