June 14, 2021

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Prenatal Genetic Counseling in Congenital Anomalies

Prenatal Genetic Counseling in Congenital Anomalies
Author : Mihaela Amelia Dobrescu
Publisher : Unknown
Release Date : 2018
Category : Medicine
Total pages :129
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The impact of genetic variability on embryogenesis and fetus development established medical genetics as essential for the prevention of congenital anomalies, early detection and appropriate management. Advances in ultrasonography equipment and technique allow early detection of many congenital malformations. In addition, genetic testing can be performed in a prenatal setting on a variety of biological samples obtained by invasive and noninvasive procedures: chorionic villus sampling, amniocentesis, cordocentesis, or maternal blood collection (id est, cell free fetal DNA). In the past, only a small percentage of congenital anomalies had a readily identifiable etiology; genetic diagnostic procedures can provide at least some of the answers for the remaining unsolved cases. Undoubtedly, the need for appropriate case management and counseling justifies the importance of uncovering the underlying genetic cause of birth defects. In this chapter, we will focus on genetic counseling in congenital anomalies, including isolated congenital anomalies and preimplantation genetic diagnosis. Genetic counseling provides information and support, assisting parents in making informed decisions. Through this process, parents learn about the risk of having a newborn with a congenital malformation and the nature of the disorder and its natural history, are advised on available testing for that particular case, and discuss options for risk management and family planning.

Fetal Morph Functional Diagnosis

Fetal Morph Functional Diagnosis
Author : Hideaki Masuzaki
Publisher : Springer Nature
Release Date : 2020-12-05
Category : Medical
Total pages :354
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This book explores the recent clinical and research findings in the field of prenatal screening and diagnosis. It presents new devices and tests such as real-time 3D ultrasound, ultrafast fetal MRI, and next-generation sequencing and discusses genetic counseling and fetal therapy. Written by pioneering scientists, the book is divided into six themed parts: ultrasound examination, genetic tests, genetic disorders, chromosomal diseases, genetic counseling, and techniques, presenting carefully prepared original data.This thought-provoking, instructive and informative book is intended for geneticists, obstetricians, pediatricians, genetic counselors and nurses. Although the incidence of congenital abnormalities such as structural, chromosomal and genetic disorders is very low, it is important to have accurate information on their incidence and likely outcome, and on the screening and diagnosis of congenital abnormalities during pregnancy care. This book provides valuable insights into prenatal screening, genetic counseling and fetal diagnosis.

Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling
Author : Amber Mathiesen,Kali Roy
Publisher : Oxford University Press
Release Date : 2018
Category : Medical
Total pages :288
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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.

Birth Defects and Genetic Screening and Counseling

Birth Defects and Genetic Screening and Counseling
Author : Annemarie Sommer
Publisher : Unknown
Release Date : 1985
Category : Abnormalities, Human
Total pages :129
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Genetic Disorders and the Fetus

Genetic Disorders and the Fetus
Author : Aubrey Milunsky,Jeff M. Milunsky
Publisher : John Wiley & Sons
Release Date : 2021-04-19
Category : Science
Total pages :1392
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"The time is fast approaching when virtually all the culprit genes and their mutations for 7,000 rare monogenic disorders1 will be known. Thus far causal single genes and their mutations have been determined for 5,6732 genetic disorders, enabling pre-implantation genetic testing or prenatal genetic diagnosis. These advances using chromosomal microarrays, whole exome sequencing and even whole genome sequencing together with fetal imaging, and non-invasive prenatal testing, expand the era in which all couples have the option of avoiding or preventing having children with irreversible, irremediable, crippling, or lethal monogenic disorders. Primary care physicians, and those in all medical specialties, will need to inform their patients of this key option. This imperative is already partly in current practice. Missing is the requirement of physicians to request and obtain the precise name of the genetic disorder in question or an existing DNA report on a family member, for prospective parents to benefit from available options"--

Community Control of Genetic and Congenital Disorders

Community Control of Genetic and Congenital Disorders
Author : Alaʻdin A. S. Alwan,Bernadette Modell
Publisher : World Health Organization
Release Date : 1997
Category : Medical
Total pages :218
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A comprehensive guide to recommended strategies for controlling genetic and congenital disorders in Eastern Mediterranean countries. Addressed to policy-makers and service providers, the book aims to heighten awareness of these disorders while also increasing understanding of the interventions available for prevention and control. Although all major hereditary disorders are covered, particular attention is given to haemoglobin disorders, including thalassaemia and sickle cell disease, which are extremely common in these countries. The book has fourteen chapters presented in four parts. Part one introduces the growing problem of genetic disorders, outlines options for treatment and prevention, and explains the principals of diagnosis. Current and future applications of genetic technology are also briefly discussed. Chapters in part two assess the epidemiological situation in Eastern Mediterranean countries for congenital malformation and chromosomal disorders, single gene disorders, and several common diseases, such as hypertension, diabetes, coronary heart disease, and some cancers that are now know to have a hereditary component. The genetic implications of consanguineous marriage, which remains common in some of these countries, are considered in particular detail. Available approaches for prevention are described in part three. Separate chapters cover primary health care approaches, the use of family history and population screening to identify couples or families at risk, and the roles of counseling, prenatal diagnosis, and neonatal screening. Part four offers practical advice on policies and services for prevention.

