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Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling Book
Author : Amber Mathiesen,Kali Roy
Publisher : Oxford University Press
Release : 2018
ISBN : 0190681098
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Sam Riedijk,Karin E.M. Diderich
Publisher : Academic Press
Release : 2021-07-15
ISBN : 9780128233290
Language : En, Es, Fr & De

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Book Description :

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

Women and Prenatal Testing

Women and Prenatal Testing Book
Author : Karen H. Rothenberg
Publisher : Ohio State University Press
Release : 1994-01-01
ISBN : 0814206409
Language : En, Es, Fr & De

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Book Description :

"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

Prenatal Genetic Counseling in Congenital Anomalies

Prenatal Genetic Counseling in Congenital Anomalies Book
Author : Mihaela Amelia Dobrescu
Publisher : Unknown
Release : 2018
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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.

Perinatal Genetics

Perinatal Genetics Book
Author : Mary E Norton,Jeffrey A. Kuller,Lorraine Dugoff
Publisher : Elsevier Health Sciences
Release : 2019-01-23
ISBN : 0323530966
Language : En, Es, Fr & De

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Book Description :

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.

Influence of Personal and Professional Experiences on Prenatal Genetic Counseling

Influence of Personal and Professional Experiences on Prenatal Genetic Counseling Book
Author : Angelica Randall
Publisher : Unknown
Release : 2017
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Genetic counselors, tasked with promoting autonomous patient decision-making, are continually challenged to acknowledge both the positive adaptations and potential negative impacts of countertransference during a session. With the ultimate goal of developing strategies for managing this inevitable phenomenon, this exploratory study represents a preliminary investigation of countertransference in the prenatal setting, examining the influence of counselors’ personal predilections and experiences on their opinions and counseling of prenatal genetic testing options. An online mixed methods survey was administered to prenatal genetic counselors through the NSGC Student Research Survey Program and 154 responses were received. Results from this study suggest that counselors’ opinions of CVS, amniocentesis, and cfDNA screening may vary based on certain demographics, personal preferences, and experiences. Evidence also showed that genetic counselors that had altered perceptions of CVS, amniocentesis, and cfDNA after experiencing each of these tests might be significantly more likely to then modify the way they present them to patients. Both positive and negative effects of such experiences on counseling were recorded based on themes developed from open-ended survey responses. Prospective directions for further research on countertransference in genetic counseling are also discussed. Preliminary findings from the present study can inform and encourage counselor recognition of countertransference, though continued research is vital to more comprehensively describe its function in genetic counseling and to examine potential downstream effects on patient decision-making.

Psychosocial Genetic Counseling

Psychosocial Genetic Counseling Book
Author : Jon Weil
Publisher : Oxford University Press
Release : 2000-09-07
ISBN : 0195120663
Language : En, Es, Fr & De

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Book Description :

This text provides a comprehensive account of the psychosocial aspects of genetic counseling, combining theoretical and practical approaches with many clinical vignettes. It covers the psychosocial effects of genetic disorders on individuals, couples, and families; counseling techniques and the counseling session agenda; prenatal diagnosis counseling, cancer risk counseling, and genetic counseling with children and adolescents; the psychology of risk interpretation and decision making; and the influence of ethnocultural issues on counselees and counselor.

Ethical Dilemmas in Genetics and Genetic Counseling

Ethical Dilemmas in Genetics and Genetic Counseling Book
Author : Janice Berliner MS, CGC
Publisher : Oxford University Press
Release : 2014-09-15
ISBN : 0190206632
Language : En, Es, Fr & De

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Book Description :

