Aubrey Milunsky – Författare

New advances in genetics have dramatically expanded our ability to avoid, prevent, diagnose, and treat a wide range of disorders. Now, more than ever, families need to know about these new discoveries, especially as there are some 7,000 rare genetic diseases that afflict about 1 in 12 of us. In Your Genes, Your Health, Aubrey Milunsky provides an invaluable and authoritative guide to what you should know about your genes. Illustrated with poignant family histories that underscore the lifesaving importance of knowing one's family medical history and ethnic origin, the book highlights the importance of recognizing seemingly unrelated disorders in a family as due to the same gene mutation and it outlines the key genetic tests needed for diagnosis, detection of carriers, and prenatal diagnosis. Many genetic disorders are discussed including cancer, heart disease, autism, mental illness, birth defects, neurologic disorders, diabetes, obesity and much more. The message of this book is clear--know your family history, be cognizant of your ethnic origins, seek appropriate consultations, and opt for meaningful genetic tests. Recognition of your risk(s) enables prompt preemptive action. By knowing your genes, you may save your life and the lives of those you love.

Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief.The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis. The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.

Explore the latest edition of the definitive resource on prenatal genetic diagnosis In the newly revised eighth edition of Genetic Disorders and the Fetus, authors and acclaimed medical doctors, Aubrey and Jeff Milunsky, deliver a thorough and comprehensive reference perfect for academicians, students in post-graduate specialization courses, and working medical professionals. This book incorporates the knowledge, wisdom, perspectives, and recommendations from a renowned team of contributing authors, drawing upon their extensive experience in prenatal genetic diagnosis to present the definitive reference work used routinely around the world. In addition to fundamental information on established prenatal diagnosis and exhaustively referenced coverage of new techniques, you’ll find new chapters on preconception genetic counselling, preimplantation genetic diagnosis, advances in fetal imaging, and gene therapy. Genetic Disorders and the Fetus is authored by a global team of internationally recognized contributors, all of whom are leading voices in the field  The eighth edition also contains:  A thorough discussion of the public policy and ethics of embryo editing, including mitochondrial replacement treatment, and gene patents, prenatal diagnosis, and polygenic disease risk prediction An exploration of preimplantation genetic diagnosis, pharmacogenetics and prenatal diagnosis, and whole genome sequencing A treatment of genetic disorders and pharmacologic therapy, including spinal muscular atrophy and fragile X syndrome A discussion of legal issues, including the fetus as plaintiff and the increasing liability of physicians due to advances in genetics Perfect for obstetricians, clinical geneticists, molecular and biochemical geneticists, and pediatricians, Genetic Disorders and the Fetus will also earn a place in the libraries of neonatologists, genetics counsellors, ethicists, radiologists, and professionals working in public policy and health departments.

For over 20 years I have accepted the challenge and had the privilege of caring for sick children, agonizing with their parents during periods of serious illness, which were sometimes fatal. Because of my particular interest in and concern about birth defects and genetic disease, many of these children had severe disabling handicaps, which were often genetic and included mental retardation. Hence care of these children and their families was often complicated by the presence of serious or profound genetic defects. The initial realization of the nature of the disorder invariably led to emotional . difficulties and inevitably later spawned chronic distress. For some children inexorable deterioration led to untimely deaths, while the parents agonized over their handi­ capped, chronically ill, or defective-but nevertheless loved---

The state of health care is reflected by perinatal and neonatal morbidity and mortality as well as by the frequencies of long-term neurologic and developmental disorders. Many factors, some without immediately rec­ ognizable significance to childbearing and many still unknown, undoubt­ edly contribute beneficially or adversely to the outcome of pregnancy. Knowledge concerning the impact of such factors on the fetus and sur­ viving infant is critical. Confounding analyses of pregnancy outcome, especially these past two or three decades, are the effects of newly un­ dertaken invasive or inactive therapeutic approaches coupled with the advent of high technology. Many innovations have been introduced with­ out serious efforts to evaluate their impact prospectively and objectively. The consequences of therapeutic misadventures characterized the past; it seems they have been replaced to a degree by some of the complications of applied technology. Examples abound: after overuse of oxygen was recognized to cause retrolental fibroplasia, its restriction led to an in­ crease in both neonatal death rates and neurologic damage in surviving infants. Administration of vitamin K to prevent neonatal hemorrhagic disease, particularly when given in what we now know as excessive dos­ age, occasionally resulted in kernicterus. Prophylactic sulfonamide use had a similar end result. More recent is the observation of bronchopul­ monary dysplasia as a complication of respirator therapy for hyaline membrane disease.

Society has historically not taken a benign view of genetic disease. Sickle cell anemia, hemophilia, Cooley's anemia and Tay-Sachs disease have been among the front-runners for support. The bill, termed the National Genetic Diseases Act is, however, still far from being enacted.

Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de­ manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor­ tunities presented by prenatal diagnosis. Hence an extensive thorough reex­ amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu­ nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.

The state of health care is reflected by perinatal and neonatal morbidity and mortality as well as by the frequencies of long-term neurological and developmental disorders. Many factors, some without immediately recognizable significance to childbearing and many still unknown, undoubtedly contribute beneficially or adversely to the outcome of pregnancy. Knowledge concerning the impact of such factors on the fetus and surviving infant is critical. Confounding analyses of pregnancy outcome, especially these past 2 or 3 decades, are the effects of newly undertaken invasive or inactive therapeutic approaches coupled with the advent of high technology. Many innovations have been introduced without serious efforts to evaluate their impact prospectively and objectively. The consequences of therapeutic misadventures character­ ized the past; it seems they have been replaced to a degree by some of the complications of applied technology. Examples abound: after overuse of oxygen was recognized to cause retrolental fibroplasia, its restriction led to an increase in both neonatal death rates and neurologic damage in surviving infants. Administration of vitamin K to prevent neonatal hemorrhagic disease, particularly when given in what we now know as excessive dosage, occasionally resulted in kernicterus. Prophy­ lactic sulfonamide use had a similar end result. More recent is the observation of bronchopulmonary dysplasia as a complication of re­ spirator therapy for hyaline membrane disease. The decade of the eighties opened with the all-time highest rate of cesarean section in the United States.

The state of health care is reflected by perinatal and neonatal morbidity and mortality as well as by the frequencies of long-term neurological and developmental disorders. Many factors, some without immediately recognizable significance to childbearing and many still unknown, undoubtedly contribute beneficially or adversely to the outcome of pregnancy. Knowledge concerning the impact of such factors on the fetus and surviving infant is critical. Confounding analyses of pregnancy outcome, especially these past 2 or 3 decades, are the effects of newly undertaken invasive or inactive therapeutic approaches coupled with the advent of high technology. Many innovations have been introduced without serious efforts to evaluate their impact prospectively and objectively. The consequences of therapeutic misadventures character­ ized the past; it seems they have been replaced to a degree by some of the complications of applied technology. Examples abound: after overuse of oxygen was recognized to cause retrolental fibroplasia, its restriction led to an increase in both neonatal death rates and neurologic damage in surviving infants. Administration of vitamin K to prevent neonatal hemorrhagic disease, particularly when given in what we now know as excessive dosage, occasionally resulted in kernicterus. Prophy­ lactic sulfonamide use had a similar end result. More recent is the observation of bronchopulmonary dysplasia as a complication of re­ spirator therapy for hyaline membrane disease. The decade of the eighties opened with the all-time highest rate of cesarean section in the United States.

It was the best of times, it was the worst of times, it was the age of wisdom, it was the age of foolishness, it was the epoch of belief, it was the epoch of incredulity, ... it was the spring of hope, it was the winter of despair. . . . -Charles Dickens, A Tale of Two Cities Dickens, of course, did not have the contemporary dilemmas of modern genetics in mind. Indeed, we need to remind ourselves how short the history of modern genetics really is. Recognition that genetic traits are carried by deoxyribonucleic acid (DNA) occurred only about 40 years ago. Knowledge of the three-dimensional structure of DNA is only about 30 years old. The correct number of human chromosomes was not deter­ mined until the mid-1950s, and Down syndrome was recognized only in 1959. It was not until in 1968 that the exact location of a gene was determined on an autosomal chromo­ some, and the study of genes, rather than their protein products, has been possible for barely a decade.

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.

The state of health care is reflected by perinatal and neonatal morbidity and mortality as well as by the frequencies of long-term neurologic and developmental disorders. Many factors, some"without immediately recognizable significance to childbearing and many still unknown, undoubtedly contribute beneficially or adversely to the outcome of pregnancy. Knowledge concerning the impact of such factors on the fetus and surviving infant is critical. Confounding analyses of pregnancy outcome, especially these past two or three decades, are the effects of newly undertaken invasive or inactive therapeutic approaches coupled with the advent of high technology. Many innovations have been intro­ duced without serious efforts to evaluate their impact prospectively and objectively. The consequences of therapeutic misadventures character­ ized the past; it seems they have been replaced to a degree by some of the complications of applied technology. Examples abound: after ov­ eruse of oxygen was recognized to cause retrolental fibroplasia, its restriction led to an increase in both neonatal death rates and neurologic damage in surviving infants. Administration of vitamin K to prevent neonatal hemorrhagic disease, particularly when given in what we now know as excessive dosage, occasionally resulted in kernicterus. Prophy­ lactic sulfonamide use had a similar end result. More recent is the observation of bronchopulmonary dysplasia as a complication of re­ spirator therapy for hyaline membrane disease. The decade of the eighties opened with the all-time highest rate of cesarean section in the United States.