Pubblicazioni scientifiche

The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis
Abstract Preimplantation genetic diagnosis (PGD) was first performed over 20 years ago and has become an accepted part of genetic testing and assisted reproduction worldwide. ...

Sequential comprehensive chromosome analysis on polar bodies, blastomeres and trophoblast: insights into female meiotic errors and chromosomal segregation in the preimplantation window of embryo development.
Abstract STUDY QUESTION: What is the optimal stage from oocyte through preimplantation embryo development for biopsy and preimplantation

Array comparative genomic hybridization: its role in preimplantation genetic diagnosis
Purpose of review: Embryo assessment is a crucial component to the success of in vitro ...

Molecular Genetic Analysis of Single Cells
Preimplantation genetic diagnosis (PGD) has known a considerable ...

PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization
BACKGROUND: Fluorescence in-situ hybridisation (FISH) is the most widely used method for detecting unbalanced chromosome rearrangements on preimplantation embryos. FISH is known to have several well-documented technical limitations which may lead to ...

ESHRE PGD consortium best practice guidelines for amplification-based PGD.
In 2005, the European Society for Human Reproduction and Embryology (ESHRE) PGD Consortium published a set of Guidelines for Best Practice PGD to give information, support and guidance to potential, existing and fledgling PGD programmes. The ...

Polymerase chain reaction-based detection of chromosomal imbalances on embryos: the evolution of preimplantation genetic diagnosis for chromosomal translocations.
OBJECTIVE: To develop and assess a polymerase chain reaction (PCR)-based preimplantation genetic diagnosis (PGD) approach for detection of chromosomal imbalances in embryos. DESIGN: A prospective study of embryos derived from chromosome translocation...

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.
Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. Most patients with an SPG3A mutation present with a pure phenotype and early-onset disease, although complicated forms with ...

What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium steering committee.
Since 2004, there have been 11 randomized controlled trials (RCTs) mainly for advanced maternal age (AMA), which have shown no benefit of performing preimplantation genetic screening (PGS). Ten of the RCTs have been performed at the cleavage stage ...

The experience of two European preimplantation genetic diagnosis centres on human leukocyte antigen typing.
BACKGROUND Two European centres report on human leukocyte antigen (HLA) typing of preimplantation embryos for haematopoietic stem cell (HSC) transplantation: 'UZ Brussel' in Brussels and 'Genoma' in Rome. Both centres have 6 years' experience with ...

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