Knowledge of the genetic basis of human diseases is growing rapidly, with important implications for pre-conceptional, prenatal, and predictive testing. While new genetic testing offers better insight into the causes of and susceptibility for heritable diseases, not all inherited diseases that can be predicted on the basis of genetic information can be treated or cured. Should we test everyone who wants to know his or her genetic status, even when there are no possibilities for treatment? What is the role of the "right-not-to-know?" Do we test children for adult onset disorders because the parents just "have to know" or do we respect the children's right to choose when they are older? Do we allow commercial companies to offer genetic tests directly to consumers without the proper oversight regarding what the test results will mean? 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, including: · prenatal and pre-implantation genetic diagnosis · assisted reproductive technologies · incidental findings in genetic testing · gene patenting · testing children for adult onset disorders · direct to consumer testing Ethical Dilemmas in Genetic Counseling: Principles through Case Scenarios is essential reading for anyone interested in the ethical issues surfacing in common genetics practice. Written exclusively by genetic counselors, it makes a significant contribution to the field of ethics in genetics and thus will appeal not only to genetic counselors but to physicians, nurses, and all those concerned with bioethics and social science.

Practical Genetic Counseling for the Laboratory

Practical Genetic Counseling for the Laboratory Book
Author : McKinsey L. Goodenberger,Brittany C. Thomas,Teresa Kruisselbrink
Publisher : Oxford University Press
Release : 2017-03-28
ISBN : 0190604921
Language : En, Es, Fr & De

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Book Description :

An essential manual for the future of genetic counseling Genetic counselors possess the important set of skills necessary to face the unique challenges encountered within the laboratory. As the primary liaisons between genetic technologies and patient-facing clinicians, lab counselors must have equal competency in genetic testing protocols, interpretation, and communication of clinical recommendations. Practical Genetic Counseling for the Laboratory is the first book to codify the theory and practice of laboratory genetic counseling in an accessible and comprehensive format. With contributions from laboratorians, geneticists, and genetic counselors from more than 30 institutions, it offers a manual of standards and practices that will benefit students and counselors at any career stage. Topical coverage includes: - Interpretation of genetic tests, including those specific to biochemical genetics, cytogenetics, molecular genetics, and prenatal screening - Practical guidelines for test utilization, test development, and laboratory case management - Elements for education and training in the laboratory - Counseling skills, including the consideration of ethical dilemmas, nonclinical considerations, including sales and publishing For students in this important sector of the industry or for counselors already working in it, Practical Genetic Counseling for the Laboratory offers readers a standardized approach to a dynamic subject matter that will help shape the field's future.

Harper s Practical Genetic Counselling

Harper s Practical Genetic Counselling Book
Author : Angus Clarke
Publisher : Unknown
Release : 2019-10-08
ISBN : 9780367371906
Language : En, Es, Fr & De

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Book Description :

Preceded by Practical genetic counselling / Peter S. Harper. 7th ed. 2010.

Exploring Mental Health in the Prenatal Genetic Counseling Setting

Exploring Mental Health in the Prenatal Genetic Counseling Setting Book
Author : Rachel Anne Peralta
Publisher : Unknown
Release : 2015
ISBN : 9781321964769
Language : En, Es, Fr & De

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Book Description :

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.

Prenatal Diagnosis and Genetic Counseling of Omphalocele

Prenatal Diagnosis and Genetic Counseling of Omphalocele Book
Author : ChenChin-Ping
Publisher : Elsevier Health Sciences TW
Release : 2007
ISBN : 9789868379206
Language : En, Es, Fr & De

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Book Description :

Download Prenatal Diagnosis and Genetic Counseling of Omphalocele book written by ChenChin-Ping, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genetic Disorders and the Fetus

Genetic Disorders and the Fetus Book
Author : Aubrey Milunsky,Jeff M. Milunsky
Publisher : John Wiley & Sons
Release : 2021-04-19
ISBN : 1119676959
Language : En, Es, Fr & De

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Book Description :

