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| aneuploidy in fetus affecting management of mother: Dépistage Génétique Et la Vie Privée Privacy Commissioner of Canada, 1992 This report gives a simplified description of the scientific fundamentals of genetic testing and describes its present applications; establishes broad privacy principles to guide both the public and private sectors on testing matters; examines specifically how the Privacy Act regulates genetic testing by government institutions; and addresses the growing need to consider regulating private sector genetic testing. A summary of positions taken by other countries and international organizations on privacy and genetic testing is also included. |
| aneuploidy in fetus affecting management of mother: Practical Guide to Oral Exams in Obstetrics and Gynecology Görker Sel, 2019-11-13 This book, based on non-interactive question-and-answer format, offers an essential guide for medical students who need to prepare for oral exams or clinical visits. Starting from specific clinical situations the volume provides clear questions on the theory related to the cases. Each question is followed by correct answers that summarize the main information. Suggested reading are included to deepen the topics and enhance the readers knowledge. Accordingly, this practical guide will help students get ready for their oral exams, and help prepare young residents for their first clinical cases. |
| aneuploidy in fetus affecting management of mother: Noninvasive Prenatal Testing (NIPT) Lieve Page-Christiaens, Hanns-Georg Klein, 2018-08-19 Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation. - Provides a thorough, practical examination of the history of NIPT, NIPT laboratory techniques and bioinformatics, NIPT screening and diagnostics for a wide range of disorders and birth defects - Presents leading, international experts who discuss the application of NIPT in early screening for common aneuploidies, fetal chromosome anomalies, autosomal trisomies, fetal blood group typing, and maternal constitutional and acquired copy number variants - Includes full color imagery that enhances concept illustration, along with detailed descriptions of the benefits (and limitations) of NIPT - Offers clinicians, researchers, genetic counselors and reproductive specialists of all kinds the required background information, methodologies and essential patient counseling techniques |
| aneuploidy in fetus affecting management of mother: Fetal Medicine Bidyut Kumar, Zarko Alfirevic, 2016-04-07 Based on the RCOG Training Module in Fetal Medicine, this book provides a knowledge base for practitioners in obstetrics and maternal-fetal medicine. |
| aneuploidy in fetus affecting management of mother: Placental-Fetal Growth Restriction Christoph Lees, Gerard H. A. Visser, Kurt Hecher, 2018-03-31 Master the effective evaluation, analysis and management of placental-fetal growth restriction (PFGR), reducing the risk of perinatal mortality and morbidity in patients worldwide. Extensively researched by international experts, this manual provides practitioners with a detailed, hands-on approach to the practical 'pearls' for direct patient management. This authoritative volume advises on matters such as the correct evaluation and management of high-risk patients in danger of PFGR through to delivery. Extensive and wide-ranging, this book is an invaluable companion to the developing research interest and clinical applications in PFGR, including developmental outcomes in early childhood. Featuring a critical evaluation of a variety of abnormal conditions, such as fetal hypoxia, which are clearly displayed through extensive illustrations. This essential toolkit ensures that practitioners of all levels can effectively limit the risk of mortality and morbidity, and reach the correct diagnosis, first-time. |
| aneuploidy in fetus affecting management of mother: Diseases of the Newborn Alexander J. Schaffer, Mary Ellen Avery, 1977 Over 9000 English-language entries to medical terminology, with etymology given in Japanese and English. Entries include word in English; part of speech; Greek, Latin, or other roots; and elements of word. |
| aneuploidy in fetus affecting management of mother: Assessing Genetic Risks Institute of Medicine, Committee on Assessing Genetic Risks, 1994-01-01 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. |
