Perinatal Genetics

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Perinatal Genetics

Perinatal Genetics
  • Author : Mary E Norton,Jeffrey A. Kuller,Lorraine Dugoff
  • Publisher : Elsevier Health Sciences
  • Release Date : 2019-01-23
  • Total pages : 350
  • ISBN : 9780323530965
  • File Size : 39,6 Mb
  • Total Download : 485
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Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade 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. Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more. Contains a chapter on fetal treatment of genetic disorders. Consolidates today’s available information and experience in this important area into one convenient resource.

Human Reproductive and Prenatal Genetics

Human Reproductive and Prenatal Genetics
  • Author : Peter C. K. Leung,Jie Qiao
  • Publisher : Academic Press
  • Release Date : 2018-08-28
  • Total pages : 709
  • ISBN : 9780128135716
  • File Size : 54,5 Mb
  • Total Download : 209
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Human Reproductive and Prenatal Genetics presents the latest material from a detailed molecular, cellular and translational perspective. Considering its timeliness and potential international impact, this all-inclusive and authoritative work is ideal for researchers, students, and clinicians worldwide. Currently, there are no comprehensive books covering the field of human reproductive and prenatal genetics. As such, this book aims to be among the largest and most useful references available. Features chapter contributions from leading international scientists and clinicians Provides in-depth coverage of key topics in human reproductive and prenatal genetics, including genetic controls, fertilization and implantation, in vitro culture of the human embryo for the study of post-implantation development, and more Identifies how researchers and clinicians can implement the latest genetic, epigenetic, and –omics based approaches

Understanding Genetics

Understanding Genetics
  • Author : Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services
  • Publisher : Lulu.com
  • Release Date : 2009
  • Total pages : 104
  • ISBN : 9780982162217
  • File Size : 50,5 Mb
  • Total Download : 757
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The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.

Prenatal Genetic Counseling

Prenatal Genetic Counseling
  • Author : Sam Riedijk,Karin E.M. Diderich
  • Publisher : Academic Press
  • Release Date : 2021-10-20
  • Total pages : 226
  • ISBN : 9780128233313
  • File Size : 49,6 Mb
  • Total Download : 486
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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. Features a range of international chapter authors addressing prenatal medicine from bench-to-bedside, including health care practitioners, scientists, patients and students. Covers use and psychological implications of technologies applied in prenatal decision-making, including NIPT, invasive testing with microarray analysis; exome sequencing; whole genome sequencing; and ultrasound screening and addresses diversity in prenatal genetic counseling Discusses next steps for prenatal genetic counseling research and common challenges in the clinic, with detailed case descriptions offering insights from the authors’ counseling experiences

Genetic Disorders and the Fetus

Genetic Disorders and the Fetus
  • Author : Aubrey Milunsky
  • Publisher : Springer Science & Business Media
  • Release Date : 2012-12-06
  • Total pages : 924
  • ISBN : 9781468451559
  • File Size : 36,9 Mb
  • Total Download : 430
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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.

Perinatal Genetics

Perinatal Genetics
  • Author : Mary E. Norton,Jeffrey A. Kuller,Lorraine Dugoff
  • Publisher : Elsevier
  • Release Date : 2019-01-21
  • Total pages : 206
  • ISBN : 032353094X
  • File Size : 21,7 Mb
  • Total Download : 699
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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. Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more. Contains a chapter on fetal treatment of genetic disorders. Consolidates today's available information and experience in this important area into one convenient resource.

