Preimplantation Genetic Diagnosis for Congenital Immunodeficiencies

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...

Preimplantation genetic diagnosis.

This article covers the rapidly advancing field of preimplantation genetic diagnosis (PGD), the molecular genetic analysis of cells taken from embryos formed through in vitro fertilization (IVF). The article focuses on current practices in patient management, relevant IVF and PGD procedures, molecular methods used in the genetic analysis, and technical difficulties that can affect test results....

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...