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- 1 ressource en ligne (xv, 210 pages)

Conseil génétique ; Diagnostics prénatals

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

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- 1 ressource en ligne : illustrations (principalement en couleur)

Foetus - Physiologie ; Grossesse - Complications ; Grossesse - Aspect physiologique ; Diagnostics prénatals

" The definitive reference in the field for more than 35 years, Creasy and Resnik's Maternal-Fetal Medicine provides today's MFM practitioners with authoritative, comprehensive guidance on every aspect of this fast-changing field. The fully revised 9th Edition brings you up to date with the latest evidence-based guidelines and research as well as the fundamental scientific foundation needed for effective practice, helping you minimize complications and ensure the best possible outcomes for your patients. Renowned experts in obstetrics, gynecology, and perinatology provide valuable information in every area of complex obstetric care, highlighting the most commonly encountered anomalies and providing clear guidelines for obstetric and neonatal management. "-- Publisher

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Diagnostics prénatals ; Conseil génétique ; Foetus - Malformations

Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, and Lorraine Dugoff fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It's an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers.

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Autre titre : NIPT

Diagnostics prénatals

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.

Key Features:
• 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

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Imagerie pour le diagnostic - Méthodologie ; Foetus - Maladies ; Diagnostics prénatals

For more than 70 years, Caffey's Pediatric Diagnostic Imaging has been the comprehensive, go-to reference that radiologists have relied upon for dependable coverage of all aspects of pediatric imaging. In the 13th Edition, Dr. Brian Coley leads a team of experts to bring you up to date with today's practice standards in radiation effects and safety, as well as in head and neck, neurologic, thoracic, cardiac, gastrointestinal, genitourinary, and musculoskeletal pediatric imaging. This two-volume bestselling reference is a must-have resource for pediatric radiologists, general radiologists, pediatric subspecialists, pediatricians, hospitals, and more – anywhere clinicians need to ensure safe, effective, and up-to-date imaging of children.

New to this edition:
• Takes an updated, contemporary approach with more focused and consistently formatted content throughout. Clinical content includes Overview; Etiologies, Pathophysiology, and Clinical Presentation; Imaging, including pros and cons, costs, evidence-based data, findings, and differential diagnostic considerations; and Treatment, including follow-up.
• Features 8,500 high-quality images – 1,000 new or updated.
• Provides expanded coverage of advanced imaging and diagnostics, including genetics and fetal imaging, MRI and advanced MR techniques, low-dose CT, ultrasound, nuclear medicine, and molecular imaging, as well as the latest quality standards, evidence-based data, and practice guidelines.
• Features new Key Points boxes and more tables and flowcharts that make reference faster and easier.
• Focuses on safety, particularly in radiation dosing, as part of the Image Gently® campaign to improve pediatric imaging while limiting radiation exposure and unneeded studies.
• Expert Consult™ eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, and references from the book on a variety of devices.

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Malformations ; Foetus - Anomalies ; Diagnostics prénatals

Richly illustrated and comprehensive in scope, Obstetric Imaging, 2nd Edition, provides up-to-date, authoritative guidelines for more than 200 obstetric conditions and procedures, keeping you at the forefront of this fast-changing field. This highly regarded reference covers the extensive and ongoing advances in maternal and fetal imaging in a concise, newly streamlined format for quicker access to common and uncommon findings. Detailed, expert guidance, accompanied by superb, high-quality images, helps you make the most of new technologies and advances in obstetric imaging.

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- xvi, 596, e46 pages : ill.

Foetus - Maladies ; Monitorage foetal ; Diagnostics prénatals

Covering pertinent basic science and offering today's most authoritative guidance on clinical management, Fetal Medicine, 3rd Edition, is a must-have resource for obstetricians and other healthcare professionals involved in care of the fetus. An international team of expert contributors delivers the knowledge and background you need to effectively diagnose and treat fetal disorders – everything from prenatal screening and diagnostic tests to common and rare prenatal conditions, early pregnancy loss, ethical issues, and much more.

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- xii, 499 p. : ill.
Cote : WQ 209 G932e 2009

Échographie obstétricale ; Diagnostics prénatals ; Foetus - Échographie ; Embryon humain - Malformations

Présentation de l'échographie de dépistage et notamment du diagnostic précoce des malformations, des signes d'appel des anomalies chromosomiques, du Doppler utérin et foetal et de la biométrie foetale. Refonte des chapitres concernant les anomalies cranio-encéphaliques, les pathologies cervico-faciales et les pathologies de membres et des extrémités.

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