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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.
- 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