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

Автор: A. Kuliev
Название книги: Atlas of Preimplantation Genetic Diagnosis (3rd edition, 2014)
Формат: PDF
Жанр: Медицина
Страницы: 324
Качество: Изначально компьютерное, E-book

Based on one leading center’s experience with over 100,000 cases, the new edition of this extensively illustrated atlas provides a detailed manual for procedures and techniques in preimplantation genetic diagnosis. New topics in this edition include de novo mutations, diseases with genetic predisposition, and HLA typing. The book provides insight from authors who are pioneers in some of the procedures described.

Preimplantation genetic diagnosis is currently an established
option for couples at risk for producing offspring
with genetic disorders. With this option, they no longer
have to face prenatal diagnosis and potential termination
of affected pregnancies, but may from the very onset plan
having only unaffected pregnancies and births of healthy
offspring free of genetic disease. PGD can now be performed
with an extremely high reliability, safety, and accuracy,
reaching over 99% in leading PGD centers. Moreover,
because of social or religious reasons affecting pregnancy
termination policy in some populations and ethnic groups,
PGD may be the only approach in preventing genetic disease
and having a healthy child in those social settings.
Since the Second Atlas Edition, there have been dramatic
technological developments that have raised PGD to
the next level in every aspect, making possible the application
of new and more advanced methods. Fluorescent
in situ hybridization (FISH)–based methods for testing
chromosomal aneuploidies and translocations are
steadily being replaced by microarray technology for testing
all 24 chromosomes.