A. Kuliev – Atlas of Preimplantation Genetic Diagnosis (3rd edition, 2014)

Описание

Biopsy procedures are shifting
from the cleavage to the blastocyst stage, which seems to
have a much less detrimental effect on the viability of the
embryo. PGD for monogenic disorders and HLA typing
are performed together with 24-chromosome aneuploidy
testing in an attempt to improve pregnancy outcome in
couples of advanced reproductive age, while preimplantation
HLA typing is becoming a realistic hope for couples
with an affected child requiring HLA-compatible stem cell
transplantation treatment. The number of PGD cycles performed
annually is also steadily increasing to as many as
dozens of thousands, evidence that PGD has now become
an integral component of the current genetics and assisted
reproduction practices, changing the traditional concept of
prevention of congenital disorders based on prenatal diagnosis
and pregnancy termination, and allowing genetically
disadvantaged couples to reproduce normally, while
diminishing the risk of producing an abnormal offspring.
The current edition presents the data of the world’s largest
PGD series, while updating the current PGD technologies
and relevant information about its accuracy, reliability, and
safety. The detailed description of over 23 years of PGD experience
of the group that pioneered PGD by the introduction
of polar body analysis in 1990, initiated preimplantation HLA
typing for the stem cell transplantation treatment in 1999,
and first applied PGD for common late-onset diseases with
genetic predisposition in 2002 will be of a special value for
those who still face the challenge of setting up PGD services
in various areas of the world or of incorporating it within
existing assisted reproductive practices with the forthcoming
increase of requests from a highly sensitive group of at-risk
couples. The presentation of one of the world’s largest experiences
of PGD for HLA typing will clearly promote a wider
application of stem cell therapy, which is already a reality for
the increasing number of genetic and acquired conditions for
which there are still no available treatments. The description
of the collection of embryonic stem cells established in ongoing
PGD practice is also of specific interest, as it provides the
unlimited source and unique in vitro model for analyzing the
primary mechanisms of congenital disorders.
From PGD services for complicated cases obtained from
more than 100 PGD centers from all over the world, the
presented data contains the experience of performing PGD
for the unique or rare conditions that might not be seen in
a single center even during a lifetime. In addition, this edition
presents the first systematic experience of PGD for de
novo mutations that was not possible previously, summarizes
the extensive practical observation of PGD for various
cancers, reflecting growing public interest, and describes
the novel experience on PGD for inherited cardiac diseases,
allowing couples carrying genes predisposing for
cardiac disease to reproduce without much fear of having
offspring with these genes that create the risk of premature
or sudden death.
Finally, the current edition describes the first systematic
experience of PGD for monogenic disorders and preimplantation
HLA typing combined with 24-chromosome
aneuploidy testing, which demonstrates an improved
reproductive outcome in couples of advanced maternal age.
So this edition may be useful as a practical manual for the
planning and organization of the relevant component of
genetics services and the establishment and performance
of PGD within assisted reproductive practices. It may be
useful also for assisted reproductive laboratory specialists
as well as for reproductive biologists and medical and biology
students interested in advanced biomedical research.