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Challenges and Opportunities in Using Residual Newborn Screening Samples for Translational Research

Author: Institute of Medicine

Publisher: National Academies Press

Published: 2010-11-23

Total Pages: 85

ISBN-13: 0309177138

Newborn screening samples are used to test more than 4 million infants each year for life-threatening diseases that are treatable if found at birth. These specimens also represent a potentially invaluable resource for public health and biomedical research. The IOM held a workshop to examine issues surrounding the use of residual specimens for translational research.

Prevention of Thalassaemias and Other Haemoglobin Disorders

Author: Galanello Renzo

Publisher:

Published: 2003

Total Pages: 190

ISBN-13: 9789963623396

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Volume 1 of the Prevention Book presents the principles of a programme for the prevention of the thalassaemia and other haemoglobin disorders, including a description of the various types of disorders requiring prenatal diagnosis, the strategies used for carrier screening, and a number of annexes listing upto date epidemiological and mutation data on thalassaemia. This book was written for use in combination with Volume 2, which describes many of the laboratory protocols in great detail.

Testing Baby

Author: Rachel Grob

Publisher: Rutgers University Press

Published: 2011-09-01

Total Pages: 291

ISBN-13: 0813552028

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Within forty-eight hours after birth, the heel of every baby in the United States has been pricked and the blood sent for compulsory screening to detect or rule out a large number of disorders. Newborn screening is expanding rapidly, fueled by the prospect of saving lives. Yet many lives are also changed by it in ways not yet recognized. Testing Baby is the first book to draw on parents’ experiences with newborn screening in order to examine its far-reaching sociological consequences. Rachel Grob’s cautionary tale also explores the powerful ways that parents’ narratives have shaped this emotionally charged policy arena. Newborn screening occurs almost always without parents’ consent and often without their knowledge or understanding, yet it has the power to alter such things as family dynamics at the household level, the context of parenting, the way we manage disease identity, and how parents’ interests are understood and solicited in policy debates.

Saving Babies?

Author: Stefan Timmermans

Publisher: University of Chicago Press

Published: 2015-05-06

Total Pages: 320

ISBN-13: 022627361X

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Introduction: the consequences of newborn screening -- The expansion of newborn screening -- Patients-in-waiting -- Shifting disease ontologies -- Is my baby normal? -- The limits of prevention -- Does expanded newborn screening save lives? -- Conclusion: the future of expanded newborn screening

Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies

Author: Stephan Lobitz

Publisher: MDPI

Published: 2019-10-07

Total Pages: 160

ISBN-13: 3039216147

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Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies is a Special Issue of the International Journal of Neonatal Screening. Sickle cell disease is one of the most common inherited blood disorders, with a huge impact on health care systems due to high morbidity and high mortality associated with the undiagnosed disease. Newborn screening helps to make the diagnosis early and to prevent fatal complications and diagnostic odysseys. This book gives an overview of diagnostic standards in newborn screening for sickle cell disease and examples of existing newborn screening programs.

Neonatal Screening for Inborn Errors of Metabolism

Author: H. Bickel

Publisher: Springer

Published: 2011-11-15

Total Pages: 0

ISBN-13: 9783642674907

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Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.

Neonatal Hematology

Author: Pedro A. de Alarcón

Publisher: Cambridge University Press

Published: 2021-02-18

Total Pages: 501

ISBN-13: 1108488986

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An essential guide to the pathogenesis, diagnosis and management of hematologic problems in the neonate, covering erythrocyte disorders, leukocyte disorders, immunologic disorders and hemostatic disorders. Guidance is practical, including blood test interpretation, advice on transfusions and reference ranges for hematological values.

Inborn Errors of Metabolism

Author: Brendan Lee

Publisher: Oxford Monographs on Medical G

Published: 2014-10-13

Total Pages: 393

ISBN-13: 0199797587

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This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.

Newborn Screening Systems

Author: Carlie J. Driscoll

Publisher: Plural Publishing

Published: 2010-02-15

Total Pages: 249

ISBN-13: 1597567647

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Testing Baby

Author: Rachel Grob

Publisher: Critical Issues in Health and

Published: 2011

Total Pages: 0

ISBN-13: 9780813551364

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Testing Baby is the first book to draw on parents' experiences with newborn screening in order to examine its far-reaching sociological consequences. Newborn screening occurs almost always without parents' consent and often without their knowledge or understanding, yet it has the power to alter such things as family dynamics at the household level, the context of parenting, the way we manage disease identity, and how parents' interests are understood and solicited in policy debates. Rachel Grob's cautionary tale explores the powerful ways that parents' narratives have shaped this emotionally charged policy arena.