Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by John Wiley & Sons. This book was released on 2011-09-07 with total page 1494 pages. Available in PDF, EPUB and Kindle. Book excerpt: Highly Commended in the Obstetrics and Gynaecology category of the 2010 BMA Medical Book Competition Brand new edition of the world's leading text on prenatal diagnosis This 6th Edition of Genetic Disorders and the Fetus maintains it's pre-eminence as the major repository of facts about prenatal diagnosis. It provides a critical analysis and synthesis of established and new knowledge based on the long experience of authorities in their respective fields. A broad international perspective is presented through authoritative contributions from authors in 11 countries. All chapters and guidelines have been updated to reflect contemporary practice. New chapters have been introduced on: The use of chromosomal microarrays in prenatal diagnosis The social, legal and public policy issues with special reference to international approaches The important peroxisomal and related fatty acid oxidation disorders Extensive tables and clear illustrations assist in differential diagnosis, gene identification and diagnostic modes. The recognition of many new and unresolved challenges should provide inspiration for novel research initiatives. The guidance provided and the insights and perspectives of these authors make this volume a valuable and indispensable resource for all whose focus is securing fetal health through prenatal diagnosis. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment is an essential resource for all engaged in prenatal genetic diagnosis, especially obstetricians, maternal-fetal medicine specialists, medical geneticists, genetic counsellors, and pediatricians, but also many other specialties.
Download or read book Genetic Disorders Syndromology and Prenatal Diagnosis written by T.V.N. Persaud and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 257 pages. Available in PDF, EPUB and Kindle. Book excerpt: Birth defects have assumed an importance even greater now than in the past because infant mortality rates attributed to congenital anomalies have declined far less than those for other causes of death, such as infectious and nutritional diseases. As many as 50 % of all pregnancies terminate as miscarriages, and in the majority of cases this is the result of faulty intrauterine development. Major congenital malformations are present in at least 2 % of all liveborn infants, and 22 % of all stillbirths and infant deaths are associated with severe congenital anomalies. Not surprisingly, there has been a great proliferation of research into the problems of developmental abnormalities over the past few decades. This series, Advances in the Study of Birth Defects, was conceived in order to provide a comprehensive focal source of up-to-date information for physi cians concerned with the health of the unborn child and for research workers in the fields of fetal medicine and birth defects. The first four volumes featured recent experimental work on selected areas of high priority and intensive investigation, including mechanisms of teratogenesis, teratological evaluation, molecular and cellular aspects of abnormal development, and neural and behavioural teratology. It seems logical and timely that the clinical aspects should now be presented. Accordingly, leading experts were invited to review a broad range of common problems from the standpoint of embryology, aetiology, clinical manifestations, diagnosis and management. This volume deals with genetic disorders and prenatal diagnosis.
Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by John Wiley & Sons. This book was released on 2015-09-21 with total page 1216 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book The Encyclopedia of Genetic Disorders and Birth Defects written by James Wynbrandt and published by Infobase Publishing. This book was released on 2010-05-12 with total page 705 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents information on congenital birth defects, giving the name, known or suspect cause and brief description as well as available treatments where applicable.
