Seminars in Perinatology RSS feed: Current Issue. The purpose of each issue of Seminars in Perinatology is to provide authoritative and comprehensive reviews of a single topic of interest to professionals who care for the mother, the fetus, and the newborn. The journal's readership includes perinatologists, obstetricians, pediatricians, epidemiologists, students in these fields, and others. Each issue offers a comprehensive review of an individual topic, with emphasis on new developments that will have a direct impact on their practice. 2010 Topics , Volume 34, Issues 1-6 February Advances in Neonatal Neuroimaging Catherine Limperopoulos, MD April Newborn Screening Bradford Therrell, Jr, PhD June Neonatal Update William Oh, MD August Consensus Conference on VBAC-Part I Caroline Signore, MD, MPH October Consensus Conference on VBAC-Part II Caroline Signore, MD, MPH December Global Perinatal Health Gary Darmstadt, MDhttp://www.seminperinat.com/?rss=yesElsevier Inc.en © 2010 Published by Elsevier Inc. All rights reserved. Seminars in Perinatology0146-0005342April 2010 © 2010 Published by Elsevier Inc. All rights reserved. healthpermissions@elsevier.comhttp://www.seminperinat.com/article/PIIS0146000510000029/abstract?rss=yesCover10.1053/S0146-0005(10)00002-9Seminars in Perinatology 34, 2 (2010)2010-04-01Seminars in Perinatology2010-04-01342S0146-0005(10)X0002-7OFCOFChttp://www.seminperinat.com/article/PIIS0146000510000030/abstract?rss=yesMasthead10.1053/S0146-0005(10)00003-0Seminars in Perinatology 34, 2 (2010)2010-04-01Seminars in Perinatology2010-04-01342S0146-0005(10)X0002-7IFCIFChttp://www.seminperinat.com/article/PIIS0146000510000054/abstract?rss=yesTable of Contents10.1053/S0146-0005(10)00005-4Seminars in Perinatology 34, 2 (2010)2010-04-01Seminars in Perinatology2010-04-01342S0146-0005(10)X0002-7iihttp://www.seminperinat.com/article/PIIS0146000510000042/abstract?rss=yesTopics for 200910.1053/S0146-0005(10)00004-2Seminars in Perinatology 34, 2 (2010)2010-04-01Seminars in Perinatology2010-04-01342S0146-0005(10)X0002-7iiiihttp://www.seminperinat.com/article/PIIS0146000509001153/abstract?rss=yesSince the early 1960s, newborn screening (NBS) has been available for comparatively rare congenital conditions that can have devastating effects on newborns and their families. When Bob Guthrie developed his NBS procedure for phenylketonuria, he envisioned a process that would aid in early identification and treatment of conditions that primarily resulted in mental retardation. I am not sure that even he foresaw programs screening for more than 50 conditions by this point; particularly conditions like severe combined immunodeficiency and Krabbe disease—the former in Wisconsin and Massachusetts, and the latter in New York.IntroductionBradford L. Therrell10.1053/j.semperi.2009.12.010Seminars in Perinatology 34, 2 (2010)2010-04-01Seminars in Perinatology2010-04-01342S0146-0005(10)X0002-7103104http://www.seminperinat.com/article/PIIS0146000509001074/abstract?rss=yesNewborn screening (NBS) reaches approximately all of the 4 million newborns in the United States each year and has been effective in significantly reducing the morbidity and mortality that results from certain congenital conditions. The comprehensive NBS system can be divided into preanalytic (education and screening), analytic (laboratory testing), and postanalytic (reporting, short-term follow-up/tracking, diagnosis, treatment/management, ancillary services, and outcome evaluation) activities. To monitor and improve the screening system, there has been increasing emphasis on evaluation models. Federal sponsorship of a model performance evaluation and assessment scheme (PEAS) has resulted in a comprehensive listing of quality indicators for system self-assessment. We review the PEAS evolution process in an effort to illustrate the necessary infrastructure considerations in a well-functioning NBS system. Readers are encouraged to identify their role in the system and to interact appropriately at the local level. The comprehensive PEAS indicator list is provided as an .Newborn Screening System Performance Evaluation Assessment Scheme (PEAS)Bradford L. Therrell, Marion Schwartz, Carol