89 research outputs found

    Prenatal Diagnosis of Down Syndrome

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    The chapter’s contribution to the book explores the prenatal modalities to diagnose Down syndrome (DS). The current knowledge in the field of genetic sonographic markers is presented, along the performance of current policies as well as the potential of new emerging genetic techniques. Besides the screening or testing pregnancy algorithms, the chapter describes the power of prenatal diagnostic techniques, namely, the advantages and the complications of the invasive genetic maneuvers. The progress in prenatal diagnosis of Down syndrome is one of the most important in prenatal medicine in the last decades. The methods vary in terms of detection rates, acceptability, costs, and potential complications. Although the early genetic screening was improved, ultrasound evaluation should not be dismissed, as the first-trimester sonography has the potential to diagnose the majority of major fetal abnormalities

    The Future of Physicians’ First Amendment Freedom: Professional Speech in an Era of Radically Expanded Prenatal Genetic Testing

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    This Article explores the First Amendment questions prenatal whole genome sequencing (PWGS) is likely to raise. It argues that most of the foreseeable options for state intervention in conversations between physicians and prospective parents about genetic sequencing should trigger at least heightened scrutiny. Part I provides an overview of the most recent advances in genetic testing. It assesses the ongoing impact of non-invasive prenatal testing (NIPT) for providers and patients and charts the course from NIPT to PWGS. Part II establishes a foundational background for evaluating First Amendment claims. Part II.A describes the development of First Amendment jurisprudence, focusing on the doctrinal distinctions between levels of judicial scrutiny. Part II.B explores historical Supreme Court case law addressing professional speech. Part III surveys the current legal landscape. Using a handful of recent Circuit cases, Part III.A demonstrates that the legal frameworks for assessing physician speech qua professional speech are shambolic. Part III.B provides an overview of the most recent Supreme Court ruling on professional speech in the 2018 case National Institute of Family and Life Advocates v. Becerra. Part IV uses the material in Parts I–III to predict how legislative efforts to limit reproductive decision-making are likely to manifest in the PWGS context. Based on the case analyses in Part III, Part IV identifies the Fourth and Eleventh Circuit approaches as the most defensible for future judicial interventions. This Article concludes that state-based restrictions on PWGS-related speech would be vulnerable to First Amendment challenges and unlikely to survive heightened judicial scrutiny

    What Does Choice Really Mean?: Prenatal Testing, Disability, and Special Education Without Illusions

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    Down Syndrome

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    Down syndrome, the most cutting-edge book in the field congenital disorders. This book features up-to-date, well referenced research and review articles on Down syndrome. Research workers, scientists, medical graduates and pediatricians will find it to be an excellent source for references and review. It is hoped that such individuals will view this book as a resource that can be consulted during all stages of their research and clinical investigations. Key features of this book are: Common diseases in Down syndrome Molecular Genetics Neurological Disorders Prenatal Diagnosis and Genetic Counselling Whilst aimed primarily at research workers on Down syndrome, we hope that the appeal of this book will extend beyond the narrow confines of academic interest and be of interest to a wider audience, especially parents, relatives and health-care providers who work with infants and children with Down syndrome

    Ultrasound Imaging

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    This book provides an overview of ultrafast ultrasound imaging, 3D high-quality ultrasonic imaging, correction of phase aberrations in medical ultrasound images, etc. Several interesting medical and clinical applications areas are also discussed in the book, like the use of three dimensional ultrasound imaging in evaluation of Asherman's syndrome, the role of 3D ultrasound in assessment of endometrial receptivity and follicular vascularity to predict the quality oocyte, ultrasound imaging in vascular diseases and the fetal palate, clinical application of ultrasound molecular imaging, Doppler abdominal ultrasound in small animals and so on

    Down Syndrome and Other Chromosome Abnormalities

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    This book provides a concise yet comprehensive source of current information on Down syndrome and other chromosomal abnormalities. Research workers, scientists, medical graduates and paediatricians will find it an excellent source for reference and review. Key features of this book are as follows: • Mechanisms of aneuploidy. • Effect of sociodemographic factors on different congenital disorders. • Haematological malignancies and congenital heart disease in Down syndrome. • Prenatal screening, management and counselling to detect Down syndrome and other chromosomal abnormalities. While aimed primarily at research workers on Down syndrome and different types of chromosomal disorders, we hope that the appeal of this book will extend beyond the narrow confines of academic interest and be of interest to a wider audience, especially the parents and relatives of children suffering from Down syndrome and other chromosomal abnormality syndromes
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