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Prenatal Genetic Counseling in Congenital Anomalies

Prenatal Genetic Counseling in Congenital Anomalies
  • Author : Mihaela Amelia Dobrescu
  • Publisher :Unknown
  • Release Date :2018
  • Total pages :229
  • ISBN : OCLC:1154288894
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Summary : The impact of genetic variability on embryogenesis and fetus development established medical genetics as essential for the prevention of congenital anomalies, early detection and appropriate management. Advances in ultrasonography equipment and technique allow early detection of many congenital malformations. In addition, genetic testing can be performed in a prenatal setting on a variety of biological samples obtained by invasive and noninvasive procedures: chorionic villus sampling, amniocentesis, cordocentesis, or maternal blood collection (id est, cell free fetal DNA). In the past, only a small percentage of congenital anomalies had a readily identifiable etiology; genetic diagnostic procedures can provide at least some of the answers for the remaining unsolved cases. Undoubtedly, the need for appropriate case management and counseling justifies the importance of uncovering the underlying genetic cause of birth defects. In this chapter, we will focus on genetic counseling in congenital anomalies, including isolated congenital anomalies and preimplantation genetic diagnosis. Genetic counseling provides information and support, assisting parents in making informed decisions. Through this process, parents learn about the risk of having a newborn with a congenital malformation and the nature of the disorder and its natural history, are advised on available testing for that particular case, and discuss options for risk management and family planning.

Assessing Genetic Risks

Assessing Genetic Risks
  • Author : Institute of Medicine,Committee on Assessing Genetic Risks
  • Publisher :Unknown
  • Release Date :1994-01-01
  • Total pages :352
  • ISBN : 9780309047982
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Summary : 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 decisionmaking, 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.

Perinatal Genetics

Perinatal Genetics
  • Author : Mary E Norton,Jeffrey A. Kuller,Lorraine Dugoff
  • Publisher :Unknown
  • Release Date :2019-01-23
  • Total pages :350
  • ISBN : 9780323530965
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Summary : Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It’s an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers. Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more. Contains a chapter on fetal treatment of genetic disorders. Consolidates today’s available information and experience in this important area into one convenient resource.

Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling
  • Author : Amber Mathiesen,Kali Roy
  • Publisher :Unknown
  • Release Date :2018-04-30
  • Total pages :224
  • ISBN : 9780190881047
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Summary : 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 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.

Prenatal Genetic Counseling

Prenatal Genetic Counseling
  • Author : Sam Riedijk,Karin E.M. Diderich
  • Publisher :Unknown
  • Release Date :2021-07-15
  • Total pages :312
  • ISBN : 012823329X
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Summary : Over the past two decades, genetic medicine has grown from a new science to an implementable set of clinical methods and technologies whose concrete applications are revolutionizing the health sector and medical practice worldwide. As this technology makes its way into the clinic, translational biomedical researchers, clinicians, and genetic counselors are in need of a key reference that details how to maximize the usefulness of clinical genomic technology while mitigating any harm to patients, families, and communities, taking into account the subtleties of genetic risk assessment, diagnosis, prognosis, family management and parental decision-making. 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, translational researchers, and administrators seeking to implement 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 field where decisions about life or death of a child are made, professionals are bound to encounter their own psychological make-up. Accordingly, this book includes cases the authors found personally challenging, which are in turn analyzed by a psychologist and translated into practical suggestions for an improved counseling experience. Finally, an ending chapter discusses next steps in prenatal genetic counseling research and clinical implementation, noting which counselling practices are currently grounded in scientific underpinnings, and which counseling approaches require further exploration. Features a range of international chapter authors addressing prenatal medicine from bench-to-bedside 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 Discusses next steps for prenatal genetic counseling research and common challenges in clinical implementation, with detailed case studies examining difficult counseling experiences

Congenital Anomalies

Congenital Anomalies
  • Author : Stefania Tudorache
  • Publisher :Unknown
  • Release Date :2018-05-02
  • Total pages :544
  • ISBN : 9781789231144
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Summary : Nowadays, nobody can imagine practicing obstetrics without using obstetrical ultrasound. Working in the prenatal diagnosis field requires dedication, patience, skills, experience, caution, and empathy. The concept of this book was guided by the desire to provide some help to the ultrasound operators. On a daily basis, they are confronted with the challenging task of ruling out or suspecting/confirming the diagnosis of fetal anomalies, either structural or chromosomal. The chapters of this book contain objective and exhaustive updated reviews of the pertinent literature, so that the reader would have a wide reference basis on each subject. Yet, many authors scan the fetus themselves or are directly involved with managing pregnancies with structural malformations or chromosomal anomalies. They kindly shared their personal experience and lessons learned over the years. This book is beneficial for all the professionals working in the prenatal diagnosis.

