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This important new publication summarises the recent exciting advances in screening for Down's syndrome. It addresses important clinical questions such as: risk assessment, who to screen, when to screen, which techniques to use, and the organisation of screening programmes nationally and internationally. An international and authoritative team of authors has been invited to assess the latest developments in this rapidly advancing area. The volume provides a critical and much needed evaluation of the potential and limitations of new and established techniques for screening for Down's syndrome. It will serve as an essential source of information for all those involved in pre-natal diagnosis and the provision of obstetric care.
Practical, evidence-based guide to managing ART pregnancies, based on 30 years of clinical experience, including gynaecological, genetic and obstetric complications.
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.
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.
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.
Book description to come.
Handbook of Fetal Medicine provides a concise and practical guide to the modern management of normal pregnancy and the at-risk fetus. Comprehensive in scope, in an easy-to-use format, the book provides guidance on a wide range of conditions, best practice management strategies and treatment options in maternal-fetal medicine. Each system-based chapter has a brief introduction on embryology and discusses the key genetic developments and relevant developmental abnormalities. The book begins by addressing genetic disorders such as Down syndrome, and goes on to consider skeletal and bodily system abnormalities. All key management points are highlighted and data on long-term outcomes are provided. This book will appeal to maternal-fetal medicine specialists, subspecialty trainees, obstetricians and midwives as a useful practical reference tool in daily practice. It is particularly suitable for trainees in Obstetrics & Gynaecology preparing for the post graduate examinations.
This established text covers the full range of obstetric ultrasound examinations that a sonographer would be expected to perform in a general hospital or secondary referral setting, and is the only text that combines the practicalities of learning how to perform these examinations with the information needed to carry them out in a clinical setting. It encourages students to think about their practice and provides the sonographer with the necessary tools to provide a 'gold standard' service. - Explains the principles of grey scale ultrasound, Doppler ultrasound and instrumentation - Addresses problems from both practical and clinical viewpoints - Provides comparative images showing results of good and bad scanning techniques - Advises on how to communicate findings to a pregnant woman or gynaecological patient - Discusses both the normal and abnormal ultrasound appearances for each of the relevant anatomical areas together - Scope fully expanded to cover gynaecological ultrasound imaging including: - the physiological changes taking place during the menstrual cycle - the effects of exogenous hormones on the various ultrasound appearances during the menstrual cycle - the ultrasound appearances of common abnormalities of the uterus, ovaries and adnexae - the ultrasound assessment of an adnexal mass using a standardized approach - New images to reflect the improvements in imaging technology - New chapter on screening for Down's syndrome and Edwards' and Patau's syndromes in accordance with current national screening recommendations - New chapter on the medico-legal issues relevant to performing and reporting ultrasound examinations
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