Genetic Disorders and the Fetus

Genetic Disorders and the Fetus
Author : Aubrey Milunsky,Jeff M. Milunsky
Publisher : John Wiley & Sons
Release Date : 2011-09-07
Category : Medical
Total pages :1184
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Highly Commended in the Obstetrics and Gynaecology category of the 2010 BMA Medical Book Competition Brand new edition of the world's leading text on prenatal diagnosis This 6th Edition of Genetic Disorders and the Fetus maintains it's pre-eminence as the major repository of facts about prenatal diagnosis. It provides a critical analysis and synthesis of established and new knowledge based on the long experience of authorities in their respective fields. A broad international perspective is presented through authoritative contributions from authors in 11 countries. All chapters and guidelines have been updated to reflect contemporary practice. New chapters have been introduced on: The use of chromosomal microarrays in prenatal diagnosis The social, legal and public policy issues with special reference to international approaches The important peroxisomal and related fatty acid oxidation disorders Extensive tables and clear illustrations assist in differential diagnosis, gene identification and diagnostic modes. The recognition of many new and unresolved challenges should provide inspiration for novel research initiatives. The guidance provided and the insights and perspectives of these authors make this volume a valuable and indispensable resource for all whose focus is securing fetal health through prenatal diagnosis. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment is an essential resource for all engaged in prenatal genetic diagnosis, especially obstetricians, maternal-fetal medicine specialists, medical geneticists, genetic counsellors, and pediatricians, but also many other specialties.

Prenatal Diagnosis

Prenatal Diagnosis
Author : Miriam S. DiMaio,Joyce E. Fox,Maurice J. Mahoney
Publisher : John Wiley & Sons
Release Date : 2011-04-06
Category : Medical
Total pages :136
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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.

Genomic Testing for Prenatal Clinical Evaluation of Congenital Anomalies

Genomic Testing for Prenatal Clinical Evaluation of Congenital Anomalies
Author : Gorazd Rudolf
Publisher : Unknown
Release Date : 2018
Category : Medicine
Total pages :129
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Congenital anomalies occur in about 2-3% of liveborn and 20% of stillborn infants. They constitute a serious public health and epidemiological problem. The etiology of congenital anomalies is complex; they can result from genetic factors, environmental factors, or a combination of both. It is estimated that genetic factors represent an important cause of congenital anomalies and may be due to different genetic mechanisms: aneuploidies, deletions and duplications of DNA segments, and single gene disorders. Due to the genetic complexity, the targeted prenatal genetic diagnostics of congenital anomalies is usually problematic and challenging. In recent years new diagnostic algorithms for prenatal genetic testing are being developed with the advent of new genomic technologies, like molecular karyotyping and next-generation sequencing. These technologies offer testing options that exceed conventional karyotyping and targeted molecular genetic testing with better diagnostic yield. In this chapter, an overview of the conventional genetic diagnostic approach and the use of new genomic technologies in the diagnostic algorithm of prenatally detected congenital anomalies are discussed.

Prenatal diagnosis and genetic counseling of Neural tube defects

Prenatal diagnosis and genetic counseling of Neural tube defects
Author : Chih-Ping Chen
Publisher : Elsevier Health Sciences TW
Release Date : 2009
Category : Neural tube
Total pages :342
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Control of Hereditary Diseases

Control of Hereditary Diseases
Author : WHO Scientific Group on the Control of Hereditary Diseases,World Health Organization
Publisher : WHO Technical Report
Release Date : 1996
Category : Medical
Total pages :84
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An expert assessment of striking recent developments in molecular genetics and their implications for medical practice at present and in the immediate future. Adopting a public health approach the report aims to help medical decision-makers and practitioners understand both the technical basis of progress and its potential to revolutionize the management of numerous diseases. Advances in the prevention and treatment of classical genetic disorders are considered together with newer opportunities opened by knowledge that many common disorders including coronary heart disease and certain cancers have a genetic component. Throughout the report a special effort is made to help planners in developing and developed countries alike reap the full public health benefits of technologies that are becoming increasingly powerful simple and inexpensive to use. Information ranges from a discussion of the state-of-the-art in gene therapy through a tabular summary of treatment results for specific congenital anomalies to advice on ways to integrate simple genetic approaches into everyday medical practice. Relevant ethical social and legal issues are also critically assessed in an effort to provide comprehensive guidance. The report has eight sections. Background information is provided in the first which explains the structure and functions of DNA summarizes knowledge about the genetic basis of both single-gene and multifactorial disorders and traces the spectacular development of DNA technology and diagnostic tests over the past decade. The Human Genome Project - and its potential to transform medical practice on many levels - are also explained in detail. A section on epidemiology discusses factors influencing the frequency of genetic and congenital disorders and describes opportunities for their management and prevention. The impact that these advances will have on the demand for genetic services is also assessed. The large scale of implications for medical practice is underscored in the third section which reviews and interprets growing knowledge about the genetic component of many common disorders including coronary heart disease certain cancers asthma diabetes mental disorders and Alzheimer disease. A comprehensive review of current and future opportunities for prevention including both genetic family studies and population screening is followed by sections covering the basic principles of genetic counseling and opportunities within the context of obstetric care for prenatal diagnosis using ultrasound scanning and DNA technology. The remaining sections offer advice on the organization of genetic services in industrialized and developing countries alike and discuss the ethical social and legal aspects of genetic technology in medicine concluding that the broadest ethical issue in the area of genetic services is their limited availability.

