The Experts below are selected from a list of 23991 Experts worldwide ranked by ideXlab platform
Celia I. Kaye - One of the best experts on this subject based on the ideXlab platform.
-
Newborn Screening Fact Sheets
Pediatrics, 2006Co-Authors: Celia I. KayeAbstract:Newborn Screening fact sheets were last revised in 1996 by the American Academy of Pediatrics Committee on Genetics. This revision was prompted by advances in the field since 1996, including technologic innovations, as well as greater appreciation of ethical issues such as those surrounding informed consent. The following disorders are discussed in this revision of the Newborn Screening fact sheets: biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies, and tyrosinemia. A series of topics related to Newborn Screening is discussed in a companion publication to this electronic publication of the fact sheets (available at: www.pediatrics.org/cgi/content/full/118/3/1304). These topics are Newborn Screening as a public health system; factors contributing to the need for review of the Newborn Screening system; informed consent; tandem mass spectrometry; DNA analysis in Newborn Screening; status of Newborn Screening in the United States; and the effect of sample timing, preterm birth, diet, transfusion, and total parenteral nutrition on Newborn Screening results.
-
Introduction to the Newborn Screening fact sheets.
Pediatrics, 2006Co-Authors: Celia I. KayeAbstract:Newborn Screening fact sheets were last revised in 1996 by the Committee on Genetics of the American Academy of Pediatrics. These fact sheets have been revised again because of advances in the field, including technologic innovations such as tandem mass spectrometry, as well as greater appreciation of ethical issues such as informed consent. The fact sheets provide information to assist pediatricians and other professionals who care for children in performing their essential role within the Newborn Screening public health system. The Newborn Screening system consists of 5 parts: (1) Newborn testing; (2) follow-up of abnormal Screening results to facilitate timely diagnostic testing and management; (3) diagnostic testing; (4) disease management, which requires coordination with the medical home and genetic counseling; and (5) continuous evaluation and improvement of the Newborn Screening system. The following disorders are reviewed in the Newborn Screening fact sheets (which are available at www.pediatrics.org/cgi/content/ full/118/3/e934): biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies, and tyrosinemia.
Barbara K Burton - One of the best experts on this subject based on the ideXlab platform.
-
Newborn Screening for Pompe disease: an update, 2011.
American journal of medical genetics. Part C Seminars in medical genetics, 2012Co-Authors: Barbara K BurtonAbstract:There is mounting evidence in support of universal Newborn Screening for Pompe disease. Early treatment of children with infantile Pompe disease, prior to clinical diagnosis, is clearly of benefit in prolonging survival and improving cardiac and motor function. Several testing methods applicable to Newborn Screening using dried blood spots have been described and several are currently being tested in pilot Screening programs. Although challenges remain, particularly in identification of the best strategy for follow-up and management of later onset Pompe disease, these challenges can surely be overcome as they have been with other disorders added to the Newborn Screening panel. It is anticipated that the results of the several pilot programs currently ongoing or in the planning stages in the United States will provide the data necessary to recommend universal Newborn Screening for Pompe disease for all infants.
-
Newborn Screening for Pompe disease: an update, 2011.
American Journal of Medical Genetics Part C-seminars in Medical Genetics, 2012Co-Authors: Barbara K BurtonAbstract:There is mounting evidence in support of universal Newborn Screening for Pompe disease. Early treatment of children with infantile Pompe disease, prior to clinical diagnosis, is clearly of benefit in prolonging survival and improving cardiac and motor function. Several testing methods applicable to Newborn Screening using dried blood spots have been described and several are currently being tested in pilot Screening programs. Although challenges remain, particularly in identification of the best strategy for follow-up and management of later onset Pompe disease, these challenges can surely be overcome as they have been with other disorders added to the Newborn Screening panel. It is anticipated that the results of the several pilot programs currently ongoing or in the planning stages in the United States will provide the data necessary to recommend universal Newborn Screening for Pompe disease for all infants. © 2012 Wiley Periodicals, Inc.
Deborah Marsden - One of the best experts on this subject based on the ideXlab platform.
