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Noninvasive Prenatal Testing (NIPT)

Noninvasive Prenatal Testing (NIPT)
Author: Lieve Page-Christiaens
Publisher: Academic Press
Total Pages: 408
Release: 2018-08-19
Genre: Medical
ISBN: 0128141905

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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


Prenatal Diagnosis

Prenatal Diagnosis
Author: Brynn Levy
Publisher: Humana
Total Pages: 0
Release: 2018-12-01
Genre: Science
ISBN: 9781493988877

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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.


The Routledge Handbook of Anthropology and Reproduction

The Routledge Handbook of Anthropology and Reproduction
Author: Sallie Han
Publisher: Routledge
Total Pages: 631
Release: 2021-11-09
Genre: Social Science
ISBN: 100045598X

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The Routledge Handbook of Anthropology and Reproduction is a comprehensive overview of the topics, approaches, and trajectories in the anthropological study of human reproduction. The book brings together work from across the discipline of anthropology, with contributions by established and emerging scholars in archaeological, biological, linguistic, and sociocultural anthropology. Across these areas of research, consideration is given to the contexts, conditions, and contingencies that mark and shape the experiences of reproduction as always gendered, classed, and racialized. Over 39 chapters, a diverse range of international scholars cover topics including: Reproductive governance, stratification, justice, and freedom. Fertility and infertility. Technologies and imaginations. Queering reproduction. Pregnancy, childbirth, and reproductive loss. Postpartum and infant care. Care, kinship, and alloparenting. This is a valuable reference for scholars and upper-level students in anthropology and related disciplines associated with reproduction, including sociology, gender studies, science and technology studies, human development and family studies, global health, public health, medicine, medical humanities, and midwifery and nursing.


Assessing Genetic Risks

Assessing Genetic Risks
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 353
Release: 1994-01-01
Genre: Medical
ISBN: 0309047986

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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.


Handbook of Fetal Medicine

Handbook of Fetal Medicine
Author: Sailesh Kumar
Publisher: Cambridge University Press
Total Pages:
Release: 2010-07-01
Genre: Medical
ISBN: 1139488813

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Handbook of Fetal Medicine provides a concise and practical guide to the modern management of normal pregnancy and the at-risk fetus. Comprehensive in scope, in an easy-to-use format, the book provides guidance on a wide range of conditions, best practice management strategies and treatment options in maternal-fetal medicine. Each system-based chapter has a brief introduction on embryology and discusses the key genetic developments and relevant developmental abnormalities. The book begins by addressing genetic disorders such as Down syndrome, and goes on to consider skeletal and bodily system abnormalities. All key management points are highlighted and data on long-term outcomes are provided. This book will appeal to maternal-fetal medicine specialists, subspecialty trainees, obstetricians and midwives as a useful practical reference tool in daily practice. It is particularly suitable for trainees in Obstetrics & Gynaecology preparing for the post graduate examinations.


Before Birth

Before Birth
Author: Elizabeth Ettorre
Publisher: Routledge
Total Pages: 125
Release: 2017-10-23
Genre: Social Science
ISBN: 1351752243

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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.


Dépistage Génétique Et la Vie Privée

Dépistage Génétique Et la Vie Privée
Author: Privacy Commissioner of Canada
Publisher: Commissaire à la protection de la vie privée
Total Pages: 256
Release: 1992
Genre: Civil rights
ISBN:

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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.


Screening for Down's Syndrome

Screening for Down's Syndrome
Author: J. G. Grudzinskas
Publisher: Cambridge University Press
Total Pages: 364
Release: 1994-11-17
Genre: Medical
ISBN: 9780521452717

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This important new publication summarises the recent exciting advances in screening for Down's syndrome. It addresses important clinical questions such as: risk assessment, who to screen, when to screen, which techniques to use, and the organisation of screening programmes nationally and internationally. An international and authoritative team of authors has been invited to assess the latest developments in this rapidly advancing area. The volume provides a critical and much needed evaluation of the potential and limitations of new and established techniques for screening for Down's syndrome. It will serve as an essential source of information for all those involved in pre-natal diagnosis and the provision of obstetric care.


Down's Syndrome Screening and Reproductive Politics

Down's Syndrome Screening and Reproductive Politics
Author: Gareth M. Thomas
Publisher: Routledge
Total Pages: 251
Release: 2017-03-16
Genre: Health & Fitness
ISBN: 1317338200

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Nominated for the Foundation of Sociology of Health and Illness Book Prize 2018 In the UK and beyond, Down’s syndrome screening has become a universal programme in prenatal care. But why does screening persist, particularly in light of research that highlights pregnant women’s ambivalent and problematic experiences with it? Drawing on an ethnography of Down’s syndrome screening in two UK clinics, Thomas explores how and why we are so invested in this practice and what effects this has on those involved. Informed by theoretical approaches that privilege the mundane and micro practices, discourses, materials, and rituals of everyday life, Down’s Syndrome Screening and Reproductive Politics describes the banal world of the clinic and, in particular, the professionals contained within it who are responsible for delivering this programme. In so doing, it illustrates how Down’s syndrome screening is ‘downgraded’ and subsequently stabilised as a ‘routine’ part of a pregnancy. Further, the book captures how this routinisation is deepened by a systematic, but subtle, framing of Down’s syndrome as a negative pregnancy outcome. By unpacking the complex relationships between professionals, parents, technology, policy, and clinical practice, Thomas identifies how and why screening is successfully routinised and how it is embroiled in both new and familiar debates surrounding pregnancy, ethics, choice, diagnosis, care, disability, and parenthood. The book will appeal to academics, students, and professionals interested in medical sociology, medical anthropology, science and technology studies (STS), bioethics, genetics, and/or disability studies.


Pregnancy After Assisted Reproductive Technology

Pregnancy After Assisted Reproductive Technology
Author: Eric Jauniaux
Publisher: Cambridge University Press
Total Pages: 211
Release: 2012-09-06
Genre: Health & Fitness
ISBN: 1107006473

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