Prenatal Genetic Counseling

Prenatal Genetic Counseling PDF

Author: Sam Riedijk

Publisher: Academic Press

Published: 2021-10-20

Total Pages: 228

ISBN-13: 0128233311

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Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty provides a foundation for new research and a one-stop source for physicians, genetic counselors, psychologists, social workers, general practitioners, grief workers, translational researchers, and administrators seeking to work in the field of clinical genomics ethically and in full consideration of patients’ psychological well-being. Here, an international team of experienced counselors and clinician-scientists lay out the range of methods and technologies applied in prenatal decision-making, including NIPT; invasive testing with microarray analysis or whole genome sequencing; ultrasound screening; and prenatal diagnosis for known hereditary conditions, among others. From here, they examine specific challenges in the clinical translation. In a field where decisions about life or death of a child are made, professionals are bound to encounter uncertainty. This book was co-created by health care practitioners, scientists, patients and students to provide insights and direction for offering support straight from the heart to couples faced with fetal anomalies. To make this possible for all couples, diversity in prenatal genetic counseling is also addressed. Finally, next steps in prenatal genetic counseling research and clinical implementation are discussed. As we are challenged by the rapid advances in prenatal genomics, so are our patients. Learning from our patients with every encounter, this book aims to offer access to the insights we gathered as well as to stimulate lifelong learning. Features a range of international chapter authors addressing prenatal medicine from bench-to-bedside, including health care practitioners, scientists, patients and students Covers use and psychological implications of technologies applied in prenatal decision-making, including NIPT, invasive testing with microarray analysis; exome sequencing; whole genome sequencing; and ultrasound screening and addresses diversity in prenatal genetic counseling Discusses next steps for prenatal genetic counseling research and common challenges in the clinic, with detailed case descriptions offering insights from the authors’ counseling experiences

Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling PDF

Author: Amber Mathiesen

Publisher: Oxford University Press

Published: 2018

Total Pages: 289

ISBN-13: 0190681098

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Foundations of Perinatal Genetic Counseling is a practical introduction to the concepts and skills in genetic counseling with clients before and during pregnancy. Authored by genetic counselors at the forefront of contemporary perinatal practice, this all-in-one reference provides an accessible yet comprehensive overview of: the basics of pregnancy, including assisted reproductive technologies and high-risk pregnancy management; preimplantation and prenatal genetic screening and diagnosis; the structure and goals of a genetic counseling appointment; common clinical scenarios and best-practice approaches. Distilling the most pertinent information for new learners and practicing counselors, Foundations of Perinatal Genetic Counseling is an essential companion for both classroom and clinic. Perinatal genetic counselors will find themselves returning to this unique resource long after their training has come to an end. Contents: Pregnancy basics -- The perinatal genetic counseling appointment and family history -- Prenatal screening -- Prenatal diagnosis -- Common indications -- Pregnancy management -- Assisted reproductive technology and reproductive options for the at risk couple -- Common perinatal genetic counseling situations.

Prenatal Testing and Disability Rights

Prenatal Testing and Disability Rights PDF

Author: Erik Parens

Publisher: Georgetown University Press

Published: 2000-09-28

Total Pages: 392

ISBN-13: 9781589013940

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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.

Assessing Genetic Risks

Assessing Genetic Risks PDF

Author: Institute of Medicine

Publisher: National Academies Press

Published: 1994-01-01

Total Pages: 353

ISBN-13: 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.

Foundations of Perinatal Genetic Counseling, 2nd Edition

Foundations of Perinatal Genetic Counseling, 2nd Edition PDF

Author: Kali Bogaard Roy

Publisher: Oxford University Press

Published: 2024-07-19

Total Pages: 393

ISBN-13: 0197677177

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Foundations of Perinatal Genetic Counseling is the first book to provide a practical introduction to the concepts and skills needed to practice genetic counseling with clients before and during pregnancy. In this new edition, the authors provide a revised and updated overview of these concepts including pregnancy basics, information of the perinatal genetic counseling session and family history, testing options and procedures (e.g., diagnostic testing, screening, carrier screening, assisted reproductive technology), common indications, pregnancy management, common counseling situations, and suggested learning activities. With newly expanded material, updated guidelines, and discussions on technological and procedural advancements in the field, Foundations of Perinatal Genetic Counseling: Second Edition is an essential companion for both the classroom and the clinic. Authored by genetic counselors at the forefront of contemporary perinatal practice, this all-in-one reference provides an accessible yet comprehensive overview of the most pertinent information for new learners and practicing counselors. Perinatal genetic counselors will find themselves returning to this unique resource long after their training has come to an end.

Women and Prenatal Testing

Women and Prenatal Testing PDF

Author: Karen H. Rothenberg

Publisher: Ohio State University Press

Published: 1994

Total Pages: 332

ISBN-13: 0814206409

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"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

The Obstetric Hematology Manual

The Obstetric Hematology Manual PDF

Author: Sue Pavord

Publisher: Cambridge University Press

Published: 2018-02-08

Total Pages: 362

ISBN-13: 1108548377

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Understand the rapidly growing complexities of obstetric hematology and high-risk pregnancy management, with experts in the field. Now in its second edition, this comprehensive and essential guide focuses on providing the best support for patients and clinical staff, to prevent serious complications in pregnancy and the post-partum period for both mother and baby. Wide-ranging and detailed, the guide offers discussions on basic principles of best care, through to tackling lesser-known hematological conditions, such as cytopenias and hemoglobinopathies. Updated with color illustrations, cutting-edge research, accurate blood film reproductions, and practical case studies, the revised edition places invaluable advice into everyday context. This unique resource is essential reading for trainees and practitioners in obstetrics, anesthesia, and hematology, as well as midwives, nurses, and laboratory staff. Clarifying difficult procedures for disease prevention, the guide ensures safety when the stakes are high. Reflecting current evidence-based guidelines, the updated volume is key to improving pregnancy outcomes worldwide.

Genetic Disorders and the Fetus

Genetic Disorders and the Fetus PDF

Author: Aubrey Milunsky

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 910

ISBN-13: 1468451553

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About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.

Noninvasive Prenatal Testing (NIPT)

Noninvasive Prenatal Testing (NIPT) PDF

Author: Lieve Page-Christiaens

Publisher: Academic Press

Published: 2018-08-19

Total Pages: 408

ISBN-13: 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

Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling PDF

Author: Amber Mathiesen

Publisher:

Published: 2018

Total Pages:

ISBN-13: 9780190681111

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An essential new text for genetic counseling's most sought-after skills. Foundations of Perinatal Genetic Counseling is a practical introduction to the concepts and skills in genetic counseling with clients before and during pregnancy. Authored by genetic counselors at the forefront of contemporary perinatal practice, this all-in-one reference provides an accessible yet comprehensive overview of:· the basics of pregnancy, including assisted reproductive technologies and high-risk pregnancy management· preimplantation and prenatal genetic screening and diagnosis· the structure and goals of a gene.