Prenatal Genetic Testing Technology
DOWNLOAD
Download Prenatal Genetic Testing Technology PDF/ePub or read online books in Mobi eBooks. Click Download or Read Online button to get Prenatal Genetic Testing Technology book now. This website allows unlimited access to, at the time of writing, more than 1.5 million titles, including hundreds of thousands of titles in various foreign languages. If the content not found or just blank you must refresh this page
Prenatal Genetic Testing Technology
DOWNLOAD
Author : United States. Congress. Senate. Committee on Commerce, Science, and Transportation. Subcommittee on Science, Technology, and Space
language : en
Publisher:
Release Date : 2013
Prenatal Genetic Testing Technology written by United States. Congress. Senate. Committee on Commerce, Science, and Transportation. Subcommittee on Science, Technology, and Space and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013 with Genetic counseling categories.
Technologies For Prenatal Diagnosis And Assessment Of Genetic Disorders
DOWNLOAD
Author : Fan Jin
language : en
Publisher: Frontiers Media SA
Release Date : 2020-06-22
Technologies For Prenatal Diagnosis And Assessment Of Genetic Disorders written by Fan Jin and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-06-22 with categories.
Birth defects are one of the major public health concerns in the world, as they cause approximately 20% of infant deaths. Genetic disorders, including chromosome abnormalities and single gene disorders, are the most common causes of birth defects for which there is no efficient treatment. Prenatal genetic screening and diagnosis allow early identification of affected conceptuses and facilitates reproduction planning or counseling. Molecular technologies have developed rapidly in recent years and have been widely used in screening and diagnosis of genetic disorders at all stages of prenatal development (e.g. pre-implantation, embryonic and fetal). However, their performance still needs to be validated and assessed as the balance between their advantages and disadvantages need to be discussed. With the ability to detect copy number variations (CNVs), polyploidy, uniparental disomy and maternal cell contamination, SNP-based chromosomal microarray analysis (CMA) is showing the unique importance in diagnosing chromosomal abnormalities. The interpretation of CNVs remains a challenge; however, ultrasound and biochemical screening improve the diagnosis of fetal chromosomal abnormalities. Whole exome sequencing (WES) and whole genome sequencing (WGS) play increasingly significant roles in prenatal and carrier screening for genetic disorders. NGS-based non-invasive prenatal screening (NIPS) is now widely used for detecting common autosomal aneuploidies and has shown the potential of detecting microdeletions and microduplications. However, further investigations of the sensitivity and accuracy are required and large-scale data is necessary to evaluate the performance and clinical applications of current and new methods. Recently, reports of application of newer technologies in prenatal setting became available. Examples include third generation sequencing (reading the nucleotide sequences at the single molecule level), digital PCR (used for direct quantification of DNA) and cell-based NIPT. In the followed listed papers, the authors showed their successful experiences in identifying novel mutation, detecting low-level mosaicism or de novo mutations limited in germline cells, investigating the association of the CNVs with specific phenotypic alterations by using WES, CMA, digital PCR and some other new-developed molecular techniques. More interesting, the authors also presented a report about the evaluation of diagnostic yield in fetal WES, which suggested a new tendency to apply WES or WGS directly for prenatal diagnosis. We believed that the efficiency of scanning causative mutations and prenatal or preimplantion genetic diagnosis for genetic disorders will further improved based on the technologies of whole genomic sequencing with further improved output and resolution. New techniques, such as quick-WES for the newborn in intensive care unit, direct-WGS for prenatal diagnosis and non-invasive test for fetal monogenic disorders, will become available in the near future.
Women And Prenatal Testing
DOWNLOAD
Author : Karen H. Rothenberg
language : en
Publisher: Ohio State University Press
Release Date : 1994
Women And Prenatal Testing written by Karen H. Rothenberg and has been published by Ohio State University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1994 with Bioethics categories.
"For pregnant women in the 1990s, technological developments have ushered in new and expanding reproductive genetic testing options. Some herald these procedures as advances providing women with previously unavailable information about their pregnancies. Others contend that with this surge of information come increasing and perhaps unwarranted obligations: while some women have greater knowledge about their pregnancies, they also face far more complex decisions and a greater pressure to do as much as is technologically possible to ensure the birth of a healthy child." "This book focuses on the major women's issues surrounding the development and application of reproductive genetic testing. Although much has been written about the biological safety and efficacy of these technologies, few publications have addressed their psychological, sociocultural, ethical, legal, and political impact on women and their experience of pregnancy." "The first of three sections provides the contextual framework in which the debate should be analyzed. The second section sets forth the philosophical foundations and complex ethical and legal questions that need to be addressed, and the final section delineates a variety of perspectives on the psychological and sociocultural issues raised by reproductive genetic testing. These fourteen essays on the cutting edge of the debate are essential reading for anyone interested in women's studies, human genetics, health law; and bioethics and prenatal care providers."--BOOK JACKET.Title Summary field provided by Blackwell North America, Inc. All Rights Reserved
Prenatal Genetic Testing Technology
DOWNLOAD
Author : United States. Congress
language : en
Publisher: Createspace Independent Publishing Platform
Release Date : 2017-09-30
Prenatal Genetic Testing Technology written by United States. Congress and has been published by Createspace Independent Publishing Platform this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-09-30 with categories.
