June 14, 2021

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Prenatal Diagnosis

Prenatal Diagnosis
Author : Miriam S. DiMaio,Joyce E. Fox,Maurice J. Mahoney
Publisher : John Wiley & Sons
Release Date : 2011-04-06
Category : Medical
Total pages :136
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How can prenatal testing help your patients? In utero diagnosis has undergone an amazing revolution in recent years. More tests are available; the indications for prenatal diagnosis have expanded - you can now advise your patients about disorders you could not have previously detected. Medical training for obstetricians, medical geneticists, and genetic counselors has not kept pace with these developments. Clinical exposure to common and unusual problems in prenatal diagnosis is limited. Prenatal Diagnosis: Clinical Cases and Challenges, based on the authors’ several decades of experiences, fills this gap. Real cases portray diagnostic problems as a route to the underlying biology, the available testing options, and the results that might be obtained. The authors discuss the challenges of management, interpretation, and counseling. Cases used throughout emphasize three types of clinical problems: Chromosomal abnormalities Mendelian disorders Fetal structural abnormalities The decision to enter the world of prenatal diagnosis should be very carefully considered by any prospective mother. Prenatal Diagnosis: Clinical Cases and Challenges will help you discuss the issues in an informed manner with your patients.

Prenatal Diagnosis

Prenatal Diagnosis
Author : Lenore Abramsky,Jean Chapple
Publisher : Springer
Release Date : 2013-11-11
Category : Medical
Total pages :228
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This book evolved out of a conference which was held because of our conviction that prenatal screening and diagnostic techniques provide carers with a two-edged sword which can do both good and harm - often at the same time to the same person. The conference ('The Human Side of Prenatal Diagnosis') dealt with emotional, ethical and legal issues in prenatal screening and diagnosis. It took place in March 1992 at the Institute of Obstetrics and Gynaecology in London and was attended by obstetricians, paediatricians, geneticists, midwives and ultrasonographers from the North West Thames Health Region. The demand for places at the conference far exceeded the number of places avail able and many people who attended expressed the hope that we would be organizing similar conferences in the future. This confirmed our belief that we were not the only ones preoccupied with the human issues raised by the new technologies and encouraged us to work towards this publication. Prenatal diagnosis and the possibility of selective termination of affected pregnancies is part of a wider move towards repro ductive choice. Like contraception and assisted conception, it can make a major difference to the lives of some people. In our culture, we tend to view choice as a good thing. We look upon it as our right to choose our occupation, our partner, the place where we live, the books that we read and the way that we vote.

Prenatal Diagnosis

Prenatal Diagnosis
Author : Mark I. Evans,Evans Mark,Mark Paul Johnson,Yuval Yaron
Publisher : McGraw-Hill
Release Date : 2006
Category : Medical
Total pages :767
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Noninvasive Prenatal Testing (NIPT)

Noninvasive Prenatal Testing (NIPT)
Author : Lieve Page-Christiaens,Hanns-Georg Klein
Publisher : Academic Press
Release Date : 2018-08-19
Category : Medical
Total pages :405
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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

Ultrasound Guided Invasive Prenatal Diagnostic Techniques Simplified

Ultrasound Guided Invasive Prenatal Diagnostic Techniques Simplified
Author : Raju R Sahetya
Publisher : JP Medical Ltd
Release Date : 2017-12-31
Category : Medical
Total pages :98
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This book is a concise guide to ultrasound guided invasive prenatal diagnostic techniques for clinicians. Beginning with discussion on the evolution of prenatal diagnosis, the next chapters cover historical aspects of invasive prenatal diagnosis, patient counselling prior to invasive procedures, and ethical and legal issues. The following sections explain the principles of ultrasound guided invasive prenatal diagnosis, procedural prerequisites, and then details individual techniques to test for foetal abnormalities including amniocentesis (taking a sample of amniotic fluid), chorionic villous sampling (taking a sample of cells from the tissue of the placenta), cordocentesis (taking a sample of the umbilical cord), and embryoscopy (insertion of an embryoscope through the mother’s abdominal wall and uterus for direct examination of an embryo). The book concludes with a final chapter on prenatal diagnosis techniques in multiple pregnancy, followed by suggestions for further reading. Key points Guide to ultrasound guided invasive prenatal diagnostic techniques Explains general aspects including pre-procedure patient counselling and ethical and legal issues Detailed discussion on different techniques to test for foetal abnormalities Text enhanced by more than 70 clinical photographs and diagrams

Ethical Dilemmas in Prenatal Diagnosis

Ethical Dilemmas in Prenatal Diagnosis
Author : Tamara Fischmann,Elisabeth Hildt
Publisher : Springer Science & Business Media
Release Date : 2011-05-27
Category : Medical
Total pages :207
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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.

Prenatal Diagnosis

Prenatal Diagnosis
Author : Sinuhe Hahn,Laird G. Jackson
Publisher : Humana Press
Release Date : 2010-11-19
Category : Medical
Total pages :331
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In this thorough and state-of-the-art book, top experts provide cutting edge techniques which greatly expand the depth and scope of classical invasive prenatal diagnosis. The book features a totally unique focus on novel non-invasive approaches for prenatal diagnosis. Following the Methods in Molecular BiologyTM series format, the chapters feature step-by-step laboratory protocols, lists of the necessary materials, and tips on troubleshooting and avoiding known pitfalls.

