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What happens with our genome and epigenome in the first fundamental days of our development? How can this be analysed? What do we need to know when faced with patients' questions about their own infertility, or how to prevent the birth of affected children? For the first time, this book brings together both scientists' and clinicians' viewpoints on human reproductive genetics, making for a more comprehensive discussion of interest to ART professionals and developmental biologists. With worldwide leaders in this burgeoning field guiding the reader through from the basics to the most exciting recent discoveries, this book presents the wider picture of how reproductive medicine and biology links with genetics. The editors also address the new challenges raised in how to treat and counsel patients at fertility and genetic clinics, as well as eliciting vivid bioethical debates. This book brings together genetics, reproductive biology and medicine for practitioners and geneticists.
The European Society of Human Reproduction and Embryology (ESHRE) Preimplantation Genetic Diagnosis (PGD) Consortium data collection shows that the most widely used biopsy procedure is indeed cleavage-stage biopsy. Cleavage-stage biopsy of human preimplantation embryos always involves two steps: opening of the zona pellucida (ZP) and subsequent removal of cellular material. The opening of the ZP by laser technology has been introduced in clinical embryo biopsy practice more recently. Compaction in the mammalian preimplantation embryo is an essential event that leads to the formation of the trophectoderm, the inner cell mass and the blastocele. Embryos for PGD by means of PCR are ideally obtained by micro-injection of a single sperm cell in order to avoid contamination with naked sperm DNA. Embryo post- biopsy development can be evaluated on a day, where doubling of cells and/or signs of compaction represents good evolution.
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