| aneuploidy in fetus affecting management of mother: The EBCOG Postgraduate Textbook of Obstetrics & Gynaecology Tahir Mahmood, Charles Savona Ventura, Ioannis Messinis, Sambit Mukhopadhyay, 2021-12-02 This authoritative textbook provides a much-needed guide for postgraduate trainees preparing for the European Board and College of Obstetrics and Gynaecology (EBCOG) Fellowship examination. Published in association with EBCOG, it fully addresses the competencies defined by the EBCOG curriculum and builds the clinical practice related to these competencies upon the basic science foundations. Volume 1 covers the depth and breadth of obstetrics, and draws on the specialist knowledge of four highly experienced Editors and over 100 contributors from across Europe, reflecting the high-quality training needed to ensure the safety and quality of healthcare for women and their babies. It incorporates key international guidelines throughout, along with colour diagrams and photographs for easy understanding. This is an invaluable resource, not only for postgraduate trainees planning to sit the EFOG examination, but also for practising specialists looking to update their knowledge and skills to meet the ever-evolving complexity of clinical practice. |
| aneuploidy in fetus affecting management of mother: Preterm Birth Institute of Medicine, Board on Health Sciences Policy, Committee on Understanding Premature Birth and Assuring Healthy Outcomes, 2007-05-23 The increasing prevalence of preterm birth in the United States is a complex public health problem that requires multifaceted solutions. Preterm birth is a cluster of problems with a set of overlapping factors of influence. Its causes may include individual-level behavioral and psychosocial factors, sociodemographic and neighborhood characteristics, environmental exposure, medical conditions, infertility treatments, and biological factors. Many of these factors co-occur, particularly in those who are socioeconomically disadvantaged or who are members of racial and ethnic minority groups. While advances in perinatal and neonatal care have improved survival for preterm infants, those infants who do survive have a greater risk than infants born at term for developmental disabilities, health problems, and poor growth. The birth of a preterm infant can also bring considerable emotional and economic costs to families and have implications for public-sector services, such as health insurance, educational, and other social support systems. Preterm Birth assesses the problem with respect to both its causes and outcomes. This book addresses the need for research involving clinical, basic, behavioral, and social science disciplines. By defining and addressing the health and economic consequences of premature birth, this book will be of particular interest to health care professionals, public health officials, policy makers, professional associations and clinical, basic, behavioral, and social science researchers. |
| aneuploidy in fetus affecting management of mother: Perinatal Stem Cells Anthony Atala, Kyle J. Cetrulo, Rouzbeh R. Taghizadeh, Curtis L Cetrulo, Sean Murphy, 2018-06-14 Perinatal Stem Cells provides researchers and clinicians with a comprehensive description of the current clinical and pre-clinical applications of stem cells derived from perinatal sources, such as amniotic fluid, placenta and placental membranes, the umbilical cord and Wharton's jelly. It's compiled by leading experts in the field, offering readers detailed insights into sources of perinatal stem cells and their potential for disease treatment. Therapeutic applications of perinatal stem cells include the treatment of in utero and pregnancy related diseases, cardiac disease, liver disease, pulmonary disease, inflammatory diseases, for hematopoietic regeneration, and for neural protection after stroke or traumatic brain injury. In addition, the rapid advance in clinical translation and commercialization of perinatal stem cell therapies is highlighted in a section on Clinical and Industry Perspective which provides insight into the new opportunities and challenges involved in this novel and exciting industry. - Explores current clinical and pre-clinical application of stem cells derived from perinatal sources - Offers detailed insight into sources of perinatal stem cells and their potential for disease treatment - Discusses progress in the manufacturing, banking and clinical translation of perinatal stem cells - Edited by a world-renowned team to present a complete story of the development and promise of perinatal stem cells |
| aneuploidy in fetus affecting management of mother: Fetal Therapy Mark D. Kilby, Anthony Johnson, Dick Oepkes, 2013 Covers the latest insights any fetal specialist needs and provides essential knowledge for professionals caring for women with high-risk pregnancies. |
| aneuploidy in fetus affecting management of mother: Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling R. J. McKinlay Gardner, David J. Amor, 2018 Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the unexplainable, helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field. |
