Prenatal Screening And Diagnosis
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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 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.
Before Birth
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Author : Elizabeth Ettorre
language : en
Publisher: Routledge
Release Date : 2017-10-23
Before Birth written by Elizabeth Ettorre and has been published by Routledge this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-10-23 with Social Science categories.
This title was first published in 2001. Featuring contributions from the UK, Finland, The Netherlands and Greece, this unique book explores the ongoing tensions and important ethical, legal and social issues related to the development of prenatal screening and the growth of new genetic technologies.
Prenatal Screening And Diagnosis
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Author : Anthony O. Odibo
language : en
Publisher: Saunders
Release Date : 2010
Prenatal Screening And Diagnosis written by Anthony O. Odibo and has been published by Saunders this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010 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 : 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.
Noninvasive Prenatal Testing Nipt
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Author : Lieve Page-Christiaens
language : en
Publisher: Academic Press
Release Date : 2018-08-19
Noninvasive Prenatal Testing Nipt written by Lieve Page-Christiaens and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-08-19 with Medical categories.
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
Prenatal Diagnosis
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Author : Brynn Levy
language : en
Publisher: Humana
Release Date : 2018-12-01
Prenatal Diagnosis written by Brynn Levy and has been published by Humana this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-12-01 with Science categories.
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.
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 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 Screening And Diagnosis
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Author : Elsevier Health Sciences
language : en
Publisher: Bailliere Tindall Limited
Release Date : 2002-12
Prenatal Screening And Diagnosis written by Elsevier Health Sciences and has been published by Bailliere Tindall Limited this book supported file pdf, txt, epub, kindle and other format this book has been release on 2002-12 with categories.