LAUSR

Introduction Preimplantation genetic screening (PGS) is performed during in vitro fertilization (IVF) cycles and allows to reveal chromosomal aberrations before pregnancy. PGS is usually performed using either array comparative genomic hybridization (aCGH) or next-generation sequencing (NGS) technologies. The aim of this work is to compare data from three different platforms, two of which are based on the aCGH method and the third one is based on the NGS method. Materials & Methods 13 human blastocysts from IVF cycles were analyzed in this work. Biopsy material DNA was amplified using whole genomic amplification kit «Picoplex WGA kit» according to the instruction of the manufacturer company. Next step was performed with two different technologies: aCGH and NGS. For comparative genomic hybridization we used two different platforms. The first was GenetiSure kit (Agilent) and data analysis was performed using Agilent CytoGenomics software, the second one was CytoSure kit (OGT) and data analysis was performed using CytoSure Internet Software. Next-generation sequencing was done using VeriSeq PGS Kit (Illumina) on MiSeq System (Illumina) and sequencing data analysis was performed using BlueFuse Software (Illumina) Expert interpretation of results: For 6 of 13 samples we observed full agreement of the results between three platforms. For 4 of 13 cases the agreement was partial: VeriSeq PGS (Illumina) and CytoSure (OGT) yeilded similar results while results of the GenetiSure (Agilent) differed. For 3 of 13 cases results of all three platforms were distinct. Conclusions Our data do not allow us to draw conclusions about advantages of one of the methods over the other. Data obtained after automatic data processing contain considerable amount of algorithm specific misinterpretations. Therefore, it is necessary to perform an expert analysis of the automatic reports. Concordance of the data from different approaches significantly increases after expert interpretation but never reaches full agreement. Further studies with larger sample sizes may help to elucidate the reasons of discordant results.