[Preimplantation genetic diagnosis].

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...

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

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-36: Genome Haplotyping and Detection of Meiotic Homologous Recombination Sites in Single Cells, A Generic Method for Preimplantation Genetic Diagnosis

Background: Haplotyping is invaluable not only to identify genetic variants underlying a disease or trait, but also to study evolution and population history as well as meiotic and mitotic recombination processes. Current genome-wide haplotyping methods rely on genomic DNA that is extracted from a large number of cells. Thus far random allele drop out and preferential amplification artifacts of...

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...

Preimplantation genetic diagnosis in clinical practice.

Preimplantation genetic diagnosis (PGD) represents an alternative to prenatal diagnosis and allows selection of unaffected IVF embryos for establishing pregnancies in couples at risk for transmitting a genetic disorder.