7.001 One-step multiplex PCR for preimplantation genetic diagnosis of Huntington's disease

Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of β-Thalassemia

Preimplantation genetic diagnosis (PGD) of single gene disorders, combined with HLA matching (PGD-HLA), has emerged as a tool for couples at risk of transmitting a genetic disease to select unaffected embryos of an HLA tissue type compatible with that of an existing affected child. Here, we present a novel one-step multiplex PCR to genotype a spectrum of STRs to simultaneously perform HLA typin...

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

Simplified Preimplantation Genetic Diagnosis of Common Determinants of Hemoglobin Bart’s Hydrops Fetalis Syndrome Using a Multiplex- Microsatellite PCR Assay

The high incidence of double-gene deletions in α-thalassemia increases the risk of having pregnancies with homozygous α0-thalassemia, the cause of the lethal hemoglobin (Hb) Bart’s hydrops fetalis syndrome. Preimplantation genetic diagnosis (PGD) has played an important role in preventing such cases. However, current gap-PCR based PGD protocol for deletional α-thalassemia required specific prim...

Non-disclosing preimplantation genetic diagnosis for Huntington disease.

OBJECTIVES Individuals at risk for Huntington disease face difficult decisions regarding their reproductive options. Most do not wish to pass on the gene for Huntington disease to their children, but may not be prepared themselves to undergo presymptomatic testing and learn their genetic status. For these reasons, many at-risk individuals with a family history of HD would choose a method of gen...

Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease

OBJECTIVE Preimplantation genetic diagnosis (PGD) is an assisted reproductive technique for couples carrying genetic risks. Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, with a prevalence rate of 1/2,500. In this study, we report on our experience with PGD cycles performed for CMT types 1A and 2F. METHODS Before clinical PGD, we assessed the amplification rate an...