| aneuploidy in fetus affecting management of mother: Handbook of Clinical Obstetrics E. Albert Reece, MD, PhD, MBA, John C. Hobbins, 2008-04-15 The second edition of this quick reference handbook for obstetricians and gynecologists and primary care physicians is designed to complement the parent textbook Clinical Obstetrics: The Fetus & Mother The third edition of Clinical Obstetrics: The Fetus & Mother is unique in that it gives in-depth attention to the two patients – fetus and mother, with special coverage of each patient. Clinical Obstetrics thoroughly reviews the biology, pathology, and clinical management of disorders affecting both the fetus and the mother. Clinical Obstetrics: The Fetus & Mother - Handbook provides the practising physician with succinct, clinically focused information in an easily retrievable format that facilitates diagnosis, evaluation, and treatment. When you need fast answers to specific questions, you can turn with confidence to this streamlined, updated reference. |
| aneuploidy in fetus affecting management of mother: Neurological Diseases and Pregnancy Emma Ciafaloni, Loralei L. Thornburg, Cheryl D. Bushnell, 2018 For a woman of reproductive age, any medical appointment is a pre-conception visit and an opportunity to address pre-existing conditions that affect pregnancy and the maternal-fetal dyad. However, many neurologic conditions are rarely seen in pregnancy, and limited experience and knowledge may prevent the team from developing a shared approach to these complex conditions during pregnancy. Neurological Diseases and Pregnancy: A Coordinated Care Model for Best Management brings together experts across the disciplines of maternal fetal medicine, neurology, obstetrics, family planning, genetics, anesthesia, psychiatry, neurosurgery, and lactation to provide a multi-disciplinary, comprehensive, protocol-driven guide on best care for patients with neurologic disease before, during and after pregnancy. Each chapter provides a detailed care map on each unique disorder, and discusses the use of neurological medications during pregnancy and in lactation. Through this multi-disciplinary approach clinicians can navigate the complexities of preconception and pregnancy care, and help to optimize outcomes for the mother-infant dyad. Beyond pregnancy care, this volume further serves as a resource on best care for the life-course of women affected by neurologic disease including pre-pregnancy planning, genetic counseling, contraception, and sexuality in neurologic disease, as well as post-partum depression and menopausal neurologic changes. |
| aneuploidy in fetus affecting management of mother: Congenital Anomalies Stefania Tudorache, 2018-05-02 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. |
| aneuploidy in fetus affecting management of mother: Nutrition and Lifestyle for Pregnancy and Breastfeeding Peter D. Gluckman, Mark A. Hanson, Yap Seng Chong, Anne Bardsley, 2015 Explaining the practical implications of new discoveries in 'life-course biology', Nutrition and Lifestyle for Pregnancy and Breastfeeding is an informed resource on factors that affect offspring development. The impact of parental lifestyle and behavioural choices influence not only fetal development and birth outcomes, but also postnatal development, yet guidance on appropriate diet, behaviour, and exposures during pregnancy is often confusing and contradictory. With accessible explanations of the latest scientific research, and clear summaries and recommendations, this book is a valuable and authoritative guide for all levels of health care providers. The authors provide an overview of the background evidence, highlighting the importance of lifestyle choices prior to and during pregnancy. In-depth discussions of nutritional and lifestyle factors that impact on pregnancy and offspring outcomes are based on the latest research and exploration of key scientific studies. Nutrition and Lifestyle for Pregnancy and Breastfeeding is a manual offering both scientific and clinical evidence to empower health care providers and ensure they have the information necessary to confidently care for prospective and new parents. |
| aneuploidy in fetus affecting management of mother: Fetal Therapy Mark D. Kilby, Anthony Johnson, Dick Oepkes, 2020-01-02 Updated by a team of internationally renowned experts, this book gives a thorough overview of fetal pathophysiology and an evidence base for in utero: both medical (non-invasive) and surgical treatments. Many topics are expanded to cover recent advances, including: stem cell transplantation; tissue scaffolding; minimally invasive approaches to 'open fetal surgery'; the etiology, prevention and treatment of preterm birth and PROM; the genetic etiologies of fetal disease; and gene therapy. In addition, there are in-depth discussions as to the role of open fetal myelomeningocele repair and several fetoscopic approaches to therapy. The international editors have added important new chapters on reducing stillbirth and prenatal counselling. This book is an invaluable reference guide to the latest fetal therapy options, and an essential, in-depth study book for maternal-fetal and neonatology specialists. |
