Prenatal Diagnosis

Author : Brynn Levy
Publisher : Humana
ISBN 13 : 9781493988877
Total Pages : 0 pages
Book Rating : 4.75/5 ( download)

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Download or read book Prenatal Diagnosis written by Brynn Levy and published by Humana. This book was released on 2018-12-01 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition volume expands on the first edition with more detailed methodologies on prenatal testing and diagnosis, and also covers next-generation sequencing techniques. The chapters in this book are divided into three sections: preimplantation genetic testing, traditional prenatal testing, and non-invasive prenatal testing. This book covers topics such as molecular testing for preimplantation genetic diagnosis of single gene disorders; DNA extraction from various types of prenatal specimens; prenatal diagnosis of cystic fibrosis and Tay-Sachs disease; chromosomal SNP microarrays; and isolation of cell-free DNA from maternal plasma. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and thorough, Prenatal Diagnosis, Second Edition is a valuable resource for any researcher interested in reproducing these techniques in their clinical laboratories.

Author : Lieve Page-Christiaens
Publisher : Academic Press
ISBN 13 : 0128141905
Total Pages : 408 pages
Book Rating : 4.08/5 ( download)

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Download or read book Noninvasive Prenatal Testing (NIPT) written by Lieve Page-Christiaens and published by Academic Press. This book was released on 2018-08-19 with total page 408 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Author : Tamara Fischmann
Publisher : Springer Science & Business Media
ISBN 13 : 9400713967
Total Pages : 216 pages
Book Rating : 4.63/5 ( download)

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Download or read book Ethical Dilemmas in Prenatal Diagnosis written by Tamara Fischmann and published by Springer Science & Business Media. This book was released on 2011-05-27 with total page 216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Technological developments in the life sciences confront us with new facets of a Faustian seduction. Are we „playing God“ more and more, as claimed by critical authors of modernity? Achievements in genetic research produce ethical dilemmas which need to be the subject of reflection and debate in modern societies. Denial of ambivalences that ethical dilemmas arouse constitutes a threat to societies as well as to individuals. The book presents a compilation of some of the results of the interdisciplinary European study “Ethical Dilemmas Due to Prenatal and Genetic Diagnostics” (EDIG), which investigated some of these dilemmas in detail in a field which is particularly challenging: prenatal diagnosis. When results from prenatal diagnosis show fetal abnormalities, women and their partners are confronted with ethical dilemmas regarding: the right to know and the right not to know; decision-making about the remainder of the pregnancy and the desire for a healthy child; responsibility for the unborn child, for its well-being and possible suffering; life and death. This book provides answers from an ethical, psychoanalytical and medical viewpoint.

Author : J. G. Grudzinskas
Publisher : Cambridge University Press
ISBN 13 : 9780521452717
Total Pages : 364 pages
Book Rating : 4.16/5 ( download)

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Download or read book Screening for Down's Syndrome written by J. G. Grudzinskas and published by Cambridge University Press. This book was released on 1994-11-17 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Mark D. Kilby
Publisher : Cambridge University Press
ISBN 13 : 1108597645
Total Pages : 623 pages
Book Rating : 4.47/5 ( download)

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Download or read book Fetal Therapy written by Mark D. Kilby and published by Cambridge University Press. This book was released on 2020-01-02 with total page 623 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Rabih Chaoui
Publisher : Walter de Gruyter GmbH & Co KG
ISBN 13 : 3111249573
Total Pages : 540 pages
Book Rating : 4.75/5 ( download)

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Download or read book 3D Ultrasound in Prenatal Diagnosis written by Rabih Chaoui and published by Walter de Gruyter GmbH & Co KG. This book was released on 2024-06-17 with total page 540 pages. Available in PDF, EPUB and Kindle. Book excerpt: Initially known for its beautiful images of the faces of babies, 3D ultrasound has, however, become an important tool in prenatal diagnosis for its ability to image fetal organs in normal and abnormal conditions. This book is a state-of-the-art work conceived as a practical guide to the application of 3D ultrasound in obstetrics. The authors of this book have extensive expertise in 3D ultrasound that spans for more than 25 years. The book has three sections: one section on the technical principles of 3D ultrasound, a second section on various 3D rendering tools with a step-by-step explanation of its use. The third section is dedicated to the clinical use of 3D in the examination of the fetal organs. In this 2nd edition, the entire book has been revised and actualized.

Author : Aubrey Milunsky
Publisher : Springer Science & Business Media
ISBN 13 : 1468451553
Total Pages : 910 pages
Book Rating : 4.59/5 ( download)

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Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 910 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Joshua Copel
Publisher : Elsevier Health Sciences
ISBN 13 : 0323497365
Total Pages : 848 pages
Book Rating : 4.67/5 ( download)

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Download or read book Obstetric Imaging: Fetal Diagnosis and Care E-Book written by Joshua Copel and published by Elsevier Health Sciences. This book was released on 2017-07-18 with total page 848 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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. Features more than 1,350 high-quality images, including 400 in color. Helps you select the best imaging approaches and effectively interpret your findings with a highly templated, bulleted, at-a-glance organization. Reflects all the latest developments in the field, including genetics, open fetal surgery, fetal echocardiography, Zika virus, and 3D imaging, so you can provide the safest and most responsive care to both mother and fetus. Includes new chapters on Limbs and Bones Overview; Open Fetal Surgery; Biophysical Profile; Ultrasound Physics; Elastography; Doppler; MRI; Echogenic Bowel; Pregnancy of Unknown Location (PUL), Failed Pregnancy and Ectopic Pregnancy, Cesarean Scar Pregnancy; Cytomegalovirus (CMG), Rubella, Toxoplasmosis, Herpes, Varicella; and Congenital Syphilis; plus a new chapter on Zika Virus written by imaging experts from the "hot zone." Keeps you up to date with the latest developments in multimodality imaging and optimizing diagnostic accuracy from ultrasound, 3D ultrasound, Doppler, MRI, elastography, image-guided interventions, and much more.

Author : T.V.N. Persaud
Publisher : Springer Science & Business Media
ISBN 13 : 9401166692
Total Pages : 257 pages
Book Rating : 4.90/5 ( download)

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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.

Author : Miriam S. DiMaio
Publisher : John Wiley & Sons
ISBN 13 : 1444341545
Total Pages : 132 pages
Book Rating : 4.46/5 ( download)

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Download or read book Prenatal Diagnosis written by Miriam S. DiMaio and published by John Wiley & Sons. This book was released on 2011-04-06 with total page 132 pages. Available in PDF, EPUB and Kindle. Book excerpt: How can prenatal testing help your patients? In utero diagnosis has undergone an amazing revolution in recent years. More tests are available; the indications for prenatal diagnosis have expanded - you can now advise your patients about disorders you could not have previously detected. Medical training for obstetricians, medical geneticists, and genetic counselors has not kept pace with these developments. Clinical exposure to common and unusual problems in prenatal diagnosis is limited. Prenatal Diagnosis: Clinical Cases and Challenges, based on the authors’ several decades of experiences, fills this gap. Real cases portray diagnostic problems as a route to the underlying biology, the available testing options, and the results that might be obtained. The authors discuss the challenges of management, interpretation, and counseling. Cases used throughout emphasize three types of clinical problems: Chromosomal abnormalities Mendelian disorders Fetal structural abnormalities The decision to enter the world of prenatal diagnosis should be very carefully considered by any prospective mother. Prenatal Diagnosis: Clinical Cases and Challenges will help you discuss the issues in an informed manner with your patients.