"The time is fast approaching when virtually all the culprit genes and their mutations for 7,000 rare monogenic disorders1 will be known. Thus far causal single genes and their mutations have been determined for 5,6732 genetic disorders, enabling pre-implantation genetic testing or prenatal genetic diagnosis. These advances using chromosomal microarrays, whole exome sequencing and even whole genome sequencing together with fetal imaging, and non-invasive prenatal testing, expand the era in which all couples have the option of avoiding or preventing having children with irreversible, irremediable, crippling, or lethal monogenic disorders. Primary care physicians, and those in all medical specialties, will need to inform their patients of this key option. This imperative is already partly in current practice. Missing is the requirement of physicians to request and obtain the precise name of the genetic disorder in question or an existing DNA report on a family member, for prospective parents to benefit from available options"--

Prenatal Diagnosis

Prenatal Diagnosis Book
Author : Miriam S. DiMaio,Joyce E. Fox,Maurice J. Mahoney
Publisher : John Wiley & Sons
Release : 2011-04-06
ISBN : 9781444341546
Language : En, Es, Fr & De

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Book Description :

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.

Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling Book
Author : Amber Mathiesen,Kali Roy
Publisher : Unknown
Release : 2018
ISBN : 9780190681111
Language : En, Es, Fr & De

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Book Description :

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.

Prenatal Testing and Disability Rights

Prenatal Testing and Disability Rights Book
Author : Erik Parens,Adrienne Asch
Publisher : Georgetown University Press
Release : 2000-09-28
ISBN : 9781589013940
Language : En, Es, Fr & De

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Book Description :

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.

Prenatal diagnosis and genetic counseling of Neural tube defects

Prenatal diagnosis and genetic counseling of Neural tube defects Book
Author : Chih-Ping Chen
Publisher : Elsevier Health Sciences TW
Release : 2009
ISBN : 9789866538230
Language : En, Es, Fr & De

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Book Description :

Download Prenatal diagnosis and genetic counseling of Neural tube defects book written by Chih-Ping Chen, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

What Happens During the Prenatal Genetic Counseling Session

What Happens During the Prenatal Genetic Counseling Session Book
Author : Yelena Kemel
Publisher : Unknown
Release : 2000
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download What Happens During the Prenatal Genetic Counseling Session book written by Yelena Kemel, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Fetal Morph Functional Diagnosis

Fetal Morph Functional Diagnosis Book
Author : Hideaki Masuzaki
Publisher : Springer Nature
Release : 2020-12-05
ISBN : 9811581711
Language : En, Es, Fr & De

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Book Description :

This book explores the recent clinical and research findings in the field of prenatal screening and diagnosis. It presents new devices and tests such as real-time 3D ultrasound, ultrafast fetal MRI, and next-generation sequencing and discusses genetic counseling and fetal therapy. Written by pioneering scientists, the book is divided into six themed parts: ultrasound examination, genetic tests, genetic disorders, chromosomal diseases, genetic counseling, and techniques, presenting carefully prepared original data.This thought-provoking, instructive and informative book is intended for geneticists, obstetricians, pediatricians, genetic counselors and nurses. Although the incidence of congenital abnormalities such as structural, chromosomal and genetic disorders is very low, it is important to have accurate information on their incidence and likely outcome, and on the screening and diagnosis of congenital abnormalities during pregnancy care. This book provides valuable insights into prenatal screening, genetic counseling and fetal diagnosis.

Facilitating the Genetic Counseling Process

Facilitating the Genetic Counseling Process Book
Author : Patricia McCarthy Veach,Bonnie S. LeRoy,Dianne M. Bartels
Publisher : Springer Science & Business Media
Release : 2003-08-14
ISBN : 0387003304
Language : En, Es, Fr & De

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Book Description :

Every parent hopes for a healthy, "normal" baby, but not all babies fall into that category. On a daily basis, genetic counselors help clients, at whatever stage of intended or actual pregnancy, navigate both the purely clincial manifestations of a complicated birth and the short and long term emotional impact. This manual helps students learn how to guide clients through this complex and difficult process. Designed to help students learn these basic counseling skills, FACILITATING THE GENETIC COUNSELING PROCESS takes a "how to" approach to these complex and emotionally charged client interactions.