| aneuploidy in fetus affecting management of mother: Fetology: Diagnosis and Management of the Fetal Patient, Second Edition Diana W. Bianchi, Timothy M. Crombleholme, Mary E. D'Alton, Fergal Malone, 2010-05-14 The first book to synthesize relevant, critically reviewed data for application to the diagnosis and treatment of prenatal patients—updated and in full color A Doody's Core Title for 2011! 5 STAR DOODY'S REVIEW! The book is comprehensive, concise, well illustrated, and an extremely valuable resource for perinatal healthcare providers....This book has rapidly become a go-to reference in the perinatal field and this new edition confirms its place as the gold standard in the field. Perinatologists will find this to be an essential part of their library. As more obstetric practitioners do investigative sonographic procedures in their offices, this book will be a valuable resource for them as well. The new edition is overdue and most welcome.--Doody's Review Service This invaluable up-to-date reference is a must have guide especiallyin non-tertiary care centers where the various experts may not be readily available tofurther guide the family and plan the rest of the antepartum, peripartum and postpartum care.--Center for Advanced Fetal Care Newsletter Fetology: Diagnosis and Management of the Fetal Patient offers a cross-disciplinary approach that goes beyond the traditional boundaries of obstetrics, pediatrics, and surgery to help you effectively diagnose and treat fetal patients. Fetology considers the full implications of a fetal sonographic or chromosomal diagnosis—from prenatal management to long-term outcome—for an affected child. Here, you’ll find all the insights you need to answer the questions of parents faced with a diagnosis of a fetal abnormality—and present them with a coordinated therapeutic plan. Features NEW! Full-color design NEW! Five new chapters on Adrenal Masses, Abdominal Cysts, Overgrowth, Mosaic Trisomy, and DiGeorge Syndrome NEW! Chapters summarizing contemporary approaches to first and second trimester screening for aneuploidy NEW! 3D ultrasound and MRI images: over 450 images clearly illustrate the diagnosis of anomalies with the latest, most precise imaging technology NEW! Key Points open each chapter, providing rapid review of a particular condition Highlighted treatment/management guidelines deliver quick access to practical, what-to-do information Each chapter, which covers a single anomaly, includes description of the medical condition, incidence, characteristic sonographic findings, differential diagnosis, best treatment during pregnancy, treatment of the newborn, expected outcome, and more Addresses gaps in our knowledge that highlight unmet clinical needs and areas for future research |
| aneuploidy in fetus affecting management of mother: Guidelines for Perinatal Care American Academy of Pediatrics, American College of Obstetricians and Gynecologists, 1997 This guide has been developed jointly by the American Academy of Pediatrics and the American College of Obstetricians and Gynecologists, and is designed for use by all personnel involved in the care of pregnant women, their foetuses, and their neonates. |
| aneuploidy in fetus affecting management of mother: Smith's Recognizable Patterns of Human Malformation Kenneth Lyons Jones, 1997 This user-friendly 5th Edition provides concise but complete information on numerous common and rare disorders that cause human malformation. Includes an outline of the salient features of each condition, as well as material on natural history, etiology, and pathogenesis. The text is accompanied by helpful illustrations and reference lists. Organized to allow for easy access to essential information. |
| aneuploidy in fetus affecting management of mother: Placental Bed Disorders Robert Pijnenborg, Ivo Brosens, Roberto Romero, 2010-06-03 It is now recognized that defective placentation in the human is a cause of many pregnancy complications, such as spontaneous abortion, preterm labor and delivery, pre-eclampsia, intrauterine growth restriction, fetal death and abruptio placenta. These clinical disorders can often have long-term consequences into adulthood, causing cardiovascular disease, obesity and diabetes for the newborn as well as an increased risk of premature death in the mother. This is the first book to be entirely focused on the placental bed, bringing together the results of basic and clinical research in cell biology, immunology, endocrinology, pathology, genetics and imaging to consolidate in a single, informative source for investigators and clinicians. Its core aim is to explore new approaches and improve current clinical practice. This is essential reading for clinicians in obstetric, cardiovascular and reproductive medicine. |
| aneuploidy in fetus affecting management of mother: Human Reproductive and Prenatal Genetics Peter C.K. Leung, Jie Qiao, 2023-03-22 **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 |
