Where are we going with preimplantation genetic diagnosis?

I-36: Preimplantation Genetic Diagnosis - Where Have We Been and Where Are We Going

Preimplantation genetic diagnosis (PGD) is now considered routine in IVF laboratories with micromanipulation capability and access to genetic diagnostic services. The past two decades have witnessed a dramatic increase in the use of PGD, the number of cycles performed, and the indications for which PGD has been used. This increase has been mirrored by a slow, but steady, increase in the range o...

O-27: Preimplantation Genetic Diagnosis in Prevention of Genetic Diseases -Diagnostic of Spinal Muscular Atrophy (SMA)

Background: Preimplantation genetic diagnosis - PGD is currently an established procedure allowing genetic research of oocyte or embryo before implantation to the uterus. Spinal muscular atrophy (SMA) is a neurodegenerative disorder, being the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of which type I (W...

I-13: Transcriptome Dynamics of Human and Mouse Preimplantation Embryos Revealed by Single Cell RNA-Sequencing

Background: Mammalian preimplantation development is a complex process involving dramatic changes in the transcriptional architecture. However, it is still unclear about the crucial transcriptional network and key hub genes that regulate the proceeding of preimplantation embryos. Materials and Methods: Through single-cell RNAsequencing (RNA-seq) of both human and mouse preimplantation embryos, ...

Tips and Tricks in Fluorescence In-situ Hybridization (FISH)- based Preimplantation Genetic Diagnosis /Screening (PGD/PGS)

As numerical and structural defects in chromosomes are an inevitable consequence of IVF, Pre-implantation genetic diagnosis and screening (PGD/PGS) methods are used for detecting abnormalities in embryos before implantation to the uterus to increase the successful rate of IVF. Pre-implantation genetic diagnosis and screening approaches can be achieved by different techniques such as NGS, CGH an...

Assessment of Preimplantation Genetic Diagnosis (PGD) for Childhood-onset Spinal Muscular Atrophy (SMA) Using Duplex Fluorescent PCR