Prenatal Diagnosis
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Prenatal Diagnostic Testing For Genetic Disorders
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Author : Gian Carlo Di Renzo
language : en
Publisher: Springer Nature
Release Date : 2023-07-21
Prenatal Diagnostic Testing For Genetic Disorders written by Gian Carlo Di Renzo and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-07-21 with Medical categories.
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.
Prenatal Diagnosis
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Author : Lenore Abramsky
language : en
Publisher: Springer
Release Date : 2013-11-11
Prenatal Diagnosis written by Lenore Abramsky and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-11-11 with Medical categories.
This book evolved out of a conference which was held because of our conviction that prenatal screening and diagnostic techniques provide carers with a two-edged sword which can do both good and harm - often at the same time to the same person. The conference ('The Human Side of Prenatal Diagnosis') dealt with emotional, ethical and legal issues in prenatal screening and diagnosis. It took place in March 1992 at the Institute of Obstetrics and Gynaecology in London and was attended by obstetricians, paediatricians, geneticists, midwives and ultrasonographers from the North West Thames Health Region. The demand for places at the conference far exceeded the number of places avail able and many people who attended expressed the hope that we would be organizing similar conferences in the future. This confirmed our belief that we were not the only ones preoccupied with the human issues raised by the new technologies and encouraged us to work towards this publication. Prenatal diagnosis and the possibility of selective termination of affected pregnancies is part of a wider move towards repro ductive choice. Like contraception and assisted conception, it can make a major difference to the lives of some people. In our culture, we tend to view choice as a good thing. We look upon it as our right to choose our occupation, our partner, the place where we live, the books that we read and the way that we vote.
Prenatal Screening And Diagnosis An Issue Of Clinics In Laboratory Medicine E Book
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Author : Anthony O. Odibo
language : en
Publisher: Elsevier Health Sciences
Release Date : 2010-08-11
Prenatal Screening And Diagnosis An Issue Of Clinics In Laboratory Medicine E Book written by Anthony O. Odibo and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-08-11 with Medical categories.
This issue of Clinics in Laboratory Medicine, Guest Edited by Anthony Odibo and David Krantz, will feature article topics such as: Screening for Chromosomal abnormalities; Cystic fibrosis screening; The role of second-trimester screening, in the post-first trimester screening era; Modifying risk for Aneuploidy with second-trimester ultrasound after a positive serum screen; Cost-effectiveness of Down syndrome screening paradigms; Biochemical and biophysical screening for the risk of Preterm delivery; Pre-implantation genetic diagnosis; Prenatal testing for infectious disease, Thrombophilias, Preeclampsia, Neural Tube Defects; Management of Multiple Pregnancy; Genetic Counseling Issues in Down syndrome Screening; First Trimester Ultrasound Markers; Quality Control of Nuchal Translucency; Clinical Implications of First Trimester Screening; Adverse Pregnancy Outcomes after Positive Screening; First Trimester Combined Screening: Instant Risks Approach.
Prenatal Diagnosis
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Author : Miriam S. DiMaio
language : en
Publisher: John Wiley & Sons
Release Date : 2011-04-06
Prenatal Diagnosis written by Miriam S. DiMaio and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-04-06 with Medical categories.
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.
Prenatal Diagnosis
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Author : Mark I. Evans
language : en
Publisher: McGraw Hill Professional
Release Date : 2007-04-10
Prenatal Diagnosis written by Mark I. Evans and has been published by McGraw Hill Professional this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-04-10 with Medical categories.
A comprehensive reference on diagnosis and evaluation of reproductive risks and genetically related high-risk pregnancies. Authored by international group of experts, this book is organized according to diagnostic method, source of reproductive risk, and system under evaluation. Features the latest imaging technology, a review of genetics, molecular biology, and cytogenetics, and special chapters on counseling, cross-cultural, legal, and ethical issues.
Prenatal Screening And Diagnosis An Issue Of The Clinics In Laboratory Medicine E Book
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Author : Anthony O. Odibo
language : en
Publisher: Elsevier Health Sciences
Release Date : 2016-06-11
Prenatal Screening And Diagnosis An Issue Of The Clinics In Laboratory Medicine E Book written by Anthony O. Odibo and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-06-11 with Medical categories.
This issue of Clinics in Laboratory Medicine, edited by Drs. Anthony Odibo and David A. Krantz, covers issues surrounding Prenatal Screening and Diagnosis. Topics examined in this issue include, but are not limited to: Strategies for Implementing cfDNA Testing; Genetic Counselling for Patients Considering Screening and Diagnosis of Chromosomal Abnormalities; Microdeletions/Duplications; Sex Chromosome Abnormalities; First-, Second- and Third-Trimester Screening for Preeclampsia and Intrauterine Growth Restriction; Biophysicial/Biochemical Screening for the Risk of Preterm Labor; Preimplantation Genetic Testing; Toxoplasmosis, Parvovirus and Cytomegalovirus in Pregnancy; and Sleep Apnea and Adverse pregnancy Outcomes.
Ethical Dilemmas In Prenatal Diagnosis
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Author : Tamara Fischmann
language : en
Publisher: Springer Science & Business Media
Release Date : 2011-05-27
Ethical Dilemmas In Prenatal Diagnosis written by Tamara Fischmann and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-05-27 with Medical categories.
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.
Handbook Of Prenatal Diagnosis
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Author : R. J. Trent
language : en
Publisher: Cambridge University Press
Release Date : 1995-09-29
Handbook Of Prenatal Diagnosis written by R. J. Trent and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1995-09-29 with Medical categories.
A well illustrated handbook of current science, practice and ethical issues in prenatal diagnosis.
Technologies For Prenatal Diagnosis And Assessment Of Genetic Disorders
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Author : Fan Jin
language : en
Publisher: Frontiers Media SA
Release Date : 2020-06-22
Technologies For Prenatal Diagnosis And Assessment Of Genetic Disorders written by Fan Jin and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-06-22 with categories.
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.
Prenatal And Preimplantation Diagnosis
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Author : Joann Paley Galst
language : en
Publisher: Springer
Release Date : 2015-08-26
Prenatal And Preimplantation Diagnosis written by Joann Paley Galst and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-08-26 with Medical categories.
This book aims to expand the awareness and understanding of the emotional sequelae of prenatal/preimplantation diagnosis, prenatal decision-making, pregnancy interruption for fetal anomaly, multifetal reduction for high-order multifetal pregnancies and preimplantation choices involving the selection of embryos. Featuring a multi-disciplinary approach, it examines prenatal and preimplantation diagnosis from medical, legal, ethical and psychosocial perspectives. Prenatal and Preimplantation Diagnosis is an excellent resource for obstetricians, reproductive endocrinologists, clinical geneticists, genetic counselors and mental health professionals seeking to better support patients faced with difficult choices.