Perinatal Genetics

Perinatal Genetics
  • Author : Ian H. Porter,Norma H. Hatcher,Ann M. Willey
  • Publisher : Elsevier
  • Release Date : 2013-09-03
  • Total pages : 320
  • ISBN : 9781483264486
  • File Size : 20,9 Mb
  • Total Download : 139
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Perinatal Genetics: Diagnosis and Treatment brings together the proceedings of the 15 Annual New York State Health Department Birth Defects Symposium held on September 30-October 1, 1984 in Albany, New York. The symposium provided a forum for clarifying and rationalizing certain aspects of diagnosis and treatment of perinatal genetic birth defects such as fragile X syndrome, phenylketonuria, and hypothyroidism. Comprised of 17 chapters, this book begins with an epidemiological review of very early pregnancy loss, focusing on fertilization and implantation; the probability of loss between fertilization and implantation (on about the sixth day), and between implantation and the 14th day (the first day of the expected next period in a non-pregnant woman); and the contribution of chromosomal errors in the sperm, ovum, and zygote to early reproductive loss. The reader is then introduced to cytogenetic abnormalities in spontaneous abortions of recognized conceptions; repetitive spontaneous abortion; and prenatal genetic diagnosis by chorionic villus sampling. Subsequent chapters explore prenatal treatment of biochemical disorders; in vitro fertilization and embryo transfer; and moral issues concerning third trimester pregnancy terminations. This monograph will appeal to perinatologists, neonatologists, obstetricians, pediatricians, and geneticists and should also serve as a useful guide for health professionals who provide care to pregnant women and their newborns.

Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling
  • Author : Amber Mathiesen,Kali Roy
  • Publisher : Oxford University Press
  • Release Date : 2018-04-30
  • Total pages : 224
  • ISBN : 9780190881047
  • File Size : 9,9 Mb
  • Total Download : 265
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An essential new text for genetic counseling's most sought-after skills Foundations of Perinatal Genetic Counseling is a practical introduction to the concepts and skills in genetic counseling with clients before and during pregnancy. Authored by genetic counselors at the forefront of contemporary perinatal practice, this all-in-one reference provides an accessible yet comprehensive overview of: · the basics of pregnancy, including assisted reproductive technologies and high-risk pregnancy management · preimplantation and prenatal genetic screening and diagnosis · the structure and goals of a genetic counseling appointment · common clinical scenarios and best-practice approaches Distilling the most pertinent information for new learners and practicing counselors, Foundations of Perinatal Genetic Counseling is an essential companion for both classroom and clinic. Perinatal genetic counselors will find themselves returning to this unique resource long after their training has come to an end.

Gender and Genetics

Gender and Genetics
  • Author : Kate Reed
  • Publisher : Routledge
  • Release Date : 2012
  • Total pages : 210
  • ISBN : 9780415554961
  • File Size : 50,5 Mb
  • Total Download : 190
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Prenatal screening for genetic disorders has become increasingly widespread in the UK. This book gives a unique and systematic analysis of the gendered nature of genetic screening, focusing on the experiences of both women and men.

Biomarkers of Postpartum Psychiatric Disorders

Biomarkers of Postpartum Psychiatric Disorders
  • Author : Jennifer L. Payne,Lauren M. Osborne
  • Publisher : Academic Press
  • Release Date : 2019-09-28
  • Total pages : 236
  • ISBN : 9780128158364
  • File Size : 51,5 Mb
  • Total Download : 151
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Biomarkers of Postpartum Psychiatric Disorders provides an up-to-date reference on the current research relating to biomarkers in psychiatric disorders, including major depressive disorder, OCD and bipolar disorder in the immediate postpartum time-period. It is the only reference on the market that synthesizes and interprets available data and reviews clinical phenotypes. Topics cover hormonal contributions, immunology, epigenetics and neuroimaging. While the risk of psychiatric illness during pregnancy appears to be equivalent to the risk at any other time in a woman’s life, the risk in the immediate postpartum time period is dramatically increased, hence the importance of the discussions in this title. Identifies epigenetic, hormonal, immunological and neuroimaging biomarkers Provides biomarkers for depression, OCD and psychosis Includes clinical phenotypes for psychiatric disorders Discusses future research and directions in the field

Prenatal Testing and Disability Rights

Prenatal Testing and Disability Rights
  • Author : Erik Parens,Adrienne Asch
  • Publisher : Georgetown University Press
  • Release Date : 2000-09-28
  • Total pages : 392
  • ISBN : 1589013948
  • File Size : 47,9 Mb
  • Total Download : 597
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As prenatal tests proliferate, the medical and broader communities perceive that such testing is a logical extension of good prenatal care—it helps parents have healthy babies. But prenatal tests have been criticized by the disability rights community, which contends that advances in science should be directed at improving their lives, not preventing them. Used primarily to decide to abort a fetus that would have been born with mental or physical impairments, prenatal tests arguably reinforce discrimination against and misconceptions about people with disabilities. In these essays, people on both sides of the issue engage in an honest and occasionally painful debate about prenatal testing and selective abortion. The contributors include both people who live with and people who theorize about disabilities, scholars from the social sciences and humanities, medical geneticists, genetic counselors, physicians, and lawyers. Although the essayists don't arrive at a consensus over the disability community's objections to prenatal testing and its consequences, they do offer recommendations for ameliorating some of the problems associated with the practice.

Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling
  • Author : R.J. MKinlay Gardner,Grant R Sutherland,Lisa G. Shaffer
  • Publisher : OUP USA
  • Release Date : 2011-11-11
  • Total pages : 650
  • ISBN : 9780195375336
  • File Size : 25,5 Mb
  • Total Download : 988
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Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

Born Well: Prenatal Genetics and the Future of Having Children

Born Well: Prenatal Genetics and the Future of Having Children
  • Author : Megan A. Allyse,Marsha Michie
  • Publisher : Springer Nature
  • Release Date : 2021-12-29
  • Total pages : 138
  • ISBN : 9783030825362
  • File Size : 49,9 Mb
  • Total Download : 418
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This book brings together an international collection of experts in reproductive ethics, law, disability studies, and medicine to explore the challenging future of reproduction and children. From the medical to the social and from the financial to the legal, the authors explore the expanding impact of reproductive genetics on our society. New advances in genetic technologies are revolutionizing the practice of reproductive medicine. We have expanded our ability to detect genetic changes in embryos and fetuses in ways that potentially allow to identify, treat, or prevent a growing range of diseases. The development of gene-editing technologies raises questions about the possibility of removing disease-causing variants from embryos before pregnancy implantation. The growing sophistication of prenatal genomic sequencing offers us glimpses into the whole genome of the developing fetus. And, the increasingly sophisticated science of 'gene matching' allows us greater and greater foreknowledge of how the genomes of two individuals will combine in a future child. This is an indispensable book on the newest developments in bioethics caused by the sciences. Chapter 5 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

A Handbook of Clinical Genetics

A Handbook of Clinical Genetics
  • Author : J. S. Fitzsimmons
  • Publisher : Butterworth-Heinemann
  • Release Date : 2013-10-22
  • Total pages : 168
  • ISBN : 9781483140988
  • File Size : 14,9 Mb
  • Total Download : 588
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A Handbook of Clinical Genetics focuses on clinical genetics and the growing demand for genetic counseling. This book begins by introducing issues regarding changes in morbidity and mortality; fall in birth rate; advances in technology and treatment; and complex social changes. Other topics covered include genetic and environmental factors in disease; the genetic code; pedigree information; inheritance patterns; genetic counseling; prenatal diagnosis of genetic disease; special problems; and ethical issues and future developments. The last portion of this text is devoted to a glossary of unfamiliar medical terms, list of recommended books for further research and study, and appendices consist of a case on genetic counseling for Down's syndrome. This handbook is suitable for nurses, medical students, and doctors needing an introduction to clinical genetics.

Developmental and Fetal Origins of Differences in Monozygotic Twins

Developmental and Fetal Origins of Differences in Monozygotic Twins
  • Author : Alexandra Matias,Isaac Blickstein
  • Publisher : Academic Press
  • Release Date : 2020-05-15
  • Total pages : 386
  • ISBN : 9780128203071
  • File Size : 51,9 Mb
  • Total Download : 675
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Developmental and Fetal Origins of Differences in Monozygotic Twins: From Genetics to Environmental Factors examines the major causes of discordance in monozygotic twins, from genetic, to environmental influences, including discussions on the genetic, epigenetic, fetal and environmental factors. Twin differences discussed include malformations, deformations and disruptions secondary to inequitable division of the early embryo, chromosome and single gene mosaicism, Nonrandom X chromosome inactivation, mitochondrial heteroplasmy, epigenetic variation, and variable and inequitable blood supply, among other influences. Differences in hemoglobin levels, placentation and amniotic fluid are also examined, while full color images illustrate discordant anomalies and twin differences throughout. Examines the major causes of discordance in monozygotic twins and their relevance for future studies and clinical management Discusses NIPT in MZ twins, twin imaging during fetal development, blood tests and forensic analysis Features contributions from international experts in twin genetics and developmental biology

