Product Sheets and Poster Presentations

Poster Presentations

PGDIS 2017

Mitochondrial genome coverage for copy number determination and detection of disease; the impact of WGA

Mutations in the mitochondrial genome (mtDNA) have been linked to diseases such as cancer, diabetes and deafness. Additionally, recent data suggests that mitochondrial genome load can impact implantation potential of euploid embryos. The selection of embryos for IVF transfer using the additional information from mitochondria requires an accurate and high coverage whole genome amplification (WGA) methodology. Additionally, since the mtDNA genome is 16,571bp in length and there are multiple copies per cell, this provides a model to evaluate performance of WGA technologies.

Aim – This study aimed to compare two different commercially available WGA kits; PicoPlex® (Rubicon Genomics) and DOPlify™ (RHS Ltd), evaluating overall mtDNA genome coverage along with coverage of 23 common mitochondrial mutations using NGS of the whole genome amplified single cells.

Download Mitochondrial genome coverage for copy number determination and detection of disease; the impact of WGA Poster

Development of a 5 hour PGS protocol for a day 5 fresh transfer

Chromosomal aneuploidies are the main cause of abnormal development of embryos and implantation failures. Preimplantation genetic screening (PGS) allows the selection of embryos with euploid chromosomal content and increases IVF treatment efficacy. PGS microarrays are traditionally hybridised for a minimum of 3 hours to overnight. The duration of hybridisation impacts on signal intensity, with shorter times typically reducing the array signal.

Aim – This study aimed to develop a novel hybridisation solution which could significantly decrease protocol duration, enabling same workday results and providing an opportunity for routine fresh transfers of PGS screened embryos.

Download  Development of a 5 hour PGS protocol for a day 5 fresh transfer Poster

Validation of EmbryoCellect® with SurePlex amplified embryo biopsies

Preimplantation genetic screening (PGS) array technologies are efficient and also very practical to perform without the need to batch large numbers of samples. The RHS’ EmbryoCellect® kit has previously been validated using euploid and commercially available aneuploid single cell and multi-cell samples for whole chromosome aneuploidy screening.

Aim – To determine the cross-compatibility of SurePlex amplified embryo biopsies and RHS’ EmbryoCellect® labelling and microarray hybridisation protocols for PGS.

Download  Validation of EmbryoCellect® with SurePlex amplified embryo biopsies Poster


ESHRE 2016 

Next Generation Sequencing (NGS) metrics following DOP-PCR whole genome amplification (WGA) of single and multi-cell samples for PGS

Whole genome amplification (WGA) is often used to generate sufficient DNA for downstream analysis.

The aim of this study was to compare Next Generation Sequencing (NGS) workflows and aligned read data metrics from a range of NGS platforms as models for Pre-implantation Genetic Screening (PGS) and Pre-implantation Genetic Diagnosis (PGD). Comparisons were made using single cell and 5-cell aliquots amplified utilizing the Reproductive Health Science Ltd proprietary DOP-PCR based WGA as described in the DOPlifyTM and EmbryoCellectTM kits.

Download ESHRE 2016 Poster Presentation on Next Generation Sequencing (NGS)


PGDIS 2016

Combined PGD and PGS: Enrichment of PGD genes during whole genome amplification

The aim of this study was to determine the feasibility of synchronous whole genome amplification and gene specific amplification by PCR for combined PGD for monogenic disorders and PGS for aneuploidy utilizing aCGH or NGS.

Download PDGIS 2016 Combines PGD and PGS : Enrichment of PGD genes during whole genome amplification Poster

Combined PGD/PGS Using Whole Genome Sequencing in a Model of Blastomer and Trophectoderm Biopsy

The aim of this study was to investigate the potential for combined preimplantation genetic diagnosis and screening of inherited and de novo mutations using whole genome sequencing.

Download PGD/PGS Using Whole Genome Sequencing in a Model of Balstomer and Trophectoderm Biopsy Poster