OBJECTIVE To report the outcomes of more than 100 cycles of preimplantation genetic diagnosis for monogenetic diseases. DESIGN Case series. SETTING Tertiary assisted reproductive centre in Hong Kong, where patients needed to pay for the cost of preimplantation genetic diagnosis on top of standard in-vitro fertilisation charges. PATIENTS Patients undergoing preimplantation genetic diagnosi...

INTRODUCTION The Familial Amyloid Polyneuropathy, with the world's largest focus in Portugal, is recognized by the National Board of Assisted Reproductive Technologies as a serious disease eligible for Preimplantation Genetic Diagnosis. This study aims to determine the prevalence of the use of Preimplantation Genetic Diagnosis in FAP carriers followed in Unidade Clínica de Paramiloidose, Centro...

since its first clinical application in early 90s, preimplantation genetic diagnosis (pgd) has became a powerful diagnostic procedure in clinical practice for avoiding the birth of an affected child as well as increasing the assisted reproductive technologies (art) outcome . the technique involves the screening of preimplantation embryos for chromosomal abnormalities in certain indications such...

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...

Inherited genetic diseases have been a problem for some families attempting to conceive a child. If affected parents or carriers of genetic disorders wished to avoid transmitting a condition to their child, they can choose to have prenatal diagnosis of their foetus. Amniocentesis or chorionic villus sampling enables cells from the foetus to be collected and sent for genetic analysis. They could...

Preimplantation genetic diagnosis (PGD) is a reproductive technology used with an in vitro fertilization (IVF) cycle to increase the potential for a successful pregnancy and delivery. The most common applications for PGD include testing for extra or missing chromosomes (aneuploidy screening), familial structural chromosome rearrangements, and diagnosis of genetic disease in couples of increased...

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....