| aneuploidy in fetus affecting management of mother: Embryo and Fetal Pathology Enid Gilbert-Barness, Diane Debich-Spicer, 2004-05-31 Exhaustively illustrated in color with over 1000 photographs, figures, histopathology slides, and sonographs, this uniquely authoritative atlas provides the clinician with a visual guide to diagnosing congenital anomalies, both common and rare, in every organ system in the human fetus. It covers the full range of embryo and fetal pathology, from point of death, autopsy and ultrasound, through specific syndromes, intrauterine problems, organ and system defects to multiple births and conjoined twins. Gross pathologic findings are correlated with sonographic features in order that the reader may confirm visually the diagnosis of congenital abnormalities for all organ systems. Obstetricians, perinatologists, neonatologists, geneticists, anatomic pathologists, and all practitioners of maternal-fetal medicine will find this atlas an invaluable resource. |
| aneuploidy in fetus affecting management of mother: The Mohicans of Paris Alexandre Dumas, 2001-02 This Elibron Classics title is a reprint of the original edition published by George Routledge and Sons, , London and New York |
| aneuploidy in fetus affecting management of mother: Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies Sorin Hostiuc, 2018-08-07 Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies offers thorough discussions on preconception carrier screening, genetic engineering and the use of CRISPR gene editing, mitochondrial gene replacement therapy, sex selection, predictive testing, secondary findings, embryo reduction and the moral status of the embryo, genetic enhancement, and the sharing of genetic data. Chapter contributions from leading bioethicists and clinicians encourage a global, holistic perspective on applied challenges and the moral questions relating the implementation of genetic reproductive technology. The book is an ideal resource for practitioners, regulators, lawmakers, clinical researchers, genetic counselors and graduate and medical students. As the Human Genome Project has triggered a technological revolution that has influenced nearly every field of medicine, including reproductive medicine, obstetrics, gynecology, andrology, prenatal genetic testing, and gene therapy, this book presents a timely resource. - Provides practical analysis of the ethical issues raised by cutting-edge techniques and recent advances in prenatal and reproductive genetics - Contains contributions from leading bioethicists and clinicians who offer a global, holistic perspective on applied challenges and moral questions relating to genetic and genomic reproductive technology - Discusses preconception carrier screening, genetic engineering and the use of CRISPR gene editing, mitochondrial gene replacement therapy, ethical issues, and more |
| aneuploidy in fetus affecting management of mother: What Mothers Say Sharon Bartholomew, 2009 |
| aneuploidy in fetus affecting management of mother: SILENT RISK Jason H. Collins, MD, MSCR, 2013-10 With an estimated 8,000 deaths per year in the United States from complications of UCA, an initial goal of 50% reduction of loss is possible. To achieve this goal requires the recognition by the obstetrical community of the issue. Recent research into circadian rhythms may help explain why UCA stillbirth is an event between 2:00 a.m. and 4:00 a.m. Melatonin has been described as stimulating uterine contractions through the M2 receptor. Melatonin secretion from the pineal gland begins around 10:00 p.m. and peaks to 60 pg at 3:00 a.m. Serum levels decline to below 10 pg by 6:00 a.m. Uterine stimulation intensifies during maternal sleep, which can be overwhelming to a compromised fetus, especially one experiencing intermittent umbilical cord compression due to UCA. It is now time for the focus to be on screening for UCA, managing UCA prenatally, and delivery of the baby in distress defined by the American College of Obstetricians and Gynecologists as a heart rate of 90 beats per minute for 1 minute on a recorded nonstress test. The ability of ultrasound and magnetic resonance imaging (MRI) to visualize UCA is well documented. The 18 20 week ultrasound review should include the umbilical cord, its characteristics, and description of its placental and fetal attachment. The American Association of Ultrasound Technologists has defined these parameters for umbilical cord abnormalities: B.1.4 Abnormal insertion B.1.5 Vasa previa B.1.6 Abnormal composition B.1.7 Cysts, hematomas, and masses B.1.8 Umbilical cord thrombosis B.1.9 Coiling, collapse, knotting, and prolapse B.1.10 Umbilical cord evaluation with sonography includes the appearance, composition, location, and size of the cord Cord Events: Although many stillbirths are attributed to a cord accident, this diagnosis should be made with caution. Cord abnormalities, including a Nuchal Cord, are found in approximately 30% of normal births and may be an incidental finding. (American College of Obstetrics and Gynecology Practice Bulletin 2009) According to NICHD's recent stillbirth study, UCA is a significant cause of mortality (10%). This finding is in agreement with other international UCA studies. (Bukowski et al. 2011) These histologic criteria identify cases of cord accident as a cause of stillbirth with very high specificity. (Dilated fetal vessels, thrombosis in fetal vessels, avascular placental villi.) (Pediatr Dev Pathol 2012) Finally, defining the morbidity (injury) of cord compression, such as fetal neurologic injury or heart injury identified with umbilical cord blood troponin T levels or pulmonary injury, is the next major area of investigation. |
