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OC06.01: Single cell sequencing of circulating extravillous trophoblasts for non‐invasive fetal copy number variant screening.

OC06.01: Single cell sequencing of circulating extravillous trophoblasts for non‐invasive fetal copy number variant screening.

Authors :
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.
Source :
Ultrasound in Obstetrics & Gynecology; Sep2024 Supplement 1, Vol. 64, p14-15, 2p
Publication Year :
2024

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]

Details

Language :
English
ISSN :
09607692
Volume :
64
Database :
Complementary Index
Journal :
Ultrasound in Obstetrics & Gynecology
Publication Type :
Academic Journal
Accession number :
179531977
Full Text :
https://doi.org/10.1002/uog.27754