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Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling
  • Author : Amber Mathiesen,Kali Roy
  • Publisher :Unknown
  • Release Date :2018
  • Total pages :288
  • ISBN : 9780190681098
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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

Genetic Disorders and the Fetus

Genetic Disorders and the Fetus
  • Author : Aubrey Milunsky
  • Publisher :Unknown
  • Release Date :2012-12-06
  • Total pages :924
  • ISBN : 9781468451559
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Summary : 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.

Women and Prenatal Testing

Women and Prenatal Testing
  • Author : Karen H. Rothenberg
  • Publisher :Unknown
  • Release Date :1994-01-01
  • Total pages :304
  • ISBN : 9780814206409
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Summary : "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

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.

Influence of Personal and Professional Experiences on Prenatal Genetic Counseling

Influence of Personal and Professional Experiences on Prenatal Genetic Counseling
  • Author : Angelica Randall
  • Publisher :Unknown
  • Release Date :2017
  • Total pages :62
  • ISBN : OCLC:1002306254
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Summary : 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.

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.

Patients' Perspectives on Screening for Domestic Violence in a Prenatal Genetic Counseling Session

Patients' Perspectives on Screening for Domestic Violence in a Prenatal Genetic Counseling Session
  • Author : Jamie Lynn Kostialik
  • Publisher :Unknown
  • Release Date :2011
  • Total pages :90
  • ISBN : 1124674799
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Summary : This study was designed to assess prenatal genetic counseling patients' level of comfort regarding screening for domestic violence. With this information, it is our hope that an effective method of screening patients can be implemented. A short, anonymous questionnaire was designed to measure patients' level of comfort with their counselor and the topic of domestic violence, their previous and current safety status, and knowledge of domestic violence. 105 participants took part in the study after seeing a genetic counselor for a prenatal genetic evaluation. Overall, 90% of participants reported being very comfortable with the questions their genetic counselor asked. Furthermore, 69% reported that their level of comfort would not change if certain questions used to screen for domestic violence were asked. Additionally, 25% of participants were classified as "unsafe." Four percent of participants reported being abused by their current partner/husband before becoming pregnant, and 2% reported being abused currently. The mean scores for knowledge of domestic violence out of a possible 100% were 39% and 32% for the safe and unsafe populations, respectively. This demonstrates a lack of knowledge of domestic violence despite level of safety. In conclusion, roughly a quarter of participants were found to be "unsafe." Participants were comfortable with their prenatal genetic counselors and certain questions used to screen for domestic violence. Additionally, all participants were uneducated regarding domestic violence. This study demonstrates that screening patients for domestic violence would be well received by prenatal genetic counseling patients and would prove to be a worthwhile endeavor.

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.

Practical Genetic Counseling for the Laboratory

Practical Genetic Counseling for the Laboratory
  • Author : McKinsey L. Goodenberger,Brittany C. Thomas,Teresa Kruisselbrink
  • Publisher :Unknown
  • Release Date :2017-03-28
  • Total pages :400
  • ISBN : 9780190604929
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Summary : 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.

Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling
  • Author : Amber Mathiesen,Kali Roy
  • Publisher :Unknown
  • Release Date :2018
  • Total pages :229
  • ISBN : 019068111X
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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 gene.

Reproductive Genetics

Reproductive Genetics
  • Author : Sean Kehoe,Lyn Chitty,Tessa Homfray
  • Publisher :Unknown
  • Release Date :2009-11
  • Total pages :242
  • ISBN : 9781906985165
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Summary : This book presents the findings of the RCOG Study Group findings on genetics underlying reproductive function.

Cross-cultural Medicine

Cross-cultural Medicine
  • Author : JudyAnn Bigby,American College of Physicians--American Society of Internal Medicine
  • Publisher :Unknown
  • Release Date :2003-01
  • Total pages :289
  • ISBN : 9781930513020
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Summary : Primary Care physicians often run into unexpected cultural obstacles when dealing with patients of different ethnicities. This book includes information essential to physicians' understanding in the treatment of African Americans, Latinos, Asian Americans, Native Americans and Arab and Muslim Americans. Other chapters address issues of spirituality and religion in medicine and caring for immigrant populations.

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.

Fetal Morph Functional Diagnosis

Fetal Morph Functional Diagnosis
  • Author : Hideaki Masuzaki
  • Publisher :Unknown
  • Release Date :2020-12-05
  • Total pages :354
  • ISBN : 9789811581717
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Summary : 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.

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.

Prenatal Diagnosis

Prenatal Diagnosis
  • Author : Miriam S. DiMaio,Joyce E. Fox,Maurice J. Mahoney
  • Publisher :Unknown
  • Release Date :2011-04-06
  • Total pages :136
  • ISBN : 1444341545
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Summary : 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.

What Happens During the Prenatal Genetic Counseling Session

What Happens During the Prenatal Genetic Counseling Session
  • Author : Yelena Kemel
  • Publisher :Unknown
  • Release Date :2000
  • Total pages :152
  • ISBN : OCLC:45790834
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Summary :

Harper's Practical Genetic Counselling, Eighth Edition

Harper's Practical Genetic Counselling, Eighth Edition
  • Author : Angus Clarke
  • Publisher :Unknown
  • Release Date :2016-06-15
  • Total pages :448
  • ISBN : 1444183745
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Summary : Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet '...this book is a wonderful reference to enable primary physicians to be informed about their patients.' Annals of Internal Medicine Universally used across the world by genetic counsellors, medical geneticists and clinicians alike, Harper's Practical Genetic Counselling has established itself as the essential guide to counselling those at risk from inherited disorders. Increasingly, common disorders are known to have a genetic component and this book provides invaluable and up to date guidance through the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns. Within its established, tried and trusted framework, the book contains new chapters on: laboratory methods, new genetic sequencing techniques and the applications of genome-wide SNP association studies, genetic susceptibility, cross cultural aspects and the genetic counselling process. It has expand chapters on genetic screening and screening of newborn, treatment techniques and rational approaches to treatment, non-Mendelian inheritance, free fetal DNA in prenatal screening and diagnosis. Key features: - Fully updated to provide the very latest information when in a busy consulting room or clinic - Clear and authoritative advice applicable to everyday clinical practice - Reflects the rapid development of knowledge in this area, including the implications of the human genome project and related technology The eighth edition of this popular, best selling text continues to be an essential source of reference for trainee and practitioner genetic counsellors, medical geneticists and clinicians. Also it provides valuable background for specialist nurses, counsellors, social scientists, ethicists as well as genetics laboratory staff.

Psychosocial Genetic Counseling

Psychosocial Genetic Counseling
  • Author : Jon Weil
  • Publisher :Unknown
  • Release Date :2000-09-07
  • Total pages :297
  • ISBN : 9780195120660
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Summary : 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.

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.