-
Newborn Screening of Lysosomal Storage Disorders
Clinical chemistry, 2010Co-Authors: Deborah Marsden, Harvey L. LevyAbstract:Background: Newborn Screening is a state-based public health program established as a means for the early detection and treatment of certain medical conditions to minimize developmental disability and mortality. The program was initiated more than 40 years ago to detect and prevent phenylketonuria. Recent technological advances have expanded the scope of Newborn Screening to include more than 30 inborn errors of metabolism. Consideration is now being given to inclusion of Screening for lysosomal storage disorders (LSDs). Content: Some lysosomal storage disorders (LSDs) express early in infancy or childhood and are treatable. Initiation of treatment in presymptomatic patients or in syptomatic patients before important symptoms are present may improve the long-term outcome. Therefore, early diagnosis is critical. Based on the availability of therapy and development of a Screening method, 6 of the more than 40 known LSDs are candidates for Newborn Screening in the US: Gaucher disease, Pompe disease, Fabry disease, Niemann-Pick disease, mucopolysaccharidosis I, and Krabbe disease. This report reviews the history of Newborn Screening, the technology that has allowed for expanded Screening during the last decade, LSDs and their treatment, and the evolving methods that might allow additional expansion of Newborn Screening to include certain LSDs. Summary: Recent and evolving technological advances may be implemented for Newborn Screening for LSDs. This Screening will identify presymptomatic Newborns, allowing for early treatment and prevention or limitation of morbidity otherwise associated with these inherited rare diseases.
-
Newborn Screening.
Critical reviews in clinical laboratory sciences, 2009Co-Authors: Inderneel Sahai, Deborah MarsdenAbstract:Screening Newborns for inherited disorders provides an opportunity for pre-symptomatic identification and early intervention to prevent or mitigate morbidity and mortality associated with these conditions. Since the introduction of Newborn Screening in 1962 to screen for phenylketonuria, technological advances have enabled the Screening panel to expand substantially so that it now includes more than 50 disorders. Newborn Screening will continue to evolve,, and deployment of improved methodologies and incorporation of additional disorders are expected. This article provides an overview of the current state of Newborn Screening, and describes the disorders detectable, the methodologies employed, and the challenges involved in analyses of specimens obtained from Newborns.
-
Newborn Screening for metabolic disorders.
The Journal of pediatrics, 2006Co-Authors: Deborah Marsden, Cecilia Larson, Harvey L. LevyAbstract:ur lives are often directed by chance occurrences. For Robert Guthrie, a lifelong interest in the cause of mental retardation came from a retarded son and a dedication to preventing mental retardation in phenylketonuria (PKU) came from the diagnosis of PKU in his wife’s mentally retarded niece. From these roots came Guthrie’s introduction f Newborn Screening for PKU 3 and, subsequently, to the much more inclusive Newborn Screening for metabolic disorders of oday. In this review, we endeavor to describe current Newborn Screening, the interrelationship between the public and private ectors, the range of metabolic disorders that can be covered by Screening, with emphasis on recent expansion using tandem mass pectrometry (MS/MS), the reported outcomes of identified infants, and a number of issues that confront Newborn Screening.
Harvey L. Levy - One of the best experts on this subject based on the ideXlab platform.
-
A Life in Newborn Screening
International Journal of Neonatal Screening, 2016Co-Authors: Harvey L. LevyAbstract:Newborn Screening has revolutionized the diagnosis of many disorders, notably metabolic disorders. Whereas, formerly, a clinical presentation of developmental delay or other features led to the diagnosis, usually too late for optimal treatment, today it is an abnormal finding in Newborn Screening which leads to the diagnosis and presymptomatic preventative therapy. It is my good fortune to have been involved in Newborn Screening for virtually all of my 50 years in metabolic disorders—the first 31 years with direct involvement. I have been part of the expansion of Newborn Screening from the time of the original Guthrie bacterial assays to the addition of tandem mass spectrometry. Newborn Screening continues to be a central part of my professional life. This article describes my journey in Newborn Screening as a metabolic physician and the hallmarks of this journey within the rich history of Newborn Screening.
-
Newborn Screening of Lysosomal Storage Disorders
Clinical chemistry, 2010Co-Authors: Deborah Marsden, Harvey L. LevyAbstract:Background: Newborn Screening is a state-based public health program established as a means for the early detection and treatment of certain medical conditions to minimize developmental disability and mortality. The program was initiated more than 40 years ago to detect and prevent phenylketonuria. Recent technological advances have expanded the scope of Newborn Screening to include more than 30 inborn errors of metabolism. Consideration is now being given to inclusion of Screening for lysosomal storage disorders (LSDs). Content: Some lysosomal storage disorders (LSDs) express early in infancy or childhood and are treatable. Initiation of treatment in presymptomatic patients or in syptomatic patients before important symptoms are present may improve the long-term outcome. Therefore, early diagnosis is critical. Based on the availability of therapy and development of a Screening method, 6 of the more than 40 known LSDs are candidates for Newborn Screening in the US: Gaucher disease, Pompe disease, Fabry disease, Niemann-Pick disease, mucopolysaccharidosis I, and Krabbe disease. This report reviews the history of Newborn Screening, the technology that has allowed for expanded Screening during the last decade, LSDs and their treatment, and the evolving methods that might allow additional expansion of Newborn Screening to include certain LSDs. Summary: Recent and evolving technological advances may be implemented for Newborn Screening for LSDs. This Screening will identify presymptomatic Newborns, allowing for early treatment and prevention or limitation of morbidity otherwise associated with these inherited rare diseases.
