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Author: Mary E Norton Publisher: Elsevier Health Sciences ISBN: 0323530966 Category : Medical Languages : en Pages : 350
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.
Author: Mary E Norton Publisher: Elsevier Health Sciences ISBN: 0323530966 Category : Medical Languages : en Pages : 350
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.
Author: Mary E. Norton Publisher: Elsevier ISBN: 9780323530941 Category : Medical Languages : en Pages : 206
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, and Lorraine Dugoff 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.
Author: Aubrey Milunsky Publisher: Springer Science & Business Media ISBN: 1468451553 Category : Medical Languages : en Pages : 910
Book Description
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.
Author: Amber Mathiesen Publisher: Oxford University Press ISBN: 0190681101 Category : Medical Languages : en Pages : 224
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.
Author: Ian H. Porter Publisher: Elsevier ISBN: 1483264483 Category : Medical Languages : en Pages : 320
Book Description
Perinatal Genetics: Diagnosis and Treatment brings together the proceedings of the 15 Annual New York State Health Department Birth Defects Symposium held on September 30-October 1, 1984 in Albany, New York. The symposium provided a forum for clarifying and rationalizing certain aspects of diagnosis and treatment of perinatal genetic birth defects such as fragile X syndrome, phenylketonuria, and hypothyroidism. Comprised of 17 chapters, this book begins with an epidemiological review of very early pregnancy loss, focusing on fertilization and implantation; the probability of loss between fertilization and implantation (on about the sixth day), and between implantation and the 14th day (the first day of the expected next period in a non-pregnant woman); and the contribution of chromosomal errors in the sperm, ovum, and zygote to early reproductive loss. The reader is then introduced to cytogenetic abnormalities in spontaneous abortions of recognized conceptions; repetitive spontaneous abortion; and prenatal genetic diagnosis by chorionic villus sampling. Subsequent chapters explore prenatal treatment of biochemical disorders; in vitro fertilization and embryo transfer; and moral issues concerning third trimester pregnancy terminations. This monograph will appeal to perinatologists, neonatologists, obstetricians, pediatricians, and geneticists and should also serve as a useful guide for health professionals who provide care to pregnant women and their newborns.
Author: Sam Riedijk Publisher: Academic Press ISBN: 0128233311 Category : Medical Languages : en Pages : 228
Book Description
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, psychologists, social workers, general practitioners, grief workers, translational researchers, and administrators seeking to work in the field of 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 a field where decisions about life or death of a child are made, professionals are bound to encounter uncertainty. This book was co-created by health care practitioners, scientists, patients and students to provide insights and direction for offering support straight from the heart to couples faced with fetal anomalies. To make this possible for all couples, diversity in prenatal genetic counseling is also addressed. Finally, next steps in prenatal genetic counseling research and clinical implementation are discussed. As we are challenged by the rapid advances in prenatal genomics, so are our patients. Learning from our patients with every encounter, this book aims to offer access to the insights we gathered as well as to stimulate lifelong learning. Features a range of international chapter authors addressing prenatal medicine from bench-to-bedside, including health care practitioners, scientists, patients and students 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 and addresses diversity in prenatal genetic counseling Discusses next steps for prenatal genetic counseling research and common challenges in the clinic, with detailed case descriptions offering insights from the authors’ counseling experiences
Author: Peter C.K. Leung Publisher: Elsevier ISBN: 0323913814 Category : Science Languages : en Pages : 930
Book Description
Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control underlying the development of the reproductive tracts and gametogenesis, the genetics of fertilization and implantation, the genetic basis of female and male infertility, as well as genetic and epigenetic aspects of assisted reproduction. Also examined are the genetics and epigenetics of the placenta in normal and abnormal pregnancy, preimplantation genetic diagnosis and screening, and cutting-edge advances in noninvasive prenatal screening, prenatal genetic counseling, and bioethical and medicolegal aspects of relevance in the lab and clinic. This new edition has been fully revised to address new and evolving technologies in human reproductive genetics, with new chapters added on chromatin landscapes and sex determination, genetic alterations of placental development and preeclampsia, metabolism and inflammation in PCOS, pre-implantational genetic testing, maternal genetic disorders, bioethics, and future applications. 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, placental development, embryo 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 Includes all new chapters on evolving technologies and recent genetic discoveries of relevance to reproductive medicine
Author: Institute of Medicine Publisher: National Academies Press ISBN: 0309047986 Category : Medical Languages : en Pages : 353
Book Description
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 decision-making, 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.
Author: Peter C. K. Leung Publisher: Academic Press ISBN: 0128135719 Category : Medical Languages : en Pages : 709
Book Description
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
Author: Erin M. Denney-Koelsch Publisher: Springer Nature ISBN: 3030347516 Category : Medical Languages : en Pages : 443
Book Description
This unique book is a first-of-its-kind resource that comprehensively covers each facet and challenge of providing optimal perinatal palliative care. Designed for a wide and multi-disciplinary audience, the subjects covered range from theoretical to the clinical and the practically relevant, and all chapters include case studies that provide real-world scenarios as additional teaching tools for the reader. Perinatal Palliative Care: A Clinical Guide is divided into four sections. Part One provides the foundation, covering an overview of the field, key theories that guide the practice of perinatal palliative care, and includes a discussion of perinatal ethics and parental experiences and needs upon receiving a life-limiting fetal diagnosis. Part Two delves further into practical clinical care, guiding readers through issues of obstetrical management, genetic counseling, neonatal pain management, non-pain symptom management, spiritual care, and perinatal bereavement care. Part Three discusses models of perinatal palliative care, closely examining evidence for different types of PPC programs: from hospital-based programs, to community-based care, and examines issues of interdisciplinary PPC care coordination, birth planning, and team support. Finally, Part Four concludes the book with a close look at special considerations in the field. In this section, racial, ethnic, and cultural perspectives and implications for PPC are discussed, along with lessons in how to provide PPC for a wide-range of clinical and other healthcare workers. The book closes with a look to the future of the field of perinatal palliative care. Thorough and practical, Perinatal Palliative Care: A Clinical Guide is an ideal resource for any healthcare practitioner working with these vulnerable patient populations, from palliative care specialists, to obstetricians, midwifes, neonatologists, hospice providers, nurses, doulas, social workers, chaplains, therapists, ethicists, and child life specialists.