Download or read book Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders written by Fan Jin and published by Frontiers Media SA. This book was released on 2020-06-22 with total page 117 pages. Available in PDF, EPUB and Kindle. Book excerpt: Birth defects are one of the major public health concerns in the world, as they cause approximately 20% of infant deaths. Genetic disorders, including chromosome abnormalities and single gene disorders, are the most common causes of birth defects for which there is no efficient treatment. Prenatal genetic screening and diagnosis allow early identification of affected conceptuses and facilitates reproduction planning or counseling. Molecular technologies have developed rapidly in recent years and have been widely used in screening and diagnosis of genetic disorders at all stages of prenatal development (e.g. pre-implantation, embryonic and fetal). However, their performance still needs to be validated and assessed as the balance between their advantages and disadvantages need to be discussed. With the ability to detect copy number variations (CNVs), polyploidy, uniparental disomy and maternal cell contamination, SNP-based chromosomal microarray analysis (CMA) is showing the unique importance in diagnosing chromosomal abnormalities. The interpretation of CNVs remains a challenge; however, ultrasound and biochemical screening improve the diagnosis of fetal chromosomal abnormalities. Whole exome sequencing (WES) and whole genome sequencing (WGS) play increasingly significant roles in prenatal and carrier screening for genetic disorders. NGS-based non-invasive prenatal screening (NIPS) is now widely used for detecting common autosomal aneuploidies and has shown the potential of detecting microdeletions and microduplications. However, further investigations of the sensitivity and accuracy are required and large-scale data is necessary to evaluate the performance and clinical applications of current and new methods. Recently, reports of application of newer technologies in prenatal setting became available. Examples include third generation sequencing (reading the nucleotide sequences at the single molecule level), digital PCR (used for direct quantification of DNA) and cell-based NIPT. In the followed listed papers, the authors showed their successful experiences in identifying novel mutation, detecting low-level mosaicism or de novo mutations limited in germline cells, investigating the association of the CNVs with specific phenotypic alterations by using WES, CMA, digital PCR and some other new-developed molecular techniques. More interesting, the authors also presented a report about the evaluation of diagnostic yield in fetal WES, which suggested a new tendency to apply WES or WGS directly for prenatal diagnosis. We believed that the efficiency of scanning causative mutations and prenatal or preimplantion genetic diagnosis for genetic disorders will further improved based on the technologies of whole genomic sequencing with further improved output and resolution. New techniques, such as quick-WES for the newborn in intensive care unit, direct-WGS for prenatal diagnosis and non-invasive test for fetal monogenic disorders, will become available in the near future.
Download or read book Before Birth written by Elena O. Nightingale and published by Harvard University Press. This book was released on 1990 with total page 144 pages. Available in PDF, EPUB and Kindle. Book excerpt: 'An extremely informative, well-written and amply diagrammed book, which should be of great value to laypersons and their physicians who require further genetic review and background for present and future gene therapies.' - Theodore Kushnick, M.D., Journal of the American Medical Association.
Download or read book Perinatal Genetics written by Mary E Norton and published by Elsevier Health Sciences. This book was released on 2019-01-23 with total page 350 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Advances in the Study of Birth Defects Volume 5 Genetic Disorders Syndromology and Prenatal Diagnosis written by TVN Persaud (Ed) and published by . This book was released on 1982 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Clinical Genetics written by Ann M. Willey and published by Academic Press. This book was released on 2014-04-24 with total page 291 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Genetics: Problems in Diagnosis and Counseling presents the proceedings of the Twelfth Annual New York State Health Department Birth Defects Symposium. The book provides practical information applicable to counseling situations for selected diagnoses and a summary of the limitations of diagnosis and counseling for genetic disorders. The text contains chapters devoted to the description of restriction enzyme site detection and prenatal diagnosis of hemoglobinopathy; counseling for mental retardation of unknown etiology, for idiopathic dysmorphic syndromes, and for psychiatric disorders; interpretation of prenatal cytogenetic diagnosis; preconceptual vitamin supplementation; and cystic fibrosis. Geneticists, clinicians, and physicians will find the book insightful.
