Preimplantation Genetic Diagnosis 2nd Edition

Preimplantation Genetic Diagnosis Edition 2Preimplantation 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.

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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.

Preimplantation Genetic Diagnosis 2nd Edition
by Joyce Harper (Editor)
ISBN-13: 978-0521884716
ISBN-10: 9780521884716

Preimplantation Genetic Diagnosis 2nd Edition – Contents

List of Contributors vi
Preface viii
Section 1: Background
1 Introduction to preimplantation genetic
diagnosis 1
Joyce C. Harper
2 Assisted reproductive technologies 48
Joyce C. Harper, Alpesh Doshi, and Paul Serhal
3 Genetic basis of inherited disease 73
Joep Geraedts and Joy Delhanty
4 Genetic counseling 85
Alison Lashwood
5 Prenatal screening and diagnosis 95
Anna L. David and Charles H. Rodeck
6 Preimplantation embryo development 117
Kay Elder
7 Preimplantation genetics 137
Joy Delhanty and Dagan Wells
Section 2: Procedures used
in preimplantation genetic
diagnosis
8 Clinical aspects of preimplantation genetic
diagnosis 151
Christine de Die-Smulders, Maartje van Rij, and
Johannes Evers
9 Polar body biopsy 166
Markus Montag, Katrin van der Ven, and
Hans van der Ven
10 Cleavage-stage embryo biopsy 175
Anick De Vos
11 Blastocyst biopsy 186
Monica Parriego, Francesca Vidal, and Anna Veiga
12 Preimplantation genetic diagnosis for
chromosome rearrangements 193
Caroline Mackie Ogilvie and Paul N. Scriven
13 Preimplantation genetic diagnosis for
infertility (PGS) 203
Santiago Munné
14 Preimplantation genetic diagnosis for
sex-linked diseases and sex selection for
non-medical reasons 230
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 237
Karen Sermon
16 Quality control and quality assurance in
preimplantation genetic diagnosis 247
Alan Thornhill and Sjoerd Repping
Section 3: Ethics and
the future
17 Preimplantation genetic testing: normative
reflections 259
Guido de Wert
18 Preimplantation genetic diagnosis:
the future 274
Leeanda Wilton
Index 286


Preimplantation Genetic Diagnosis 2nd Edition – Section 1

Chapter 1

Background
Introduction to preimplantation genetic diagnosis

Key points
• Preimplantation genetic diagnosis (PGD) was first applied in 1988 using a polymerase chain reaction (PCR) protocol to amplify a sequence on the Y chromosome for embryo sexing for patients carrying X-linked disease.
• Patients have to go through in vitro fertilization (IVF) so that their embryos may be generated in vitro. Cells are removed from oocytes or embryos and used for the genetic diagnosis. Unaffected embryos are transferred
to the patient.
• The most common biopsy procedure is cleavage-stage biopsy, but biopsy of polar bodies and trophectoderm cells is performed  clinically.
• The indications for PGD are: monogenic disorders, chromosome abnormalities, sexing, or specific diagnosis of X-linked disease.
• PGD technology has been used to try and improve the pregnancy rate for infertile patients by screening for aneuploidies. Indications include advanced maternal age, repeated implantation failure, and repeated miscarriages (preimplantation genetic screening; PGS).
• Fluorescent in situ hybridization (FISH) is the technique used to analyze chromosomes in the biopsied cells, and is the method of choice for embryo sexing. It is also used for chromosome abnormalities and aneuploidy screening.
• PCR is the technique used to detect monogenic disorders but it has been hampered by problems with contamination and allele dropout.
• PGD has stimulated much ethical debate. Many countries have legislation controlling PGD and in some countries cleavage-stage and blastocyst biopsy are illegal. Social sexing is illegal in Europe and other countries.
• The first 20 years has shown major advances in the field of PGD. The next 20 years may include the use of arrays for examining all the chromosomes, multiple genes and gene expression. PGD may be used for all IVF patients to select the genetically “best” embryo.
• The European Society for Human Reproduction and Embryology (ESHRE) PGD Consortium has collected nine years of data on PGD and PGS. Five working groups have been set up to look at PGS, accreditation, the database, guidelines, and misdiagnosis.

Additionally a pediatric follow-up and external quality assessment for FISH and PCR have been developed.
Introduction Preimplantation genetic diagnosis (PGD) was developed out of a need to provide an alternative to prenatal diagnosis for couples at risk of transmitting a genetic disease to their children. The options for such couples
are: to remain childless; not to undergo genetic testing (reproductive roulette); or to go through prenatal diagnosis, PGD, gamete donation, or adoption.

These are all difficult reproductive options. The majority of couples will opt for prenatal diagnosis by chorionic villus sampling (CVS) or amniocentesis (see Chapter 5). The procedures themselves take a few minutes, and for recessive disorders the couple have only a 25 percent chance of an affected pregnancy; with a dominant disorder this rises to 50 percent. But if the pregnancy is affected the couple have to decide if they wish to continue or consider termination. Neither is an easy option. Another advantage of prenatal diagnosis is ……………..

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