P-732 High degree of concordance between the genetic results of Noninvasive Preimplantation Genetic Testing for Aneuploidies (NIPGT-A) and those obtained with analysis of the whole embryo

Abstract Study question What is the degree of concordance between Noninvasive Preimplantation Genetic Testing for Aneuploidies (NIPGT-A) versus genetic analysis whole embryo? Summary answer Cell free DNA ploidy evaluated by NIPGT-A presents very good that from embryo cells (Cohen's Kappa coefficient: 0.84). known already After many years using PGT-A, there are still concerns, such as risks invasive action and difficulties in correct interpretation mosaicism, which may lead to errors false-positive false-negative results. Recently, a new technology has arisen cell-free present spent culture media human blastocysts. However, few analyses (gold standard). design, size, duration This cohort study included total 56 blastocysts vitrified on Day-5 were previously biopsied PGT-A. All embryos had diagnosis aneuploidy donated under informed consent patients following Human Medical Authority regulations. Blastocysts thawed cultured 15µl drops medium oil. their expansion(4-8 hours), corresponding transferred PCR tubes stored at -80 °C until analysis. Participants/materials, setting, methods all samples(spent embryo) was amplified MALBAC® technology(Yikon Genomics). The concentration product measured Qubit 3.0Fluorometer(Thermo Fisher Scientific). samples subjected next-generation sequencing (NGS) Illumina MiSeq® system. status results obtained ChromGoTM software(Yikon Genomics) compared determine accuracy screening chromosomal abnormalities each embryo. Main role chance successfully amplified. Comparing whole-embryo (Table 1), positive predictive value (PPV) 93.5%, rate (FPR) 6.5%. Agreement showed coefficient