Prenatal Screening And Diagnosis

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Noninvasive Prenatal Testing (NIPT)

Author : Lieve Page-Christiaens
Publisher : Academic Press
ISBN 13 : 0128141905
Total Pages : 408 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Noninvasive Prenatal Testing (NIPT) by : Lieve Page-Christiaens

Download or read book Noninvasive Prenatal Testing (NIPT) written by Lieve Page-Christiaens and published by Academic Press. This book was released on 2018-08-19 with total page 408 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Author : Brynn Levy
Publisher : Humana
ISBN 13 : 9781493988877
Total Pages : 0 pages
Book Rating : 4.9/5 (888 download)

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Book Synopsis Prenatal Diagnosis by : Brynn Levy

Download or read book Prenatal Diagnosis written by Brynn Levy and published by Humana. This book was released on 2018-12-01 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Screening for Down's Syndrome

Author : J. G. Grudzinskas
Publisher : Cambridge University Press
ISBN 13 : 9780521452717
Total Pages : 364 pages
Book Rating : 4.4/5 (527 download)

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Book Synopsis Screening for Down's Syndrome by : J. G. Grudzinskas

Download or read book Screening for Down's Syndrome written by J. G. Grudzinskas and published by Cambridge University Press. This book was released on 1994-11-17 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Assessing Genetic Risks

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Assessing Genetic Risks by : Institute of Medicine

Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Prenatal Testing and Disability Rights

Author : Erik Parens
Publisher : Georgetown University Press
ISBN 13 : 9781589013940
Total Pages : 392 pages
Book Rating : 4.0/5 (139 download)

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Book Synopsis Prenatal Testing and Disability Rights by : Erik Parens

Download or read book Prenatal Testing and Disability Rights written by Erik Parens and published by Georgetown University Press. This book was released on 2000-09-28 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Protocols for High-risk Pregnancies

Author : John T. Queenan
Publisher :
ISBN 13 :
Total Pages : 344 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Protocols for High-risk Pregnancies by : John T. Queenan

Download or read book Protocols for High-risk Pregnancies written by John T. Queenan and published by . This book was released on 1982 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Genetic Disorders and the Fetus

Author : Aubrey Milunsky
Publisher : Springer Science & Business Media
ISBN 13 : 1468451553
Total Pages : 910 pages
Book Rating : 4.4/5 (684 download)

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Book Synopsis Genetic Disorders and the Fetus by : Aubrey Milunsky

Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 910 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Fetal Therapy

Author : Mark D. Kilby
Publisher : Cambridge University Press
ISBN 13 : 1108597645
Total Pages : 623 pages
Book Rating : 4.1/5 (85 download)

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Book Synopsis Fetal Therapy by : Mark D. Kilby

Download or read book Fetal Therapy written by Mark D. Kilby and published by Cambridge University Press. This book was released on 2020-01-02 with total page 623 pages. Available in PDF, EPUB and Kindle. Book excerpt: Updated by a team of internationally renowned experts, this book gives a thorough overview of fetal pathophysiology and an evidence base for in utero: both medical (non-invasive) and surgical treatments. Many topics are expanded to cover recent advances, including: stem cell transplantation; tissue scaffolding; minimally invasive approaches to 'open fetal surgery'; the etiology, prevention and treatment of preterm birth and PROM; the genetic etiologies of fetal disease; and gene therapy. In addition, there are in-depth discussions as to the role of open fetal myelomeningocele repair and several fetoscopic approaches to therapy. The international editors have added important new chapters on reducing stillbirth and prenatal counselling. This book is an invaluable reference guide to the latest fetal therapy options, and an essential, in-depth study book for maternal-fetal and neonatology specialists.

Obstetrics Essentials

Author : Kate C. Arnold
Publisher : Springer
ISBN 13 : 3319576755
Total Pages : 555 pages
Book Rating : 4.3/5 (195 download)

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Book Synopsis Obstetrics Essentials by : Kate C. Arnold

Download or read book Obstetrics Essentials written by Kate C. Arnold and published by Springer. This book was released on 2017-09-13 with total page 555 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a compact question-based review of the most critical topics an obstetrician will come across in practice. Each chapter includes 10-30 multiple-choice questions designed to test the readers understanding surrounding one obstetric topic. Based on all 45 obstetric based practice bulletins by ACOG, this text is designed to keep practitioners up-to-date with the latest evidence based medicine. Sample topics include: anemia in pregnancy, screening for fetal chromosomal abnormalities, and vaginal birth after previous cesarean delivery. This is an ideal tool for attendings and clerkship directors who frequently test residents and medical students during rounds and in the classroom. This review also proves useful for practicing physicians and physicians-in-training who want to self-evaluate their comprehension and study for board examinations.

