#318 : Embryomap: A Flexible Tool for Preimplantation Biopsy Samples

Abstract

EmbryoMap is a streamlined workflow for chromosome copy number variation analysis and has been optimised and analytically validated to maximise the accuracy of results and reproducibility in the users’ hands. EmbryoMap’s improved chemistry enables increased assay flexibility by allowing various sample input types. Users can adapt EmbryoMap to lab requirements, including starting material of blastomere, blastocyst, polar body biopsies or various other sample input alternatives. EmbryoMap DNA libraries can also be used as starting material for concurrent testing in complementary workflows, increasing the capacity to perform testing from a single sample. In this study, we demonstrated EmbryoMap’s flexibility by performing concurrent CNV analysis followed by linkage-based haplotyping using the EmbryoMap library product as input for KaryoMap v2.0. Genomic DNA from commercial cell lines were used to evaluate the platform performance. EmbryoMap sequencing-ready libraries were used as input for Infinium KaryoMap v2.0 BeachChip arrays. EmbryoMap CNV analysis was performed with eMap software. KaryoMap v2.0 analysis was performed with kMap software. Sample performance was assessed using default QC settings for each platform. The reproducibility of haplotyping between the EmbryoMap libraries and bulk genomic DNA was evaluated. All samples passed EmbryoMap QC and produced karyotype matched CNV charts, qualifying the EmbryoMap libraries for KaryoMap v2.0 analysis. All samples passed the KaryoMap v2.0 QC metrics. The haplotyping result from EmbryoMap samples was highly concordant with the expected inheritance pattern derived from bulk genomic DNA. QC parameters for ADO and miscalls were within the expected range. This proof of concept demonstrates that EmbryoMap libraries are suitable for linkage-based analysis using KaryoMap v2.0. Additional experiments show these libraries can be used in additional workflows such as PGT-SR, and STR PGT-M, amongst others.