| aneuploidy in fetus affecting management of mother: Perinatal Palliative Care Erin M. Denney-Koelsch, Denise Côté-Arsenault, 2020-02-05 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. |
| aneuploidy in fetus affecting management of mother: American Academy of Pediatrics Textbook of Pediatric Care Jane Meschan Foy, 2016-03-31 The definitive manual of pediatric medicine - completely updated with 75 new chapters and e-book access. |
| aneuploidy in fetus affecting management of mother: Chromosome Abnormalities and Genetic Counseling R.J. MKinlay Gardner, Grant R Sutherland, Lisa G. Shaffer, 2012 Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families. |
| aneuploidy in fetus affecting management of mother: Genetic Steroid Disorders Maria I. New, Bert O'Malley, Gary D. Hammer, Oksana Lekarev, Alan Parsa, Tony T. Yuen, Mone Zaidi, Ahmed Khattab, Anne MacDonald, 2023-06-14 Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on Gonadotropins, Obesity and Bone and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library! - Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work - Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles - Highlights significant discoveries with clinical relevance, presenting insight into which medications to use based on the genetic makeup of a patient - Teaches the best strategies and most effective use of genetic information in the patient counseling setting |
| aneuploidy in fetus affecting management of mother: Thompson & Thompson Genetics in Medicine Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard, 2015-08-16 Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in Medicine returns as one of the most favored texts in this fascinating and rapidly evolving field. By integrating the classic principles of human genetics with modern molecular genetics, this medical reference book utilizes a variety of learning tools to help you understand a wide range of genetic disorders. Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. |
| aneuploidy in fetus affecting management of mother: OBSTETRICS , 2016 |
| aneuploidy in fetus affecting management of mother: Klinefelter’s Syndrome Andrea Garolla, Giovanni Corona, 2020-08-31 This book presents the latest insights into all the critical aspects of Klinefelter’s Syndrome, in order to promote a more homogeneous a medical approach to this condition, leading to better and more “evidence-based” support, and improving patient satisfaction. It offers physicians and all health professionals involved in treating these patients (andrologists, pediatricians, endocrinologists, psychologists) a comprehensive overview and a useful tool for their daily clinical practice. |
| aneuploidy in fetus affecting management of mother: Prenatal Testing for Late-onset Neurogenetic Diseases G Evers-Kiebooms, Peter Harper, MW Zoeteweij, 2003-12-16 This book addresses the biological, moral and legal issues which arising prenatal testing of late onset neurogenetic disease. The contributors focus specifically on Huntington's Disease, which is used as a model for other late onset neurogenetic diseases. The ethical and legal aspects of prenatal testing and preimplantation genetic diagnosis are discussed with reference to case histories. This volume will provide valuable insights for all those involved in dealing with these challenging issues. |
| aneuploidy in fetus affecting management of mother: Prenatal Testing and Disability Rights Erik Parens, Adrienne Asch, 2000-09-28 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. |
| aneuploidy in fetus affecting management of mother: First-Trimester Ultrasound Jacques S. Abramowicz, 2015-08-24 This book offers a unique and focused study of the use of ultrasound during the first trimester, a critical time in a fetus’ development. It includes basic examination guidelines as well as cutting-edge ultrasound modalities, including Doppler and three-dimensional ultrasound, for the period immediately preceding conception through early embryology. Beginning with a discussion of the safety and efficacy of diagnostic ultrasound and the use of this modality for the evaluation and treatment of infertility, recognized experts in the field explore conditions that may interfere with normal conception or development, including maternal diseases that would benefit from early scanning, elements of teratology, multiple gestations, ectopic pregnancy, gestational trophoblastic disease, fetal anomalies and invasive procedures in the first trimester. Numerous illustrations and figures are provided to serve as aids for understanding key concepts. First-Trimester Ultrasound is a valuable resource for many, in or after training, in obstetrics and gynecology, radiology, emergency medicine, family medicine and genetics. |