A Handbook of Clinical Genetics

A Handbook of Clinical Genetics
Author : J. S. Fitzsimmons
Publisher : Butterworth-Heinemann
Release Date : 2013-10-22
Category : Health & Fitness
Total pages :168
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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.

Genetic Disorders and the Fetus

Genetic Disorders and the Fetus
Author : Aubrey Milunsky,Jeff M. Milunsky
Publisher : John Wiley & Sons
Release Date : 2015-09-16
Category : Medical
Total pages :1208
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Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis. The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.

Genetic Counseling Following a Positive X-AFP Result

Genetic Counseling Following a Positive X-AFP Result
Author : Van T. T. Hoang
Publisher : Unknown
Release Date : 2010
Category :
Total pages :98
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While most genetic diseases are rare, there are thousands of distinct human genetic diseases and gene variants that contribute to common ailments. In that sense, harmful genetic variation is common and plays a role in most morbidity and mortality. As more genetic factors in familiar diseases are identified, genetics will become relevant to nearly everyone's health care. So much so that the primary care physicians (PCPs) now have the responsibility to incorporate genetics services into routine health care. Unfortunately, because of rapid advances in genetics, the complexity of genetic assessment and testing, and the time-consuming nature of addressing these issues in a busy practice, many PCPs feel overwhelmed by this challenge. This study evaluates the utility of genetic counseling to identify issues relevant to fetal or parental genetic health while indirectly assesses the ability of prenatal care providers to identify patients with potentially significant risks. Charts belonging to 255 patients younger than 35 referred to the UCI Medical Center for genetic counseling during 2007 after a positive Expanded Alpha-fetoprotein (X-AFP) screen were reviewed. Patients with an abnormal X-AFP result are at increased risk to have a fetus with certain birth defects or chromosome abnormalities. Any woman with a positive X-AFP screen is eligible for genetic counseling, ultrasound, and (if indicated) amniocentesis at a state-approved prenatal diagnostic center. Previously unsuspected risk factors identified during genetic counseling were considered significant if they increased risk to the fetus by ≥0.5%, required additional testing of the parent(s) and/or fetus, changed pregnancy management, or suggested additional evaluation or counseling of extended family members. Such additional risk factors were identified in 43% of patient population. The most frequent risks were due to: 1) the ethnic background of patient and/or partner that increases the chance for a genetic disorder that they were not yet screened for, 2) a maternal condition that could potentially increase maternal and/or fetal risk, 3) a history of a potential familial cancer, and 4) a history of a congenital anomaly. By comparing results with three previous UCI studies of similar designs, the current study found that PCPs' awareness of genetic risks has not improved. This study shows the need for increased genetics awareness and education of local referring physicians. It also affirms the utility of reviewing a family history questionnaire and obtaining a pedigree during genetic counseling to identify those with increased risk for genetic conditions and/or birth defects. The findings justify taking the time to explore and discuss family history with patients.

Congenital Anomalies

Congenital Anomalies
Author : Stefania Tudorache
Publisher : BoD – Books on Demand
Release Date : 2018-05-02
Category : Medical
Total pages :544
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Nowadays, nobody can imagine practicing obstetrics without using obstetrical ultrasound. Working in the prenatal diagnosis field requires dedication, patience, skills, experience, caution, and empathy. The concept of this book was guided by the desire to provide some help to the ultrasound operators. On a daily basis, they are confronted with the challenging task of ruling out or suspecting/confirming the diagnosis of fetal anomalies, either structural or chromosomal. The chapters of this book contain objective and exhaustive updated reviews of the pertinent literature, so that the reader would have a wide reference basis on each subject. Yet, many authors scan the fetus themselves or are directly involved with managing pregnancies with structural malformations or chromosomal anomalies. They kindly shared their personal experience and lessons learned over the years. This book is beneficial for all the professionals working in the prenatal diagnosis.