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Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling
A Book

by Amber Mathiesen,Kali Roy

  • Publisher : Oxford University Press
  • Release : 2018
  • Pages : 288
  • ISBN : 0190681098
  • Language : En, Es, Fr & De
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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
Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty

by Sam Riedijk,Karin E.M. Diderich

  • Publisher : Academic Press
  • Release : 2021-07-15
  • Pages : 312
  • ISBN : 9780128233290
  • Language : En, Es, Fr & De
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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
Facing the Challenges of Genetic Technology

by Karen H. Rothenberg

  • Publisher : Ohio State University Press
  • Release : 1994-01-01
  • Pages : 304
  • ISBN : 0814206409
  • Language : En, Es, Fr & De
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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

Prenatal Genetic Counseling in Congenital Anomalies

Prenatal Genetic Counseling in Congenital Anomalies
A Book

by Mihaela Amelia Dobrescu

  • Publisher : Unknown Publisher
  • Release : 2018
  • Pages : 129
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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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.

Influence of Personal and Professional Experiences on Prenatal Genetic Counseling

Influence of Personal and Professional Experiences on Prenatal Genetic Counseling
A Book

by Angelica Randall

  • Publisher : Unknown Publisher
  • Release : 2017
  • Pages : 62
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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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.

Fetal Morph Functional Diagnosis

Fetal Morph Functional Diagnosis
A Book

by Hideaki Masuzaki

  • Publisher : Springer Nature
  • Release : 2020-12-05
  • Pages : 354
  • ISBN : 9811581711
  • Language : En, Es, Fr & De
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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.

Exploring Mental Health in the Prenatal Genetic Counseling Setting

Exploring Mental Health in the Prenatal Genetic Counseling Setting
A Book

by Rachel Anne Peralta

  • Publisher : Unknown Publisher
  • Release : 2015
  • Pages : 84
  • ISBN : 9781321964769
  • Language : En, Es, Fr & De
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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.

Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling
A Guide for Counselors

by Amber Mathiesen,Kali Roy

  • Publisher : Unknown Publisher
  • Release : 2018
  • Pages : 129
  • ISBN : 9780190681111
  • Language : En, Es, Fr & De
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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.

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
A Book

by Jamie Lynn Kostialik

  • Publisher : Unknown Publisher
  • Release : 2011
  • Pages : 90
  • ISBN : 9781124674797
  • Language : En, Es, Fr & De
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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.

Prenatal Diagnosis

Prenatal Diagnosis
Cases and Clinical Challenges

by Miriam S. DiMaio,Joyce E. Fox,Maurice J. Mahoney

  • Publisher : John Wiley & Sons
  • Release : 2011-04-06
  • Pages : 136
  • ISBN : 9781444341546
  • Language : En, Es, Fr & De
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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.

Practical Genetic Counseling for the Laboratory

Practical Genetic Counseling for the Laboratory
A Book

by McKinsey L. Goodenberger,Brittany C. Thomas,Teresa Kruisselbrink

  • Publisher : Oxford University Press
  • Release : 2017-03-28
  • Pages : 400
  • ISBN : 0190604921
  • Language : En, Es, Fr & De
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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.

Perinatal Genetics

Perinatal Genetics
A Book

by Mary E Norton,Jeffrey A. Kuller,Lorraine Dugoff

  • Publisher : Elsevier Health Sciences
  • Release : 2019-01-23
  • Pages : 350
  • ISBN : 0323530966
  • Language : En, Es, Fr & De
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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.

Prenatal diagnosis and genetic counseling of Neural tube defects

Prenatal diagnosis and genetic counseling of Neural tube defects
A Book

by Chih-Ping Chen

  • Publisher : Elsevier Health Sciences TW
  • Release : 2009
  • Pages : 342
  • ISBN : 9789866538230
  • Language : En, Es, Fr & De
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Male Partners' Roles in Prenatal Genetic Counseling

Male Partners' Roles in Prenatal Genetic Counseling
Expectations, Needs, and Satisfaction

by Sallie Lou McAdoo

  • Publisher : Unknown Publisher
  • Release : 2000
  • Pages : 104
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Prenatal Diagnosis and Genetic Counseling of Omphalocele

Prenatal Diagnosis and Genetic Counseling of Omphalocele
A Book

by ChenChin-Ping

  • Publisher : Elsevier Health Sciences TW
  • Release : 2007
  • Pages : 198
  • ISBN : 9789868379206
  • Language : En, Es, Fr & De
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Genetic Disorders and the Fetus

Genetic Disorders and the Fetus
Diagnosis, Prevention and Treatment

by Aubrey Milunsky,Jeff M. Milunsky

  • Publisher : John Wiley & Sons
  • Release : 2021-06-08
  • Pages : 1392
  • ISBN : 1119676932
  • Language : En, Es, Fr & De
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"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"--

What Happens During the Prenatal Genetic Counseling Session

What Happens During the Prenatal Genetic Counseling Session
Exploratory Study of Genetic Counseling

by Yelena Kemel

  • Publisher : Unknown Publisher
  • Release : 2000
  • Pages : 152
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Psychosocial Genetic Counseling

Psychosocial Genetic Counseling
A Book

by Jon Weil

  • Publisher : Oxford University Press
  • Release : 2000-09-07
  • Pages : 320
  • ISBN : 9780199747740
  • Language : En, Es, Fr & De
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Psychosocial issues are integral to all genetic counseling interactions. They include counselees' beliefs about the cause of birth defects and genetic disorders, the cognitive procession of medical information and risk figures, emotions such as anxiety and guilt, and the complex process of decision making. Drawing on direct clinical experience and the growing body of relevant literature, Psychosocial Genetic Counseling provides a comprehensive, integrated approach to understanding these issues and their applications to genetic counseling. The book combines theoretical and practical approaches, including many clinical vignettes and examples of dialogue. It is written in an engaging style that conveys the emotional immediacy of genetic counseling. The emotional and social effects of genetic disorders are discussed with reference to the individual and to couple, family, and social interactions. Counseling techniques and the agenda of the genetic counseling session are then addressed in detail. Specialized aspects of prenatal diagnosis counseling, cancer risk counseling, and genetic counseling with children and adolescents are integrated with these general principles. Nondirective counseling and the psychology of risk interpretation and decision making are discussed from theoretical and historical perspectives, leading to recommendations for their application to clinical practice. The influences of ethnocultural history, beliefs and practices, for counselee and counselor, are then discussed as they enter into all aspects of genetic counseling.

Analysis of Referrals for Prenatal Genetic Counseling

Analysis of Referrals for Prenatal Genetic Counseling
Recommendations for Delivery of Genetic Services and Implications for Genetic Counseling

by Carrie Leigh Mastromarino

  • Publisher : Unknown Publisher
  • Release : 2000
  • Pages : 80
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Ethical Dilemmas in Genetics and Genetic Counseling

Ethical Dilemmas in Genetics and Genetic Counseling
Principles Through Case Scenarios

by Janice L. Berliner

  • Publisher : Oxford University Press, USA
  • Release : 2014-09-25
  • Pages : 226
  • ISBN : 019994489X
  • Language : En, Es, Fr & De
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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.