-
The clinical aspects of Newborn Screening: importance of Newborn Screening follow-up
Mental retardation and developmental disabilities research reviews, 2006Co-Authors: Philip James, Harvey L. LevyAbstract:The aim of Newborn Screening is to identify presymptomatic healthy infants that will develop significant metabolic or endocrine derangements if left undiagnosed and untreated. The goal of ultimately reducing or eliminating irreversible sequelae is reached by maximizing test sensitivity of the primary Newborn Screening that measures specific analytes by a number of methodologies. Differentiation of true from false negatives is accomplished by the test specificity. This review discusses disorders for which, in general, there are available therapies and that are detected by routine and expanded Newborn Screening. Recommendations are presented for evaluation by a primary care physician, with confirmation by a metabolic or endocrinology specialist. Disorders are organized in tabular format by class of pathway or analyte, with attention to typical clinical presentations, confirmatory biochemical and molecular tests, and therapies. There are numerous challenges in clinical follow-up, including diagnosis and appropriate understanding of the consequences of the disorders. The data required to meet these challenges can be acquired only by large scale longitudinal comprehensive studies of outcome in children identified by Newborn Screening. Only with such data can Newborn Screening fully serve families.
-
Newborn Screening for metabolic disorders.
The Journal of pediatrics, 2006Co-Authors: Deborah Marsden, Cecilia Larson, Harvey L. LevyAbstract:ur lives are often directed by chance occurrences. For Robert Guthrie, a lifelong interest in the cause of mental retardation came from a retarded son and a dedication to preventing mental retardation in phenylketonuria (PKU) came from the diagnosis of PKU in his wife’s mentally retarded niece. From these roots came Guthrie’s introduction f Newborn Screening for PKU 3 and, subsequently, to the much more inclusive Newborn Screening for metabolic disorders of oday. In this review, we endeavor to describe current Newborn Screening, the interrelationship between the public and private ectors, the range of metabolic disorders that can be covered by Screening, with emphasis on recent expansion using tandem mass pectrometry (MS/MS), the reported outcomes of identified infants, and a number of issues that confront Newborn Screening.
Bradford L. Therrell - One of the best experts on this subject based on the ideXlab platform.
-
Newborn Screening for hyperargininemia due to arginase 1 deficiency
Molecular genetics and metabolism, 2017Co-Authors: Bradford L. Therrell, Robert Currier, David Lapidus, Meredith Grimm, Stephen D. CederbaumAbstract:Abstract Hyperargininemia caused by Arginase 1 deficiency is a rare disorder of the urea cycle that can be diagnosed by elevation of arginine in Newborn Screening blood spots when analyzed by tandem mass spectrometry. Hyperargininemia is currently included as a secondary target on the U.S. Recommended Uniform Screening Panel, which directly influences state-based Newborn Screening. Because of the apparent low disease frequency and lack of case detection and treatment data, detailed attention has not been given to a model Newborn Screening algorithm including appropriate analytical cutoff values for disease indicators. In this paper we assess the frequency of hyperargininemia in the U.S. identified by Newborn Screening to date and document the current status and variability of hyperargininemia Newborn Screening across U.S. Newborn Screening programs. We also review other data that support improved Screening efficacy by utilizing the arginine/ornithine ratio and other amino acid ratios as discriminators in the Screening algorithm. Analysis of archived California Screening data showed that an arginine cutoff of 50 μM combined with an arginine/ornithine ratio of 1.4 would have resulted in a recall rate of 0.01%. Using an arginine cutoff of 60 μM and an arginine/(phenylalanine x leucine) ratio of 1.4, reportedly used in one Screening program, or the R4S Tool Runner, would have resulted in a recall rate of
-
Consolidating Newborn Screening efforts in the Asia Pacific region
Journal of Community Genetics, 2012Co-Authors: Carmencita David Padilla, Bradford L. TherrellAbstract:Many of the countries in the Asia Pacific Region, particularly those with depressed and developing economies, are just initiating Newborn Screening programs for selected metabolic and other congenital disorders. The cultural, geographic, language, and economic differences that exist throughout the region add to the challenges of developing sustainable Newborn Screening systems. There are currently more developing programs than developed programs within the region. Newborn Screening activities in the Asia Pacific Region are particularly important since births there account for approximately half of the world’s births. To date, there have been two workshops to facilitate formation of the Asia Pacific Newborn Screening Collaboratives. The 1st Workshop on Consolidating Newborn Screening Efforts in the Asia Pacific Region occurred in Cebu, Philippines, on March 30–April 1, 2008, as a satellite meeting to the 7th Asia Pacific Conference on Human Genetics. The second workshop was held on June 4–5, 2010, in Manila, Philippines. Workshop participants included key policy-makers, service providers, researchers, and consumer advocates from 11 countries with 50% or less Newborn Screening coverage. Expert lectures included experiences in the United States and the Netherlands, international quality assurance activities and ongoing and potential research activities. Additional meeting support was provided by the U.S. National Institutes of Health, the Centers for Disease Control and Prevention, the U.S. National Newborn Screening and Genetics Resource Center, the International Society for Neonatal Screening, and the March of Dimes. As part of both meeting activities, participants shared individual experiences in program implementation with formal updates of Screening information for each country. This report reviews the activities and country reports from two Workshops on Consolidating Newborn Screening Efforts in the Asia Pacific Region with emphasis on the second workshop. It also updates the literature on Screening activities and implementation/expansion challenges in the participating countries.
