Validation of two whole genome amplification methods for PGD on monogenetic diseases and aneuploidy screening

Introduction: It is increasingly common to perform preimplantation genetic diagnosis (PGD) for both monogenetic disease and aneuploidy screening on a single embryo biopsy sample. However, different whole genome amplification (WGA) methods are adopted for this combined testing. Our experience showed that WGA used in aCGH was suboptimal for PGD by linkage analysis and gap-PCR (unpublished). Recently, next generation sequencing (NGS) has been used in aneuploidy screening as it allows a high throughput at a cost lower than aCGH. Here we compared two WGA methods on performance of linkage analysis and clinical use of the better performed method was validated on aneuploidy screening by NGS with prenatal samples of known karyotypes.