Ethical Dilemmas in Prenatal Diagnosis

Author : Tamara Fischmann
Publisher : Springer Science & Business Media
ISBN 13 : 9400713967
Total Pages : 207 pages
Book Rating : 4.4/5 (7 download)

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Book Synopsis Ethical Dilemmas in Prenatal Diagnosis by : Tamara Fischmann

Download or read book Ethical Dilemmas in Prenatal Diagnosis written by Tamara Fischmann and published by Springer Science & Business Media. This book was released on 2011-05-27 with total page 207 pages. Available in PDF, EPUB and Kindle. Book excerpt: Technological developments in the life sciences confront us with new facets of a Faustian seduction. Are we „playing God“ more and more, as claimed by critical authors of modernity? Achievements in genetic research produce ethical dilemmas which need to be the subject of reflection and debate in modern societies. Denial of ambivalences that ethical dilemmas arouse constitutes a threat to societies as well as to individuals. The book presents a compilation of some of the results of the interdisciplinary European study “Ethical Dilemmas Due to Prenatal and Genetic Diagnostics” (EDIG), which investigated some of these dilemmas in detail in a field which is particularly challenging: prenatal diagnosis. When results from prenatal diagnosis show fetal abnormalities, women and their partners are confronted with ethical dilemmas regarding: the right to know and the right not to know; decision-making about the remainder of the pregnancy and the desire for a healthy child; responsibility for the unborn child, for its well-being and possible suffering; life and death. This book provides answers from an ethical, psychoanalytical and medical viewpoint.

Tangled Diagnoses

Author : Ilana Löwy
Publisher : University of Chicago Press
ISBN 13 : 022653426X
Total Pages : 326 pages
Book Rating : 4.2/5 (265 download)

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Book Synopsis Tangled Diagnoses by : Ilana Löwy

Download or read book Tangled Diagnoses written by Ilana Löwy and published by University of Chicago Press. This book was released on 2018-04-19 with total page 326 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since the late nineteenth century, medicine has sought to foster the birth of healthy children by attending to the bodies of pregnant women, through what we have come to call prenatal care. Women, and not their unborn children, were the initial focus of that medical attention, but prenatal diagnosis in its present form, which couples scrutiny of the fetus with the option to terminate pregnancy, came into being in the early 1970s. Tangled Diagnoses examines the multiple consequences of the widespread diffusion of this medical innovation. Prenatal testing, Ilana Löwy argues, has become mainly a risk-management technology—the goal of which is to prevent inborn impairments, ideally through the development of efficient therapies but in practice mainly through the prevention of the birth of children with such impairments. Using scholarship, interviews, and direct observation in France and Brazil of two groups of professionals who play an especially important role in the production of knowledge about fetal development—fetopathologists and clinical geneticists—to expose the real-life dilemmas prenatal testing creates, this book will be of interest to anyone concerned with the sociopolitical conditions of biomedical innovation, the politics of women’s bodies, disability, and the ethics of modern medicine.

Dewhurst's Textbook of Obstetrics and Gynaecology

Author : Keith Edmonds
Publisher : John Wiley & Sons
ISBN 13 : 0470753331
Total Pages : 750 pages
Book Rating : 4.4/5 (77 download)

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Book Synopsis Dewhurst's Textbook of Obstetrics and Gynaecology by : Keith Edmonds

Download or read book Dewhurst's Textbook of Obstetrics and Gynaecology written by Keith Edmonds and published by John Wiley & Sons. This book was released on 2008-04-15 with total page 750 pages. Available in PDF, EPUB and Kindle. Book excerpt: This time honoured classic has been re-built completely: after sixeditions the editor has decided that a radical revision isnecessary. The new edition has been developed as a result ofintensive consultation with trainees in OB/GYN as to what theywant, what they need and how they learn. The book is organised into two halves covering obstetrics andgynaecology. Within each, the chapters are structured into sectionscontaining pedagogic features such as boxes, highlights and keypoints for the first time. It contains everything the clinicianneeds to practice the art of obstetrics and gynaecology andsufficient information to help sub-specialists develop theirspecific interests. This text is recommended reading for the RoyalCollege of Obstetrics and Gynaecology membership examination. This seventh edition contains 21 new chapters: Anatomy of the Pelvis and Reproductive Tract Placenta and Fetal Membranes Antenatal Care Anaesthesia and Analgesia Recurrent Miscarriage Ectopic Pregnancy Trophoblastic Disease Genetics and Prenatal Diagnosis Drugs and Pregnancy Obstetric Emergencies Prolonged Pregnancy Renal Disease Termination of Pregnancy Imaging in Gynaecology PMS Assisted Reproduction Hysteroscopy and Laparoscopy Sexual Dysfunction Psychological Aspects of Pregnancy Domestic Violence and Sexual Assault - now on MRCOG curriculum Ethical Dilemmas This seventh edition has been significantly updated with a widerange of internationally renowned contributors who are all expertsin their field, bringing this book to the cutting edge of knowledgein obstetrics and gynaecology. "It was my favourite textbook when I was working for myexaminations and I am still using it. I can recommend this editionto current trainees wholeheartedly. It is certainly worth buying."Journal of Obstetrics and Gynaecology

Fetology: Diagnosis and Management of the Fetal Patient, Second Edition

Author : Diana Bianchi
Publisher : McGraw Hill Professional
ISBN 13 : 0071760873
Total Pages : 1056 pages
Book Rating : 4.0/5 (717 download)

