Posters
« Back
Generation and Validation of Reference Standards for Non-Invasive Prenatal Testing (NIPT)
EP29330
Generation and Validation of Reference Standards for Non-Invasive Prenatal Testing (NIPT)
Submitted on 24 Oct 2018

A.Mele, E. Surmann, R. Santos, D. Anderson, J. Wickenden, D. Pasupathy, B. Thilaganathan, A. Khalil
Horizon Discovery Group
This poster was presented at American Society of Human Genetics Annual Meeting 2018
Poster Views: 230
View poster »
Poster Abstract
Here we describe our unique approach on generating NIPT reference materials from clinical fetal tissues with or without chromosomal aneuploidies, as well as from corresponding maternal and paternal samples. We have generated immortalized cell lines that have been extensively characterized by karyotyping and quantitative polymerase chain reaction (qPCR) to confirm genomic stability and retainment of the additional chromosome over several cell culture passages. We show that fragmentation of maternal and fetal DNA to 160 base pairs and subsequent blending into buffer or synthetic plasma at different fetal fractions can closely mimic the size distribution profile of clinical cell-free DNA (cfDNA). This reference material demonstrated superior performance across various NIPT platforms in our beta testing study. We are the first to generate commutable NIPT reference standards containing defined fractions of fetal DNA in a matched maternal DNA background that can be used by platform developers and laboratories to validate and routinely monitor assay performance. The addition of the corresponding paternal cell lines will allow us to further extend our material in the future by introducing mutations that mimic single gene disorders inherited by the father.Report abuse »
Creative Commons

Related Posters


Endocrine Disruptors and Impact of Nutritional Intervention on Hypothyroid Women - A Study in Kolkata
Swapan Banerjee

Strategies for High-Titer Protein Expression Using the ExpiCHO and Expi293 Transient Expression Systems
Chao Yan Liu, Jian Liu, Wanhua Yan, Kyle Williston, Katy Irvin, Henry Chou, Jonathan Zmuda

A Chemically-Defined Baculovirus-Based Expression System for Enhanced Protein Production in Sf9 Cells
Maya Yovcheva, Sara Barnes, Kenneth Thompson, Melissa Cross, Katy Irvin, Mintu Desai, Natasha Lucki, Henry Chiou, Jonathan Zmuda

Development of an in vitro Model System for Newcastle Disease Virus Persistence in Bladder Cancer Cells
Ahmad U1,, Chan SC2, Chau DM1, Chia SL5, Abdullah S1,3, Yusoff K5 & Veerakumarasivam A1,4*

The EurOPDX EDIReX project: towards a European Research Infrastructure on patient-derived cancer models
E. Vinolo 1, J.P. Morris 1, D.G. Alférez 2, J. Arribas 3,4,5, C. Bernadó 3,4,5, A. Bertotti 6, A. Bruna 7, A.T. Byrne 8, C. Caldas 7, R.B. Clarke 2, N. Conte 9, R. Corsi 10, S. Corso 6, M. Crespo 3, A. Dahmani 11, V. Dangles-Marie 11, D. Decaudin 11, Z. Dudová 12, A. Fiori 6, S. Giordano 6, M. Hauptsmann 13, M. Hidalgo 14, C. Isella 6, S. de Jong 15, J. Jonkers 13, A. Křenek 12, O. Krijgsman 13, D. Kouřil 12, J.C. Lacal 14, L. Lanfrancone 16, E. Leucci 17, G.M. Mælandsmo 18, E. Marangoni 11, J. Mason 9, M.Th. Mayrhofer 19, A. Mazzocca 6, T.S. Meehan 9, E. Montaudon 11, F. Nem