-
Newborn Screening in North America
Journal of Inherited Metabolic Disease, 2007Co-Authors: Bradford L. Therrell, John AdamsAbstract:Newborn Screening in North America dates to the early work of Bob Guthrie in the USA. Screening programmes in both the USA and Canada began in the early 1960s, with documented programmes in both countries as early as 1962. Throughout the 1960s and 1970s, many of the Screening tests that later became part of routine Screening around the world were developed in US and Canadian laboratories, including tests for phenylketonuria, other inborn errors of metabolism, congenital hypothyroidism, congenital adrenal hyperplasia, and haemoglobinopathies. An automated punching machine developed in the USA facilitated Screening expansion by significantly reducing sample preparation time and effort. US and Canadian programmes were leaders in applying computerized data management to Newborn Screening in the 1980s. In the 1990s, DNA and tandem mass spectrometry testing protocols were developed in the USA and applied to Newborn Screening. US programmes have continually expanded over time, while most Canadian programmes have not. With impetus from private laboratories and professional and consumer groups, many US programmes now screen for more than 50 conditions and there is increased expansion activity in Canada. NBS research in the USA is focused on improving system efficiency and translating other genetic testing to NBS, particularly where new technologies and treatment therapies exist. Although national Newborn Screening policies do not exist in either Canada or the USA, there are intense efforts to provide uniform access to Screening nationwide in both countries. New partnerships between health professionals, consumers and politicians are benefiting the overall Screening systems in both countries.
-
Newborn Screening for congenital adrenal hyperplasia
Endocrinology and Metabolism Clinics of North America, 2001Co-Authors: Bradford L. TherrellAbstract:Classic CAH (salt-wasting and simple virilizing) meets all of the recommended criteria for Newborn Screening. There are reliable and efficient Newborn Screening tests, the disorder results in high morbidity and mortality if left undetected, there is effective treatment that reduces negative outcomes, and there is a relatively high incidence. When compared with the case findings without the benefit of Screening, the data from Screening programs show reduced adrenal crises, reduced incorrect sex assignments, and reduced deaths. Racial/ethnic prevalence differences are present in Newborn Screening program data. The Texas data indicate a lower disease frequency in African-Americans when compared with Caucasians, and international data indicate higher frequencies in native Yupik Eskimos, Brazilians, residents of La Reunion, and Filipinos. When worldwide clinical ascertainment data are compared with Newborn screenng data, it is clear that Newborns with CAH (especially males) die when Screening is not done. To be effective in reducing mortality, Newborn Screening must be performed soon after birth, and the results must be available quickly so that early salt-wasting crises can be averted. It is preferable that Newborn Screening laboratiories be operational 7 days a week, and that sample delivery from the collection site to testing laboratory be as efficient as possible, including weekends and holidays, so that undue testing delays are not encountered. These two requirements pose major challenges for most programs, but they are critical to optimal Screening outcome. Based on the studies in Texas, with second Screening samples collected at approximately 2 weeks of age, some Newborns with simple virilizing CAH are missed on initial Screening using current testing protocols. There is need to set a Screening cut-off such that the false-positive rate does not oversaturate the follow-up system, in part owing to the insensitivity of current kit methodologies and the biochemical manifestations of CAH. With advances in genetic testing procedures and improved automation techniques, it may soon be possible for CAH Screening programs to include genotyping as a second-tier confirmation as a part of the Newborn Screening protocol. Despite the fact that CAH is a continuum of disorders, the correlation between genotype and phenotype is fairly consistent in most cases. For the purpose of Screening, genotyping will likely be useful only for differential diagnoses of non-salt wasters, given the necessary time constraints and expense of obtaining genotypes and the need for immediate diagnosis/treatment of salt wasters. It is hoped that Newborn Screening programs will begin to provide answers to some of these question in addition to their primary function of reducing the morbidity and mortality resulting from CAH.
