O8 Accuracy rates in biopsies performed on day-3 and day-5 embryos using CGHarray technology for PGS

The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening

“…Remarkably, although the results of single-cell aCGH (27,28) and early single-cell NGS-based research (29) were encouraging, limited amounts of DNA may impede the establishment of accurate PGD programs based on singlecell sequencing. This was demonstrated by Navin et al (29), who showed that the presence of sparse sequence coverage can translate into a nonviable clinical diagnosis scenario, giving a poor prognosis for clinical implementation of NGS-based PGD/PGS using a single-cell approach.…”

“…MDA is an isothermal method that gives relatively unbiased amplification and amplification products higher in size than PCR-based methods (43). Currently, commercially available PCR-based WGA methods have improved the WGA step for PGD/PGS, achieving 97%-99% of amplification efficiency when applied to single blastomeres (28,44).…”

New Tools for Embryo Selection: Comprehensive Chromosome Screening by Array Comparative Genomic Hybridization

“…In our program, we first validated the aCGH platform in single cells from embryos previously diagnosed as abnormal by FISH, obtaining similar error rates below three percent for both techniques [36]. Next, we confirmed that there were no differences in efficiency and accuracy when comparing day-3 and day-5 whole embryo array analysis [30]. This was further validated in another study using the same aCGH platform confirming the high efficiency of the platform: only 2.9% of embryos had no results, and the error rate when compared to FISH was 1.9% [37].…”