Prenatal genetic testing technology : science, policy, and ethics : hearing before the Subcommittee on Science, Technology, and Space of the Committee on Commerce, Science, and Transportation, United States Senate, One Hundred Eighth Congress, first session, November 17, 2004.
Before Birth
DOWNLOAD
Author : Elizabeth Ettorre
language : en
Publisher: Routledge
Release Date : 2017-10-23
Before Birth written by Elizabeth Ettorre and has been published by Routledge this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-10-23 with Social Science categories.
This title was first published in 2001. Featuring contributions from the UK, Finland, The Netherlands and Greece, this unique book explores the ongoing tensions and important ethical, legal and social issues related to the development of prenatal screening and the growth of new genetic technologies.
Prenatal Diagnostic Testing For Genetic Disorders
DOWNLOAD
Author : Gian Carlo Di Renzo
language : en
Publisher: Springer Nature
Release Date : 2023-07-21
Prenatal Diagnostic Testing For Genetic Disorders written by Gian Carlo Di Renzo and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-07-21 with Medical categories.
This comprehensive volume covers all aspects of the revolution in prenatal diagnosis brought about by the introduction of non-invasive prenatal testing (NIPT), which primarily relies on the detection of free fetal DNA circulating in maternal blood from the early stages of pregnancy. The book explores the potential of NIPT to provide full genome screening of the fetus and identify many common or rare disorders. The counseling process, as well as the limitations and pitfalls of various techniques used to perform NIPT, are described, evaluated, and critically discussed by renowned international experts. The book also compares the new technology with more conventional tests, preimplantation diagnosis, and the invasive procedures currently in use. This book will be a valuable resource for gynecologists, obstetricians, geneticists, maternal-fetal medicine specialists, pathologists, neonatologists, reproductive medicine specialists, midwives, and anyone interested in prenatal genetic diagnosis.
Assessing Genetic Risks
DOWNLOAD
Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 1994-01-01
Assessing Genetic Risks written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1994-01-01 with Medical categories.
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Noninvasive Prenatal Testing Nipt
DOWNLOAD
Author : Lieve Page-Christiaens
language : en
Publisher: Academic Press
Release Date : 2018-08-19
Noninvasive Prenatal Testing Nipt written by Lieve Page-Christiaens and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-08-19 with Medical categories.
Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation. Provides a thorough, practical examination of the history of NIPT, NIPT laboratory techniques and bioinformatics, NIPT screening and diagnostics for a wide range of disorders and birth defects Presents leading, international experts who discuss the application of NIPT in early screening for common aneuploidies, fetal chromosome anomalies, autosomal trisomies, fetal blood group typing, and maternal constitutional and acquired copy number variants Includes full color imagery that enhances concept illustration, along with detailed descriptions of the benefits (and limitations) of NIPT Offers clinicians, researchers, genetic counselors and reproductive specialists of all kinds the required background information, methodologies and essential patient counseling techniques
Practical Preimplantation Genetic Testing
DOWNLOAD
Author : Anver Kuliev
language : en
Publisher: Springer Nature
Release Date : 2020-05-29
Practical Preimplantation Genetic Testing written by Anver Kuliev and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-05-29 with Health & Fitness categories.
Fully revised and updated with the most current information, the third edition of this practical clinical text covers all aspects of the rapidly advancing field of preimplantation genetic testing (PGT). Although PGT has become an established procedure for genetics and assisted reproduction practices over the last decade, its wider application has occurred after the introduction of next generation technologies in the last few years, necessitating this much-needed new edition. This will include, first of all, an update on PGT accuracy, reliability and safety, to ensure improved access to PGT for those who may benefit greatly from this technology. New content will also present progress in the primary prevention of genetic disorders, which now discusses approaches for prospective identification of at-risk PGT couples through the application of the extended gene testing panels. In fact, because of dramatic technological improvements in all aspects of PGT, most of the sections have been updated, with the addition of new sections on next generation technologies and universal PGT with combined testing for single gene and chromosomal disorders, which has previously presented a challenge. The guiding PGT strategies for different genetic disorders are presented, with emphasis on the most complicated cases that might be of special utility in the wider application PGT technologies worldwide. Additionally, a new section will be devoted to borderline indications, which will include common adult-onset conditions with genetic predisposition and non-genetic indications, expanding PGT applications to heart disease and cancer and the use of PGT for stem cell transplantation treatment of genetic and acquired disorders, where unique outcome data has become available. Combining the latest research and the most cutting-edge practice, Practical Preimplantation Genetic Testing, 3e is an excellent resource for clinical reproductive medicine specialists, genetic counselors, researchers and analysts.
Cystic Fibrosis And Dna Tests
DOWNLOAD
Author :
language : en
Publisher: Office of Technology Assessment
Release Date : 1992
Cystic Fibrosis And Dna Tests written by and has been published by Office of Technology Assessment this book supported file pdf, txt, epub, kindle and other format this book has been release on 1992 with Medical categories.