Perinatal Genetics

Perinatal Genetics
Author: Mary E Norton
Publisher: Elsevier Health Sciences
Total Pages: 207
Release: 2019-01-23
Genre: Medical
ISBN: 0323530966

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

Foundations of Perinatal Genetic Counseling, 2nd Edition

Foundations of Perinatal Genetic Counseling, 2nd Edition
Author: Kali Bogaard Roy
Publisher: Oxford University Press
Total Pages: 393
Release: 2024-07-19
Genre: Medical
ISBN: 0197677177

Foundations of Perinatal Genetic Counseling is the first book to provide a practical introduction to the concepts and skills needed to practice genetic counseling with clients before and during pregnancy. In this new edition, the authors provide a revised and updated overview of these concepts including pregnancy basics, information of the perinatal genetic counseling session and family history, testing options and procedures (e.g., diagnostic testing, screening, carrier screening, assisted reproductive technology), common indications, pregnancy management, common counseling situations, and suggested learning activities. With newly expanded material, updated guidelines, and discussions on technological and procedural advancements in the field, Foundations of Perinatal Genetic Counseling: Second Edition is an essential companion for both the classroom and the clinic. Authored by genetic counselors at the forefront of contemporary perinatal practice, this all-in-one reference provides an accessible yet comprehensive overview of the most pertinent information for new learners and practicing counselors. Perinatal genetic counselors will find themselves returning to this unique resource long after their training has come to an end.

Assessing Genetic Risks

Assessing Genetic Risks
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 353
Release: 1994-01-01
Genre: Medical
ISBN: 0309047986

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.

Prenatal Genetic Counseling

Prenatal Genetic Counseling
Author: Sam Riedijk
Publisher: Academic Press
Total Pages: 228
Release: 2021-10-20
Genre: Medical
ISBN: 0128233311

**Selected for Doody's Core Titles® 2024 in Clinical Genetics**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

Perinatal Genetics

Perinatal Genetics
Author: Ian H. Porter
Publisher: Elsevier
Total Pages: 321
Release: 2013-09-03
Genre: Medical
ISBN: 1483264483

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.

Perinatal Palliative Care

Perinatal Palliative Care
Author: Erin M. Denney-Koelsch
Publisher: Springer Nature
Total Pages: 443
Release: 2020-02-05
Genre: Medical
ISBN: 3030347516

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.

Perinatal Neuropathology

Perinatal Neuropathology
Author: Mirna Lechpammer
Publisher:
Total Pages:
Release: 2021
Genre: Nervous system
ISBN: 9781316671863

"1 Clinical history, clinical correlations with placental pathology and prematurity The initial steps in the process of perinatal nervous system evaluation, namely the planning of the optimal approach and choice of samples to be obtained, are driven by the clinical context. Of key importance are the following data: a. Gestational age at time of demise (if stillborn); or gestational age and postnatal age (if liveborn), for comparison with normative standards of development (see Appendix); b. State of maternal health (age, parity, pre-existing medical conditions or ones appearing during gestation or around the time of delivery, exposure to medications/toxins/infections), and of health of siblings or other family members: - Concerns for inherited (i.e., genetic) conditions, metabolic disorders, congenital infections, etc., may indicate the need for special testing; c. Details of prenatal course, including any imaging, amniocentesis, or monitoring: - Prenatal imaging modalities most commonly consist of transabdominal ultrasonography, generally done at the time of the first prenatal visit (to confirm pregnancy) or more usually in the mid-second-trimester for detection of fetal or placental anomalies"--

Human Reproductive and Prenatal Genetics

Human Reproductive and Prenatal Genetics
Author: Peter C.K. Leung
Publisher: Elsevier
Total Pages: 930
Release: 2023-03-22
Genre: Science
ISBN: 0323913814

**Selected for Doody's Core Titles® 2024 in Clinical Genetics** 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

Born Well: Prenatal Genetics and the Future of Having Children

Born Well: Prenatal Genetics and the Future of Having Children
Author: Megan A. Allyse
Publisher: Springer Nature
Total Pages: 145
Release: 2021-11-24
Genre: Philosophy
ISBN: 3030825361

This book brings together an international collection of experts in reproductive ethics, law, disability studies, and medicine to explore the challenging future of reproduction and children. From the medical to the social and from the financial to the legal, the authors explore the expanding impact of reproductive genetics on our society. New advances in genetic technologies are revolutionizing the practice of reproductive medicine. We have expanded our ability to detect genetic changes in embryos and fetuses in ways that potentially allow to identify, treat, or prevent a growing range of diseases. The development of gene-editing technologies raises questions about the possibility of removing disease-causing variants from embryos before pregnancy implantation. The growing sophistication of prenatal genomic sequencing offers us glimpses into the whole genome of the developing fetus. And, the increasingly sophisticated science of 'gene matching' allows us greater and greater foreknowledge of how the genomes of two individuals will combine in a future child. This is an indispensable book on the newest developments in bioethics caused by the sciences. Chapter 5 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.