Preimplantation genetic diagnosis (PGD) is a key technique in modern reproductive medicine. Originally developed to help couples who were at risk of transmitting single-gene genetic abnormalities to their children, the development of the FISH technique broadened chromosome analysis to include detection of more complex inherited abnormalities. The last decade has seen the development of aneuploidy screening (PGS) for infertile couples, using the same techniques as PGD but screening for as many chromosomes as possible. PGD has always been a controversial procedure and embryo manipulation and selection is still illegal in some countries. The second edition of this leading textbook describes all aspects of PGD, with chapters written by key international experts in the field. A must for anyone interested in learning more about PGD, it will be of interest to everyone working in the fields of IVF, genetic diagnosis, genetic counselling, and prenatal diagnosis - including clinicians, embryologists, nurses, and clinical scientists.
• Covers theoretical background on all aspects of PGD, including inherited disorders, prenatal diagnosis and IVF • Laboratory techniques described in detail, including the different types of biopsy and diagnosis • Ideal textbook for training courses and workshops on PGD
Preface; List of contributors; Part I. Background: 1. Introduction Joyce Harper; 2. Assisted reproductive technologies Joyce Harper, Alpesh Doshi and Paul Serhal; 3. Genetic basis of inherited disease Joep Geraedts and Joy Delhanty; 4. Genetic counselling Alison Lashwood; 5. Prenatal screening and diagnosis Anna David and Charles Rodeck; 6. Preimplantation embryo development Kay Elder; 7. Preimplantation genetics Joy Delhanty and Dagan Wells; Part II. Procedures Used in PGD: 8. Clinical aspects of preimplantation genetic diagnosis Christine de Die-Smulders, Maartje van Rij and Johannes Evers; 9. Polar body biopsy techniques Markus Montag, Katrin van der Ven and Hans van der Ven; 10. Cleavage stage embryo biopsy Anick De Vos; 11. Blastocyst biopsy Monica Parriego, Francesca Vidal and Anna Veiga; 12. Preimplantation genetic diagnosis for chromosome rearrangements Caroline Mackie Ogilvie and Paul N. Scriven; 13. Preimplantation genetic diagnosis for infertility Santiago Munne; 14. Preimplantation genetic diagnosis for sex-linked diseases and sex-selection for non-medical reasons Caroline Mackie Ogilvie and Paul N. Scriven; 15. Preimplantation genetic diagnosis for monogenic disorders: multiplex PCR and whole genome amplification for gene analysis at the single cell level Karen Sermon; 16. Quality control and quality assurance in preimplantation genetic diagnosis Alan Thornhill and Sjoerd Repping; Part III. Ethics and the Future: 17. Preimplantation genetic testing: normative reflections Guido de Wert; 18. Preimplantation genetic diagnosis: the future Leeanda Wilton.
'… large educational value … enjoyable to read and easy to understand, also if you are far from being an expert in the field.' Acta Obstetricia et Gynecologica