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Fetus --- Fetal monitoring --- Prenatal diagnosis --- Fetal monitoring. --- Prenatal diagnosis. --- Diseases --- Physiology --- Abnormalities --- Abnormalities. --- Diseases. --- Physiology. --- Foetus --- Unborn child --- Embryology --- Reproduction --- Antenatal diagnosis --- Intrauterine diagnosis --- Prenatal testing --- Diagnosis --- Obstetrics --- Embryopathies --- Pregnancy --- Abnormalities, Human --- Assessment, Fetal --- Fetal assessment --- Fetal surveillance --- Monitoring, Fetal --- Surveillance, Fetal --- Patient monitoring --- Complications --- Abnormities and deformities --- Monitoring
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De laatste decennia heeft de screening voor chromosomale afwijkingen, vooral trisomie 21, een grote evolutie gekend. In de jaren 80 werd nog systematisch een vruchtwaterpunctie aangeboden aan vrouwen vanaf 35-36 jaar. Daarna werd de tripletest ontwikkeld, die werd opgevolgd door de meer sensitieve combinatietest, die bestaat uit nekplooimeting en biochemie. Inmiddels is ook de niet-invasieve prenatale test (NIPT) mogelijk. Dit boek geeft een volledig overzicht van de mogelijke screeningstesten voor trisomie 21. Het gaat ook in op de implicaties van gestoorde biochemie en verdikte nekplooi voor het verdere zwangerschapsverloop. Tevens worden de invasieve testen uitgelegd met de mogelijke onderzoeken op het bekomen materiaal (karyotypering, FISH, MLPA, QF-PCR en microarray). Ook de counselingtechnieken en het slechtnieuwsgesprek komen uitgebreid aan bod. Hierdoor biedt het boek een goed overzicht voor iedereen die nauw betrokken is bij prenatale diagnostiek, vroedvrouwen, echoscopisten, huisartsen, gynaecologen en voor iedereen die zich vertrouwd wil maken met de prenatale screening en diagnose van chromosomale afwijkingen.
Human genetics --- chromosomen --- Gynaecology. Obstetrics --- amnioscopie --- prenatale fase --- medische genetica --- aangeboren afwijkingen --- prenatale diagnose --- Prenatal diagnosis --- PXL-Healthcare 2016 --- vroedkunde --- zwangerschapsonderzoek --- Prenataal onderzoek --- Medische ethiek --- Screening --- pren --- 614.551 --- prenatale screening --- geboorteafwijkingen --- vruchtwaterpunctie --- Screening (geneeskunde)
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Foetus --- Grossesse à haut risque --- Grossesse --- Diagnostic prénatal --- Fetal Diseases. --- Pregnancy Complications --- Pregnancy --- Prenatal Diagnosis --- Fetus --- Maladies --- Physiologie --- physiology --- Antenatal Diagnosis --- Antenatal Screening --- Diagnosis, Antenatal --- Diagnosis, Intrauterine --- Prenatal Screening --- Diagnosis, Prenatal --- Intrauterine Diagnosis --- Antenatal Diagnoses --- Antenatal Screenings --- Diagnoses, Antenatal --- Diagnoses, Intrauterine --- Diagnoses, Prenatal --- Intrauterine Diagnoses --- Prenatal Diagnoses --- Prenatal Screenings --- Screening, Antenatal --- Screening, Prenatal --- Screenings, Antenatal --- Screenings, Prenatal --- Genetic Testing --- Neonatal Screening --- Preimplantation Diagnosis --- Genetic Services --- Complications, Pregnancy --- Complication, Pregnancy --- Pregnancy Complication --- Obstetrics --- Perinatology --- Pregnancy, High-Risk --- Embryopathies --- Disease, Fetal --- Diseases, Fetal --- Embryopathy --- Fetal Disease --- complications --- Prenatal diagnosis. --- Fetal Diseases --- Diseases. --- Complications. --- physiology. --- Pregnancy Complications. --- Prenatal Diagnosis. --- Grossesse à haut risque. --- Diagnostic prénatal. --- Maladies. --- Physiologie. --- Fetal Diagnosis --- Fetal Imaging --- Fetal Screening --- Diagnosis, Fetal --- Fetal Diagnoses --- Fetal Imagings --- Fetal Screenings --- Imaging, Fetal --- Screening, Fetal
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Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential d
Genetic disorders. --- Symptoms --- Child. --- Genetic Diseases, Inborn --- Diagnosis, Differential. --- Genetic Testing. --- Signs and Symptoms. --- Symptoms and Signs --- Genetic Screening --- Predictive Genetic Testing --- Predictive Testing, Genetic --- Testing, Genetic Predisposition --- Genetic Predisposition Testing --- Genetic Predictive Testing --- Genetic Screenings --- Genetic Testing, Predictive --- Predisposition Testing, Genetic --- Screening, Genetic --- Screenings, Genetic --- Testing, Genetic --- Testing, Genetic Predictive --- Testing, Predictive Genetic --- Genetic Predisposition to Disease --- Prenatal Diagnosis --- Preimplantation Diagnosis --- Cytogenetic Analysis --- Molecular Diagnostic Techniques --- Databases, Genetic --- Databases, Nucleic Acid --- Genetic Privacy --- Diagnoses, Differential --- Differential Diagnoses --- Differential Diagnosis --- Children --- Minors --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- diagnosis. --- diagnosis
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Genetic Counseling Research: A Practical Guide is the first text devoted to research methodology in genetic counseling. This text offers step-by-step guidance for conducting research, from the development of a question to the publication of findings. Genetic counseling examples, user-friendly worksheets, and practical tips guide readers through the research and publication processes. With a highly accessible, pedagogical approach, this book will help promote quality research by genetic counselors and research supervisors--and in turn, increase the knowledge base for genetic counseling practice
Medical genetics. --- Genetic Research. --- Genetic Counseling. --- Research Design. --- Data Adjustment --- Data Reporting --- Design, Experimental --- Designs, Experimental --- Error Sources --- Experimental Designs --- Matched Groups --- Methodology, Research --- Problem Formulation --- Research Methodology --- Research Proposal --- Research Strategy --- Research Technics --- Research Techniques --- Scoring Methods --- Experimental Design --- Adjustment, Data --- Adjustments, Data --- Data Adjustments --- Design, Research --- Designs, Research --- Error Source --- Formulation, Problem --- Formulations, Problem --- Group, Matched --- Groups, Matched --- Matched Group --- Method, Scoring --- Methods, Scoring --- Problem Formulations --- Proposal, Research --- Proposals, Research --- Reporting, Data --- Research Designs --- Research Proposals --- Research Strategies --- Research Technic --- Research Technique --- Scoring Method --- Source, Error --- Sources, Error --- Strategies, Research --- Strategy, Research --- Technic, Research --- Technics, Research --- Technique, Research --- Techniques, Research --- Research --- Clinical Trials Data Monitoring Committees --- Counseling, Genetic --- Genetic Counseling, Prenatal --- Prenatal Genetic Counseling --- Eugenics --- Prenatal Diagnosis --- Directive Counseling --- Research, Genetic --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- methods --- Genetic aspects
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