| aneuploidy in fetus affecting management of mother: Subfertility, Reproductive Endocrinology and Assisted Reproduction Jane A. Stewart, 2019-06-20 Reproductive medicine and surgery is a major subspecialty in the practice of obstetrics and gynaecology. This textbook provides an introduction to the field of subfertility and reproductive endocrinology, with contributions written by leading experts in the field. This book is based on and compliments a training programme run jointly by the British Fertility Society and the Royal College of Obstetricians and Gynaecologists, making it an indispensable handbook for medical trainees. It will also appeal to clinicians embarking on a career in obstetrics and gynaecology who want an excellent grounding in this area. Specialist nurses will also find the book a valuable resource, and scientists specialising in reproductive medicine and embryology will gain insight into the related clinical areas. |
| aneuploidy in fetus affecting management of mother: Fetal Anomalies Max Maizels, Bettina F. Cuneo, Rudy E. Sabbagha, 2002 FETAL ANOMALIES Advances in ultrasound technology are reshaping the field of health care for obstetricians and pediatric specialists. Detailed fetal imaging has enabled medical professionals to detect fetal structural anomalies and research practical guidelines for prenatal diagnosis and postnatal management. Fetal Anomalies: Ultrasound Diagnosis and Postnatal Management is a practical sourcebook with images of structural fetal malformations on a continuum that begins at the stage of ultrasonographic identification, progressing to characterization in the newborn period, and culminating in repair and postoperative follow up. This comprehensive text correlates pre- and post-natal images with the type of treatment appropriate to structural anomalies of the different organ systems. Numerous examples from each organ system are included and the material is clinically oriented. Fetal Anomalies: Ultrasound Diagnosis and Postnatal Management reviews such topics as: Externally visible defects Skeletal dysplasia Central nervous, gastrointestinal, urinary, and genital systems Umbilical cord anomalies Abnormalities specific to multiple pregnancies Abnormalities of amniotic fluid volume Abnormalities that elude prenatal detection Incorporating the pictorial strengths of an atlas with the didactic utility of a reference work, Fetal Anomalies: Ultrasound Diagnosis and Postnatal Management is a unique book bridging various specialties that comprise maternal-fetal medicine, such as obstetrics, diagnostic imaging, neonatology, perinatology, surgery, and urology. |
| aneuploidy in fetus affecting management of mother: Handbook of DNA Profiling Hirak Ranjan Dash, Pankaj Shrivastava, J. A. Lorente, 2022-06-29 This reference book comprehensively reviews the significance of DNA technology in forensic science. After presenting the theory, basic principles, tools and techniques that are used in forensic DNA typing, it summarizes various techniques, including autosomal STR, Y-STR, X-STR, mitochondrial DNA and NGS, used in solving both criminal as and civil cases, such as paternity disputes, identification of mutilated remains, and culprit identification in sexual assault and murder cases. It also provides an overview of DNA-based genetic diagnostics for various diseases, and discusses the role of DNA typing in drug reactions, as well as the application of non-human DNA profiling of animals and plants in forensic science investigations. Lastly, the book examines the role of internal quality control in maintaining the high quality of DNA profiling. |
Aneuploidy: Genetic Disorder Causes & Types - Cleveland Clinic
Aneuploidy and polyploidy are both genetic disorders that refer to a change in the number of chromosomes in your baby’s DNA. The difference between the two conditions is that …
Aneuploidy - Wikipedia
Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human somatic cell having 45 or 47 chromosomes instead of the usual 46. [ 1 ] [ 2 ] It does not …
Aneuploidy: What Is It, Causes, Diagnosis, and More | Osmosis
Feb 4, 2025 · Aneuploidy happens when an individual has an extra chromosome in a cell, resulting in 45 chromosomes. When one member is missing, it is called monosomy, whereas if …
Aneuploidy in health, disease, and aging - PMC
Aneuploidy, an aberrant number of chromosomes, has been recognized as a feature of human malignancies for over a century, but compelling evidence for causality was largely lacking until …
Fetal Aneuploidy: Screening and Diagnostic Testing - AAFP
Apr 15, 2020 · Aneuploidy is the presence of one or more extra chromosomes or the absence of one or more chromosomes. The risk of fetal aneuploidy rises with increasing maternal age.
