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Preimplantation genetic screening 2.0: the theory

During the last few years a new generation of preimplantation genetic screening (PGS) has been introduced. In this paper, an overview of the different aspects of this so-called PGS 2.0 with respect to the why (what are the indications), the when (which developmental stage, i.e. which material should be studied) and the how (which molecular technique should be used) is given. With...

Europäische Datensammlung zur Präimplantationsdiagnostik seit 1999

Seit 25 Jahren gibt es die Präimplantationsdiagnostik (PID) als Alternative zur Pränataldiagnostik monogener, mitochondrialer und chromosomaler Erkrankungen. Nach In-vitro-Fertilisation (IVF) oder (meist) Intrazytoplasmatischer Spermieninjektion (ICSI) werden entweder Polkörperchen, Blastomere oder Ektodermzellen aus den Oozyten bzw. dem Präimplantationsembryo gewonnen, um sie...

Reproductive genetics at the crossroads of the European Society of Human Reproduction and Embryology and the European Society of Human Genetics: an update

Joep Geraedts 0 0 Department of Genetics and Cell Biology, Maastricht University , Maastricht, The Netherlands European Society of Human Genetics; European Society of Human Reproduction and

Präimplantationsdiagnostik in den Niederlanden

Im Jahr 1995 wurde die Präimplantationsdiagnostik (PID) auf experimenteller Ebene in Maastricht eingeführt. Seit 2003 ist sie Bestandteil des Erstattungssystems des niederländischen Ministry Public Health, Welfare and Sport. PID wird nur Paaren ermöglicht, die mit einem Risiko für eine schwerwiegende monogene Erkrankung, strukturellen Chromosomenanomalien oder mitochondrialen...

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy†

STUDY QUESTION How has the interface between genetics and assisted reproduction technology (ART) evolved since 2005?

Polar body array CGH for prediction of the status of the corresponding oocyte. Part II: technical aspects

M. Cristina Magli Markus Montag Maria Ko ster Luigi Muzi Joep Geraedts John Collins Veerle Goossens Alan H. Handyside Joyce Harper Sjoerd Repping Andreas Schmutzler Katerina Vesela Luca Gianaroli

What next for preimplantation genetic screening? A polar body approach!

Joep Geraedts John Collins Luca Gianaroli Veerle Goossens Alan Handyside Joyce Harper Markus Montag Sjoerd Repping Andreas Schmutzler Screening of human preimplantation embryos for numerical

Polar body array CGH for prediction of the status of the corresponding oocyte. Part I: clinical results

BACKGROUND Several randomized controlled trials have not shown a benefit from preimplantation genetic screening (PGS) biopsy of cleavage-stage embryos and assessment of up to 10 chromosomes for aneuploidy. Therefore, a proof-of-principle study was planned to determine the reliability of alternative form of PGS, i.e. PGS by polar body (PB) biopsy, with whole genome amplification...

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes

Little is known about the load of mutations and polymorphisms in the mitochondrial DNA (mtDNA) of human oocytes and the possible effect these mutations may have during life. To investigate this, we optimised at the single cell level the recently developed method to screen the entire mtDNA for mainly heteroplasmic mutations by denaturing high performance liquid chromatography...

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 and one at the blastocyst stage. It is probable that the high levels of chromosomal mosaicism at cleavage stages, which may result in...

What next for preimplantation genetic screening?

Preimplantation genetic diagnosis for aneuploidy screening (preimplantation genetic screening—PGS) has been used to detect chromosomally normal embryos from subfertile patients. The main indications are advanced maternal age (AMA), repeated implantation failure, repeated miscarriages and severe male factor infertility. Many non-randomized PGS studies have been published and...