Innovative method for reducing uninformative calls in non-invasive prenatal testing
Abstract
Non-invasive prenatal testing or NIPT is currently among the top researched topic in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve high sensitivity and specificity, they still struggle with a considerable number of samples that cannot be concluded with certainty. Such uninformative results are often subject to repeated blood sampling and re-analysis, usually after two weeks, and this period may cause a stress to the future mothers as well as increase the overall cost of the test. We propose a supplementary method to traditional z-scores to reduce the number of such uninformative calls. The method is based on a novel analysis of the length profile of circulating cell free DNA which compares the change in such profiles when random-based and length-based elimination of some fragments is performed. The proposed method is not as accurate as the standard z-score; however, our results suggest that combination of these two independent methods correctly resolves a substantial portion of healthy samples with an uninformative result. Additionally, we discuss how the proposed method can be used to identify maternal aberrations, thus reducing the risk of false positive and false negative calls. Keywords: Next-generation sequencing, Cell-free DNA, Uninformative result, Method, Trisomy, Prenatal testing
Cite
@article{arxiv.1806.08552,
title = {Innovative method for reducing uninformative calls in non-invasive prenatal testing},
author = {Jaroslav Budis and Juraj Gazdarica and Jan Radvanszky and Gabor Szucs and Marcel Kucharik and Lucia Strieskova and Iveta Gazdaricova and Maria Harsanyova and Frantisek Duris and Gabriel Minarik and Martina Sekelska and Balint Nagy and Jan Turna and Tomas Szemes},
journal= {arXiv preprint arXiv:1806.08552},
year = {2018}
}