Genetic Disorders and the Fetus

Genetic Disorders and the Fetus
  • Author : Aubrey Milunsky
  • Publisher :Unknown
  • Release Date :2012-12-06
  • Total pages :704
  • ISBN : 9781468434385
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Summary : 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.

Human Reproductive and Prenatal Genetics

Human Reproductive and Prenatal Genetics
  • Author : Peter C. K. Leung,Jie Qiao
  • Publisher :Unknown
  • Release Date :2018-08-28
  • Total pages :709
  • ISBN : 9780128135716
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Summary : Human Reproductive and Prenatal Genetics presents the latest material from a detailed molecular, cellular and translational perspective. Considering its timeliness and potential international impact, this all-inclusive and authoritative work is ideal for researchers, students, and clinicians worldwide. Currently, there are no comprehensive books covering the field of human reproductive and prenatal genetics. As such, this book aims to be among the largest and most useful references available. Features chapter contributions from leading international scientists and clinicians Provides in-depth coverage of key topics in human reproductive and prenatal genetics, including genetic controls, fertilization and implantation, in vitro culture of the human embryo for the study of post-implantation development, and more Identifies how researchers and clinicians can implement the latest genetic, epigenetic, and –omics based approaches

The Obstetric Hematology Manual

The Obstetric Hematology Manual
  • Author : Sue Pavord,Beverley Hunt
  • Publisher :Unknown
  • Release Date :2018-01-31
  • Total pages :386
  • ISBN : 9781107125605
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Summary : Fully-updated new edition of the essential guide to managing hematological conditions, affecting mother and baby during pregnancy and post-partum.

Understanding Genetics

Understanding Genetics
  • Author : Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services
  • Publisher :Unknown
  • Release Date :2009
  • Total pages :100
  • ISBN : 9780982162217
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Summary : The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.

Prenatal Testing and Disability Rights

Prenatal Testing and Disability Rights
  • Author : Erik Parens,Adrienne Asch
  • Publisher :Unknown
  • Release Date :2000-09-28
  • Total pages :392
  • ISBN : 1589013948
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Summary : 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.

Cancer Genetics

Cancer Genetics
  • Author : Boris Pasche
  • Publisher :Unknown
  • Release Date :2010-06-02
  • Total pages :112
  • ISBN : 1441960333
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Summary : Cancer Genetics is a collection of chapters covering the key recent developments in cancer genetics which have an impact on clinical care. The target audience will be physicians and scientists who need to be apprised on the most recent developments in the field.

Infertility Counseling

Infertility Counseling
  • Author : Sharon N. Covington,Linda Hammer Burns
  • Publisher :Unknown
  • Release Date :2006-10-16
  • Total pages :229
  • ISBN : 9781139458337
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Summary : Infertility Counseling: A Comprehensive Handbook for Clinicians, 2nd edition, is a comprehensive, multidisciplinary textbook for all health professionals providing care for individuals facing reproductive health issues. It is the most thorough and extensive book currently available for clinicians in the field of infertility counseling, providing an exhaustive and comprehensive review of topics. It addresses both the medical and psychological aspects of infertility, reviewing assessment approaches, treatment strategies, counseling for medical conditions impacting fertility, third-party reproduction, alternative family building and post infertility counseling issues. Each chapter follows the same format: introduction, historical overview, literature review, theoretical framework, identification of clinical issues, suggestions for therapeutic interventions, and future implication. This edition also includes extensive appendixes of clinical tools useful to the clinician, including an Internet database of resources and an extensive glossary of terminology.

Noninvasive Prenatal Testing (NIPT)

Noninvasive Prenatal Testing (NIPT)
  • Author : Lieve Page-Christiaens,Hanns-Georg Klein
  • Publisher :Unknown
  • Release Date :2018-08-19
  • Total pages :405
  • ISBN : 9780128141908
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Summary : 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

Testing Women, Testing the Fetus

Testing Women, Testing the Fetus
  • Author : Rayna Rapp
  • Publisher :Unknown
  • Release Date :2004-11-23
  • Total pages :376
  • ISBN : 9781135963910
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Summary : Rich with the voices and stories of participants, these touching, firsthand accounts examine how women of diverse racial, ethnic, class and religious backgrounds perceive prenatal testing, the most prevalent and routinized of the new reproducing technologies. Based on the author's decade of research and her own personal experiences with amniocentesis, Testing Women, Testing the Fetus explores the "geneticization" of family life in all its complexity and diversity.

Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling
  • Author : R.J. MKinlay Gardner,Grant R Sutherland,Lisa G. Shaffer
  • Publisher :Unknown
  • Release Date :2011-11-11
  • Total pages :634
  • ISBN : 9780195375336
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Summary : Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

A Guide to Genetic Counseling

A Guide to Genetic Counseling
  • Author : Wendy R. Uhlmann,Jane L. Schuette,Beverly Yashar
  • Publisher :Unknown
  • Release Date :2011-09-20
  • Total pages :644
  • ISBN : 9781118210536
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Summary : The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.

A Handbook of Clinical Genetics

A Handbook of Clinical Genetics
  • Author : J. S. Fitzsimmons
  • Publisher :Unknown
  • Release Date :2013-10-22
  • Total pages :168
  • ISBN : 9781483140988
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Summary : A Handbook of Clinical Genetics focuses on clinical genetics and the growing demand for genetic counseling. This book begins by introducing issues regarding changes in morbidity and mortality; fall in birth rate; advances in technology and treatment; and complex social changes. Other topics covered include genetic and environmental factors in disease; the genetic code; pedigree information; inheritance patterns; genetic counseling; prenatal diagnosis of genetic disease; special problems; and ethical issues and future developments. The last portion of this text is devoted to a glossary of unfamiliar medical terms, list of recommended books for further research and study, and appendices consist of a case on genetic counseling for Down's syndrome. This handbook is suitable for nurses, medical students, and doctors needing an introduction to clinical genetics.

Ethical Dilemmas in Genetics and Genetic Counseling

Ethical Dilemmas in Genetics and Genetic Counseling
  • Author : Janice L. Berliner
  • Publisher :Unknown
  • Release Date :2014-09-25
  • Total pages :226
  • ISBN : 9780199944897
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Summary : By using a creative approach that focuses on a single extended family as a case example to illustrate each chapter's key point, the authors elucidate ethical issues arising in the genetics clinic and laboratory surrounding many timely issues.

Exploring Mental Health in the Prenatal Genetic Counseling Setting

Exploring Mental Health in the Prenatal Genetic Counseling Setting
  • Author : Rachel Anne Peralta
  • Publisher :Unknown
  • Release Date :2015
  • Total pages :84
  • ISBN : 1321964765
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Summary : This study was designed to determine if any specific demographic or historical factors could be correlated with depression and anxiety among patients who were being seen for prenatal genetic counseling. Prior to seeing the genetic counselor, participants were given an anonymous 32-question survey that assessed demographics, pregnancy history, genetic counseling referral indication and mental health history, followed by an 8-question PROMIS screen for depression and an 8-question PROMIS screen for anxiety. In total, 122 women participated in the study. Overall, 14.8% of participants screened positive for depression, and 24.6% of participants screened positive for anxiety. We were able to determine 7 demographic/historical factors that correlated with participants0́9 depression status and 7 demographic/historical factors that correlated with participants0́9 anxiety status. The only two factors that were statistically significant for both a positive depression and a positive anxiety screen were the historical questions regarding whether a patient had a prior history of depression and whether there was a personal history of anxiety. The results of the study support the idea that a mental health history assessment is a logical and beneficial extension of the risk assessment that is already performed within the prenatal counseling session. At a minimum, we recommend that a brief mental health history assessment be made through direct questioning of patients in the prenatal genetic counseling setting to identify those who might be at risk for either recurrence or new onset of a mental health disorder during pregnancy or in the post-partum period.

How to Talk with Families About Genetics and Psychiatric Illness

How to Talk with Families About Genetics and Psychiatric Illness
  • Author : Holly Landrum Peay,Jehannine Claire Austin
  • Publisher :Unknown
  • Release Date :2011-01-17
  • Total pages :280
  • ISBN : 9780393706796
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Summary : Addressing clients’ questions and concerns about the role of genetics in mental illness. As we learn more about how our biology and genes can play into the development of a mental health disorder, patients and their families are increasingly seeking answers to tough questions about common risk factors, the likelihood of recurrence, the need for genetic testing, and implications for future generations. A practical, go-to resource for all mental health clinicians, this guide explains just how to address these questions and concerns in a way that’s comprehensible and compassionate. Filled with case studies, sample dialogues, and question-and-answer examples, it is an essential roadmap for practitioners, helping them to demystify a complex issue for their clients and equip them with the accurate, reassuring information they need.