Women and Prenatal Testing

Women and Prenatal Testing
Author : Karen H. Rothenberg
Publisher : Ohio State University Press
Release Date : 1994-01-01
Category : Prenatal diagnosis
Total pages :304
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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

Before Birth

Before Birth
Author : Elena O. Nightingale,Melissa Goodman
Publisher : Harvard University Press
Release Date : 1990
Category : Medical
Total pages :111
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Provides information on prenatal tests, including how they are performed, what they reveal, and what their limitations are

Handbook of Prenatal Diagnosis

Handbook of Prenatal Diagnosis
Author : Ronald J. Trent
Publisher : Cambridge University Press
Release Date : 1995-09-29
Category : History
Total pages :288
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This book provides an outline of current science and practice in the area of prenatal diagnosis, explaining the techniques available, their indications, clinical use, and complications. Tables and illustrations clarify the principles and demonstrate the findings for each method of prenatal diagnosis. The volume also covers the diagnosis of infectious disease in the fetus and neonate and laboratory screening tests for the newborn (in an Appendix). The authors discuss educational, counseling and ethical issues and include a chapter devoted to the needs of parents and families as consumers of these expanding services. This volume will serve as an important practical resource for all the health professionals now involved in prenatal diagnosis.

Genetic Steroid Disorders

Genetic Steroid Disorders
Author : Denesy Mancenido,Maria I. New
Publisher : Elsevier Inc. Chapters
Release Date : 2013-08-22
Category : Medical
Total pages :406
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Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21OHD) is a disorder of adrenal steroidogenesis, which causes virilization of external genitalia in females affected with the severe form of the disease. However, genital ambiguity is preventable with prenatal treatment with dexamethasone during the first trimester. While prenatal treatment has remained largely unchanged since its institution, prenatal diagnosis of CAH has witnessed a number of advancements in the past 50 years. The first successful prenatal diagnosis utilized hormonal measurements of the amniotic fluid. Elevated levels of 17α-hydroxyprogesterone in the amniotic fluid became diagnostic for a fetus affected with the severe form of the disorder. This finding was followed by the discovery of the close linkage between the disease and the HLA complex, which led to HLA linkage studies as a second approach for prenatal diagnosis. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the third method for prenatal diagnosis. Using polymerase chain reaction (PCR)-based methods to amplify the CYP21A2 active gene, and not the CYP21A1P pseudogene, diagnostic procedures increased in specificity and led to accurate prenatal diagnosis in the first trimester. The advent of non-invasive prenatal diagnosis heralds a new development for prenatal diagnosis of CAH, with the potential for improved safety, earlier detection, and increased accessibility.

Fetal Medicine

Fetal Medicine
Author : André Boué
Publisher : Oxford University Press, USA
Release Date : 1995
Category : Medical
Total pages :292
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This new book will enable GP's, obstetricians and paediatricians to answer the concerns of the families in their care. It is the first book to make information on this important topic so easily accessible to clinicians. The book is firmly rooted in clinical practice and based on many years ofexperience, much of it involving the development and implementation of new techniques for examining the fetus in utero. The techniques now available are assessed and better ways to identify pregnancies which are eligible to their application are proposed. Throughout the book, the special status ofthe fetus as a patient is emphasized and the concerns and questions of families are considered, making this the first fully comprehensive and authoritative volume on fetal medicine.

Imperfect Pregnancies

Imperfect Pregnancies
Author : Ilana Löwy
Publisher : JHU Press
Release Date : 2017-12-01
Category : Medical
Total pages :296
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This book will interest students, scholars, health professionals, administrators, and activists interested in issues surrounding new medical technologies, screening, risk management, pregnancy, disability, and the history and social politics of women’s bodies.

3D Ultrasound in Prenatal Diagnosis

3D Ultrasound in Prenatal Diagnosis
Author : Rabih Chaoui,Kai-Sven Heling
Publisher : Walter de Gruyter GmbH & Co KG
Release Date : 2016-09-12
Category : Medical
Total pages :301
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In the last decade there was a widespread use of 3D ultrasound in obstetrical imaging. It is estimated that more than half of the obstetrical clinics are currently using ultrasound equipment with 3D capabilities. Initially known for its beautiful images of the faces of babies, 3D ultrasound has, however, become an important tool in prenatal diagnosis for its ability to image fetal organs in normal and abnormal conditions. This book is a state-of-the-art work conceived as a practical guide to the application of 3D ultrasound in obstetrics. The book is illustrated with images reflecting the clinical utility of 3D ultrasound in prenatal diagnosis. The book has three sections: one section on the technical principles of 3D ultrasound, a second section on various 3D rendering tools with a step-by-step explanation of its use. The third section is dedicated to the clinical use of 3D in the examination of the fetal organs. The authors of this book have extensive expertise in 3D ultrasound that spans for more than 15 years.

Prenatal Diagnosis

Prenatal Diagnosis
Author : Canada. Royal Commission on New Reproductive Technologies
Publisher : Canadian Government Publishing
Release Date : 1993
Category : Fetus
Total pages :542
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"The practice of prenatal diagnosis involves a complex relationship between technology and individuals, partly because of the seriousness of the choices that may have to be made because of the technology's use. This relationship provides the context for the studies in the next three volumes examining prenatal diagnostic technologies. This volume outlines the development of prenatal diagnosis in Canada and what is known about its risks and long-term effects. It goes on to provide some data relevant to the demographics of women in Canada using prenatal diagnosis and then explores in depth the views of some of these women."--Introduction.