Chromosomal Abnormalities: Aneuploidies | Learn Science at …
This condition, known as aneuploidy, disrupts the delicate molecular equilibrium in cells, such that only a few aneuploid conditions are compatible with life.
Aneuploidy - Causes, Symptoms, Diagnosis, and Treatment
Apr 25, 2025 · Aneuploidy is a complex genetic condition that can significantly impact health and development. Understanding its causes, symptoms, diagnosis, treatment options, and …
Aneuploidy - National Human Genome Research Institute
6 days ago · Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. In humans, aneuploidy would be any number of chromosomes other than the …
Aneuploidy: Causes, Symptoms, and Diagnosis - Medicover …
What is Aneuploidy? Aneuploidy refers to the presence of an abnormal number of chromosomes in a cell. Instead of the typical 46 chromosomes, a person with aneuploidy might have 45, 47, …
Human aneuploidy: mechanisms and new insights into an age …
As discussed below, advances in preimplantation genetic diagnosis in ART provide powerful new approaches to the study of aneuploidy , allowing us to re-examine the levels of aneuploidy in …
Aneuploidy: Genetic Disorder Causes & Types - Cleveland Clinic
Aneuploidy and polyploidy are both genetic disorders that refer to a change in the number of chromosomes in your baby’s DNA. The difference between the two conditions is that …
Aneuploidy - Wikipedia
Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human somatic cell having 45 or 47 chromosomes instead of the usual 46. [ 1 ] [ 2 ] It does not …
Aneuploidy: What Is It, Causes, Diagnosis, and More | Osmosis
Feb 4, 2025 · Aneuploidy happens when an individual has an extra chromosome in a cell, resulting in 45 chromosomes. When one member is missing, it is called monosomy, whereas if …
Aneuploidy in health, disease, and aging - PMC
Aneuploidy, an aberrant number of chromosomes, has been recognized as a feature of human malignancies for over a century, but compelling evidence for causality was largely lacking until …
Fetal Aneuploidy: Screening and Diagnostic Testing - AAFP
Apr 15, 2020 · Aneuploidy is the presence of one or more extra chromosomes or the absence of one or more chromosomes. The risk of fetal aneuploidy rises with increasing maternal age.
Chromosomal Abnormalities: Aneuploidies | Learn Science at …
This condition, known as aneuploidy, disrupts the delicate molecular equilibrium in cells, such that only a few aneuploid conditions are compatible with life.
Aneuploidy - Causes, Symptoms, Diagnosis, and Treatment
Apr 25, 2025 · Aneuploidy is a complex genetic condition that can significantly impact health and development. Understanding its causes, symptoms, diagnosis, treatment options, and …
Aneuploidy - National Human Genome Research Institute
6 days ago · Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. In humans, aneuploidy would be any number of chromosomes other than the …
Aneuploidy: Causes, Symptoms, and Diagnosis - Medicover …
What is Aneuploidy? Aneuploidy refers to the presence of an abnormal number of chromosomes in a cell. Instead of the typical 46 chromosomes, a person with aneuploidy might have 45, 47, …
Human aneuploidy: mechanisms and new insights into an age …
As discussed below, advances in preimplantation genetic diagnosis in ART provide powerful new approaches to the study of aneuploidy , allowing us to re-examine the levels of aneuploidy in …