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Book Synopsis Fetology: Diagnosis and Management of the Fetal Patient, Second Edition by : Diana Bianchi

Download or read book Fetology: Diagnosis and Management of the Fetal Patient, Second Edition written by Diana Bianchi and published by McGraw Hill Professional. This book was released on 2010-05-14 with total page 1056 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first book to synthesize relevant, critically reviewed data for application to the diagnosis and treatment of prenatal patients— updated and in full color A Doody's Core Title for 2011! 5 STAR DOODY'S REVIEW! "The book is comprehensive, concise, well illustrated, and an extremely valuable resource for perinatal healthcare providers....This book has rapidly become a go-to reference in the perinatal field and this new edition confirms its place as the gold standard in the field. Perinatologists will find this to be an essential part of their library. As more obstetric practitioners do investigative sonographic procedures in their offices, this book will be a valuable resource for them as well. The new edition is overdue and most welcome."--Doody's Review Service "This invaluable up-to-date reference is a must have guide especially in non-tertiary care centers where the various experts may not be readily available to further guide the family and plan the rest of the antepartum, peripartum and postpartum care."--Center for Advanced Fetal Care Newsletter Fetology: Diagnosis and Management of the Fetal Patient offers a cross-disciplinary approach that goes beyond the traditional boundaries of obstetrics, pediatrics, and surgery to help you effectively diagnose and treat fetal patients. Fetology considers the full implications of a fetal sonographic or chromosomal diagnosis—from prenatal management to long-term outcome—for an affected child. Here, you’ll find all the insights you need to answer the questions of parents faced with a diagnosis of a fetal abnormality—and present them with a coordinated therapeutic plan. Features NEW! Full-color design NEW! Five new chapters on Adrenal Masses, Abdominal Cysts, Overgrowth, Mosaic Trisomy, and DiGeorge Syndrome NEW! Chapters summarizing contemporary approaches to first and second trimester screening for aneuploidy NEW! 3D ultrasound and MRI images: over 450 images clearly illustrate the diagnosis of anomalies with the latest, most precise imaging technology NEW! Key Points open each chapter, providing rapid review of a particular condition Highlighted treatment/management guidelines deliver quick access to practical, what-to-do information Each chapter, which covers a single anomaly, includes description of the medical condition, incidence, characteristic sonographic findings, differential diagnosis, best treatment during pregnancy, treatment of the newborn, expected outcome, and more Addresses gaps in our knowledge that highlight unmet clinical needs and areas for future research

Dépistage Génétique Et la Vie Privée

Author : Privacy Commissioner of Canada
Publisher : Commissaire à la protection de la vie privée
ISBN 13 :
Total Pages : 256 pages
Book Rating : 4.:/5 (31 download)

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Book Synopsis Dépistage Génétique Et la Vie Privée by : Privacy Commissioner of Canada

Download or read book Dépistage Génétique Et la Vie Privée written by Privacy Commissioner of Canada and published by Commissaire à la protection de la vie privée. This book was released on 1992 with total page 256 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Before Birth

Author : Elizabeth Ettorre
Publisher : Routledge
ISBN 13 : 1351752243
Total Pages : 125 pages
Book Rating : 4.3/5 (517 download)

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Book Synopsis Before Birth by : Elizabeth Ettorre

Download or read book Before Birth written by Elizabeth Ettorre and published by Routledge. This book was released on 2017-10-23 with total page 125 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Handbook of Fetal Medicine

Author : Sailesh Kumar
Publisher : Cambridge University Press
ISBN 13 : 1139488813
Total Pages : pages
Book Rating : 4.1/5 (394 download)

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Book Synopsis Handbook of Fetal Medicine by : Sailesh Kumar

Download or read book Handbook of Fetal Medicine written by Sailesh Kumar and published by Cambridge University Press. This book was released on 2010-07-01 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Pregnancy After Assisted Reproductive Technology

Author : Eric Jauniaux
Publisher : Cambridge University Press
ISBN 13 : 1139560492
Total Pages : 211 pages
Book Rating : 4.1/5 (395 download)

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Book Synopsis Pregnancy After Assisted Reproductive Technology by : Eric Jauniaux

Download or read book Pregnancy After Assisted Reproductive Technology written by Eric Jauniaux and published by Cambridge University Press. This book was released on 2012-09-06 with total page 211 pages. Available in PDF, EPUB and Kindle. Book excerpt: It is estimated that more than 4.5 million couples experience infertility each year, and more than 4 million babies have been born using IVF since 1978. However, assisted reproductive technologies continue to raise many medical, social, ethical, political and religious questions, often leading to controversial and sometimes inaccurate opinions about the outcomes of pregnancies resulting from these techniques. This is the first book dedicated to pregnancies arising from assisted reproductive technologies (ART). Chapters cover the most important management issues, from early pregnancy to outcome of children resulting from ART, including gynaecological, genetic and obstetric complications. Each chapter is written and edited by leading experts in the field of human reproduction. A timely, practical and evidence-based guide to the management of ART pregnancies, based on 30 years of clinical experience, this is essential reading for reproductive and maternal-fetal specialists as well as general obstetricians and gynaecologists.