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Generation and Validation of Reference Standards for Non-Invasive Prenatal Testing (NIPT)
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
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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 »
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