Prenatal Diagnosis

Prenatal Diagnosis PDF Author: Brynn Levy
Publisher: Humana
ISBN: 9781493988877
Category : Science
Languages : en
Pages : 0

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Book Description
This second edition volume expands on the first edition with more detailed methodologies on prenatal testing and diagnosis, and also covers next-generation sequencing techniques. The chapters in this book are divided into three sections: preimplantation genetic testing, traditional prenatal testing, and non-invasive prenatal testing. This book covers topics such as molecular testing for preimplantation genetic diagnosis of single gene disorders; DNA extraction from various types of prenatal specimens; prenatal diagnosis of cystic fibrosis and Tay-Sachs disease; chromosomal SNP microarrays; and isolation of cell-free DNA from maternal plasma. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and thorough, Prenatal Diagnosis, Second Edition is a valuable resource for any researcher interested in reproducing these techniques in their clinical laboratories.

Prenatal Diagnosis

Prenatal Diagnosis PDF Author: Brynn Levy
Publisher: Humana
ISBN: 9781493988877
Category : Science
Languages : en
Pages : 0

Get Book Here

Book Description
This second edition volume expands on the first edition with more detailed methodologies on prenatal testing and diagnosis, and also covers next-generation sequencing techniques. The chapters in this book are divided into three sections: preimplantation genetic testing, traditional prenatal testing, and non-invasive prenatal testing. This book covers topics such as molecular testing for preimplantation genetic diagnosis of single gene disorders; DNA extraction from various types of prenatal specimens; prenatal diagnosis of cystic fibrosis and Tay-Sachs disease; chromosomal SNP microarrays; and isolation of cell-free DNA from maternal plasma. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and thorough, Prenatal Diagnosis, Second Edition is a valuable resource for any researcher interested in reproducing these techniques in their clinical laboratories.

Noninvasive Prenatal Testing (NIPT)

Noninvasive Prenatal Testing (NIPT) PDF Author: Lieve Page-Christiaens
Publisher: Academic Press
ISBN: 0128141905
Category : Medical
Languages : en
Pages : 408

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Book Description
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

Assessing Genetic Risks

Assessing Genetic Risks PDF Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309047986
Category : Medical
Languages : en
Pages : 353

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Book Description
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.

Before Birth

Before Birth PDF Author: Elizabeth Ettorre
Publisher: Routledge
ISBN: 1351752243
Category : Social Science
Languages : en
Pages : 125

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Book Description
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.

Dictionary of Global Bioethics

Dictionary of Global Bioethics PDF Author: Henk ten Have
Publisher: Springer Nature
ISBN: 3030541614
Category : Philosophy
Languages : en
Pages : 1063

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Book Description
This Dictionary presents a broad range of topics relevant in present-day global bioethics. With more than 500 entries, this dictionary covers organizations working in the field of global bioethics, international documents concerning bioethics, personalities that have played a role in the development of global bioethics, as well as specific topics in the field.The book is not only useful for students and professionals in global health activities, but can also serve as a basic tool that explains relevant ethical notions and terms. The dictionary furthers the ideals of cosmopolitanism: solidarity, equality, respect for difference and concern with what human beings- and specifically patients - have in common, regardless of their backgrounds, hometowns, religions, gender, etc. Global problems such as pandemic diseases, disasters, lack of care and medication, homelessness and displacement call for global responses.This book demonstrates that a moral vision of global health is necessary and it helps to quickly understand the basic ideas of global bioethics.

Dépistage Génétique Et la Vie Privée

Dépistage Génétique Et la Vie Privée PDF Author: Privacy Commissioner of Canada
Publisher: Commissaire à la protection de la vie privée
ISBN:
Category : Civil rights
Languages : en
Pages : 256

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Book Description
This report gives a simplified description of the scientific fundamentals of genetic testing and describes its present applications; establishes broad privacy principles to guide both the public and private sectors on testing matters; examines specifically how the Privacy Act regulates genetic testing by government institutions; and addresses the growing need to consider regulating private sector genetic testing. A summary of positions taken by other countries and international organizations on privacy and genetic testing is also included.

Prenatal Testing and Disability Rights

Prenatal Testing and Disability Rights PDF Author: Erik Parens
Publisher: Georgetown University Press
ISBN: 9781589013940
Category : Medical
Languages : en
Pages : 392

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Book Description
As prenatal tests proliferate, the medical and broader communities perceive that such testing is a logical extension of good prenatal care—it helps parents have healthy babies. But prenatal tests have been criticized by the disability rights community, which contends that advances in science should be directed at improving their lives, not preventing them. Used primarily to decide to abort a fetus that would have been born with mental or physical impairments, prenatal tests arguably reinforce discrimination against and misconceptions about people with disabilities. In these essays, people on both sides of the issue engage in an honest and occasionally painful debate about prenatal testing and selective abortion. The contributors include both people who live with and people who theorize about disabilities, scholars from the social sciences and humanities, medical geneticists, genetic counselors, physicians, and lawyers. Although the essayists don't arrive at a consensus over the disability community's objections to prenatal testing and its consequences, they do offer recommendations for ameliorating some of the problems associated with the practice.

Prenatal Screening and Diagnosis, An Issue of Clinics in Laboratory Medicine

Prenatal Screening and Diagnosis, An Issue of Clinics in Laboratory Medicine PDF Author: Anthony O. Odibo
Publisher: Elsevier Health Sciences
ISBN: 1455700398
Category : Medical
Languages : en
Pages : 270

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Book Description
This issue of Clinics in Laboratory Medicine, Guest Edited by Anthony Odibo and David Krantz, will feature article topics such as: Screening for Chromosomal abnormalities; Cystic fibrosis screening; The role of second-trimester screening, in the post-first trimester screening era; Modifying risk for Aneuploidy with second-trimester ultrasound after a positive serum screen; Cost-effectiveness of Down syndrome screening paradigms; Biochemical and biophysical screening for the risk of Preterm delivery; Pre-implantation genetic diagnosis; Prenatal testing for infectious disease, Thrombophilias, Preeclampsia, Neural Tube Defects; Management of Multiple Pregnancy; Genetic Counseling Issues in Down syndrome Screening; First Trimester Ultrasound Markers; Quality Control of Nuchal Translucency; Clinical Implications of First Trimester Screening; Adverse Pregnancy Outcomes after Positive Screening; First Trimester Combined Screening: Instant Risks Approach.

Pregnancy After Assisted Reproductive Technology

Pregnancy After Assisted Reproductive Technology PDF Author: Eric Jauniaux
Publisher: Cambridge University Press
ISBN: 1107006473
Category : Health & Fitness
Languages : en
Pages : 211

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Book Description
Practical, evidence-based guide to managing ART pregnancies, based on 30 years of clinical experience, including gynaecological, genetic and obstetric complications.

Genetic Disorders and the Fetus

Genetic Disorders and the Fetus PDF Author: Aubrey Milunsky
Publisher: Springer Science & Business Media
ISBN: 1468434381
Category : Medical
Languages : en
Pages : 718

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Book Description
Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.