Fetal Cardiology

Fetal Cardiology
  • Author : Simcha Yagel,Norman H. Silverman,Ulrich Gembruch
  • Publisher : CRC Press
  • Release Date : 2018-09-03
  • Total pages : 842
  • ISBN : 9780429865732
  • File Size : 13,7 Mb
  • Total Download : 891
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The third edition of this established reference is the product of the combined efforts of many professionals – obstetricians, pediatric cardiologists, sonographers, molecular biologists, and medical physicists – and is a comprehensive guide intended for anyone interested in scanning the fetal cardiac system.

Reproductive and Perinatal Epidemiology

Reproductive and Perinatal Epidemiology
  • Author : Germaine M. Buck Louis,Robert W. Platt
  • Publisher : Oxford University Press
  • Release Date : 2011-03-23
  • Total pages : 360
  • ISBN : 9780199874798
  • File Size : 41,7 Mb
  • Total Download : 406
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The definitive textbook on the subject, offering a core curriculum that addresses the epidemiology of major reproductive and perinatal outcomes.

Fundamental and Advanced Fetal Imaging

Fundamental and Advanced Fetal Imaging
  • Author : Beth Kline-Fath,Ray Bahado-Singh,Dorothy Bulas
  • Publisher : Lippincott Williams & Wilkins
  • Release Date : 2014-09-09
  • Total pages : 3052
  • ISBN : 9781469883571
  • File Size : 38,6 Mb
  • Total Download : 147
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Effectively evaluate obstetric patients with Fundamental and Advanced Fetal Imaging: Ultrasound and MRI! Written by an impressive roster of leading fetal radiologists and maternal-fetal medicine specialists, with additional input from cardiologists, geneticists, and Doppler specialists, this state-of-the-art reference explores how to obtain the maximum information from fetal ultrasound and magnetic resonance imaging, so you can rule out pathologies with confidence – or identify them early enough to initiate the most appropriate interventions.

Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling
  • Author : Amber Mathiesen,Kali Roy
  • Publisher : Oxford University Press
  • Release Date : 2018
  • Total pages : 289
  • ISBN : 9780190681098
  • File Size : 26,7 Mb
  • Total Download : 155
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Foundations of Perinatal Genetic Counseling is a practical introduction to the concepts and skills in genetic counseling with clients before and during pregnancy. Authored by genetic counselors at the forefront of contemporary perinatal practice, this all-in-one reference provides an accessible yet comprehensive overview of: the basics of pregnancy, including assisted reproductive technologies and high-risk pregnancy management; preimplantation and prenatal genetic screening and diagnosis; the structure and goals of a genetic counseling appointment; common clinical scenarios and best-practice approaches. Distilling the most pertinent information for new learners and practicing counselors, Foundations of Perinatal Genetic Counseling is an essential companion for both classroom and clinic. Perinatal genetic counselors will find themselves returning to this unique resource long after their training has come to an end. Contents: Pregnancy basics -- The perinatal genetic counseling appointment and family history -- Prenatal screening -- Prenatal diagnosis -- Common indications -- Pregnancy management -- Assisted reproductive technology and reproductive options for the at risk couple -- Common perinatal genetic counseling situations.

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
  • Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
  • Publisher : Academic Press
  • Release Date : 2021-11-02
  • Total pages : 318
  • ISBN : 9780128152379
  • File Size : 53,8 Mb
  • Total Download : 577
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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Textbook of Perinatal Medicine

Textbook of Perinatal Medicine
  • Author : Asim Kurjak,Frank A. Chervenak
  • Publisher : CRC Press
  • Release Date : 2006-09-25
  • Total pages : 2304
  • ISBN : 9781439814697
  • File Size : 37,9 Mb
  • Total Download : 382
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Pregnancy, childbirth and being a newborn are not diseases - they are special periods in human life when the risk of death or disability can be very high. Recognizing this, the last decade has brought enormous progress in science and technology into improving maternal and newborn health, such as the treatment of genetic diseases, intra-uterine surg