Download or read book Prenatal Testing for Late onset Neurogenetic Diseases written by G Evers-Kiebooms and published by CRC Press. This book was released on 2003-12-16 with total page 242 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genetic Diseases And Development Disabilities Aspects Of Detection And Prevention written by Tamah L Sadick and published by Routledge. This book was released on 2019-05-20 with total page 154 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in medical genetics during the past two decades have made possible the detection and prevention of many genetic disorders and developmental disabilities. The emphasis of this book is on the application of these new developments to real-life situations. Covering homozygote newborn screening, heterozygote detection in the community, and pren
Download or read book Prenatal Diagnostic Testing for Genetic Disorders written by Gian Carlo Di Renzo and published by Springer Nature. This book was released on 2023-07-21 with total page 455 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive volume covers all aspects of the revolution in prenatal diagnosis brought about by the introduction of non-invasive prenatal testing (NIPT), which primarily relies on the detection of free fetal DNA circulating in maternal blood from the early stages of pregnancy. The book explores the potential of NIPT to provide full genome screening of the fetus and identify many common or rare disorders. The counseling process, as well as the limitations and pitfalls of various techniques used to perform NIPT, are described, evaluated, and critically discussed by renowned international experts. The book also compares the new technology with more conventional tests, preimplantation diagnosis, and the invasive procedures currently in use. This book will be a valuable resource for gynecologists, obstetricians, geneticists, maternal-fetal medicine specialists, pathologists, neonatologists, reproductive medicine specialists, midwives, and anyone interested in prenatal genetic diagnosis.
Download or read book Atlas of Genetic Diagnosis and Counseling written by Harold Chen and published by Springer. This book was released on 2012-02-17 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dr. Chen shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of almost 250 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. The Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes and better evaluate, counsel, and manage affected patients. In this new edition, 47 additional genetic disorders are added, as well as extensive updates made to the previous disorders. New illustrations, as previous edition, will be supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation.
Download or read book Prenatal Diagnosis written by Jan-Diether Murken and published by . This book was released on 1979 with total page 420 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Practical Preimplantation Genetic Diagnosis written by Anver Kuliev and published by Springer Science & Business Media. This book was released on 2012-08-16 with total page 317 pages. Available in PDF, EPUB and Kindle. Book excerpt: Although treatment remains the major goal in the control of genetic disease, this is not yet a reality for most inherited conditions. In the absence of radical treatment, preimplantation genetic diagnosis (PGD) offers the answer to the control of these inherited conditions by predicting reproductive outcome. PGD is now entering its third decade as an established procedure for genetic and assisted reproduction practices, with new and exciting developments changing the whole concept of prevention of congenital disorders. The availability of practical experience from tens of thousands of PGD cases makes it necessary to update the current information on its accuracy, reliability and safety. The Second Edition of this successful book updates the progress in prevention of genetic disorders to demonstrate the important place of PGD in primary preventive measures and its increasing role in providing the whole range of reproduction options to couples at risk. In addition, it provides an extensive review of the most recent developments within the field of PGD including, PGD for expanding indications such as de novo mutations, cancers, inherited cardiac diseases and combined PGD for single gene disorders, HLA typing and 24 chromosome testing in patients of advance reproductive age. This practical book is vital for all practitioners within the field of fertility, reproductive medicine and medical genetics. It will also be useful for those responsible for planning and organizing PGD services and provides a working manual for the establishment and performance of PGD in the framework of IVF and genetic practices.
Download or read book Guide for Genetic Consultation written by Birgit Zirn and published by Springer. This book was released on 2019-04-24 with total page 187 pages. Available in PDF, EPUB and Kindle. Book excerpt: Supported by figures, tables and photos, this book illustrates the basics of genetic diagnostics, prenatal and reproductive medicine, syndromology and familial cancers. It also includes numerous illustrated examples of the most frequent genetic diseases, making it a valuable resource in genetic counselling. This book is an essential tool for genetic counsellors, paediatricians, gynaecologists and all healthcare professionals who explain genetic issues to their patients. Useful also for teaching students.
Download or read book Risk Age and Pregnancy written by B. Heyman and published by Springer. This book was released on 2001-03-13 with total page 253 pages. Available in PDF, EPUB and Kindle. Book excerpt: Risk, Age and Pregnancy provides an in-depth case study of the operation of a prenatal genetic screening and testing system. The methodology integrates observational, qualitative interview and survey data. The perspectives of pregnant women, hospital doctors and midwives are explored in depth, as is the communication between women and the hospital doctors who advise them. The book offers insights which are relevant to those concerned with the rapidly growing field of genetic risk management.