Southard, Donna Williams, W. Harry Hannon, Marie Y. Mann, PEAS Organizing and Working Groups10.1053/j.semperi.2009.12.002Seminars in Perinatology 34, 2 (2010)2010-04-01Seminars in Perinatology2010-04-01342S0146-0005(10)X0002-7105120http://www.seminperinat.com/article/PIIS0146000509001098/abstract?rss=yesFederal advisory committees (or commissions, councils, or task forces) are created either by congressional action or a federal department to bring together a variety of viewpoints on specific policy issues. The committees or advisory bodies are generally directed to advise various bodies within the government, either by congressional mandate, government decree, or executive order. The committees are often created to aid the government in subject matters with difficult issues. In the Department of Health and Human Services (HHS), current advisory committees range from advising the Secretary, Department of Health and Human Services, on immunization practices, to organ donation, blood safety, to issues related to newborn and child screening. This article describes the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Its history offers insight into connection of the development of policy guidelines and the creation of legislation to implement that policy. Its current activities have affected and will continue to affect not only state newborn screening programs but also the policy and practice of screening children for heritable disorders.From Developing Guidelines to Implementing Legislation: Actions of the US Advisory Committee on Heritable Disorders in Newborns and Children Toward Advancing and Improving Newborn ScreeningR. Rodney Howell, Michele A. Lloyd-Puryear10.1053/j.semperi.2009.12.004Seminars in Perinatology 34, 2 (2010)2010-04-01Seminars in Perinatology2010-04-01342S0146-0005(10)X0002-7121124http://www.seminperinat.com/article/PIIS0146000509001086/abstract?rss=yesNewborn screening is the largest population-based genetic screening effort in the United States. The detection of treatable, inherited congenital disorders is a major public health responsibility. The Centers for Disease Control and Prevention's (CDC's) Newborn Screening Quality Assurance Program helps newborn screening laboratories ensure that testing accurately detects these disorders, does not delay diagnosis, minimizes false-positive reports, and sustains high-quality performance. For over 30 years, the CDC's Newborn Screening Quality Assurance Program has performed this essential public health service, ensuring the quality and accuracy of screening tests for more than 4 million infants born each year in the United States and millions more worldwide. The Program has grown from 1 disorder in 1978 for 31 participants to more than 50 disorders for 459 participants in 2009. This report reviews the Program's milestones and services to the newborn screening community.Improving and Assuring Newborn Screening Laboratory Quality Worldwide: 30-Year Experience at the Centers for Disease Control and PreventionVíctor R. De Jesús, Joanne V. Mei, Carol J. Bell, W. Harry Hannon10.1053/j.semperi.2009.12.003Seminars in Perinatology 34, 2 (2010)2010-04-01Seminars in Perinatology2010-04-01342S0146-0005(10)X0002-7125133http://www.seminperinat.com/article/PIIS0146000509001116/abstract?rss=yesThe impact of hemoglobinopathies on healthcare in the United States, particularly sickle cell disease (SCD), has been significant. Enactment of the Sickle Cell Anemia Control Act in 1972 significantly increased the federal interest in the SCDs and other hemoglobinopathies. Only since May 1, 2006, have all states required and provided universal newborn screening for SCD despite a national recommendation to this effect in 1987. In this article, we review the history of screening for SCD and other hemoglobinopathies, along with federal and state activities that have contributed to improved health outcomes for patients with SCD, as well as current newborn screening practices. We also chronicle the federal activities that have helped to shape and to refine laboratory screening and diagnostic proficiency. Finally, we review molecular testing strategies that have evolved and outline their possible future impacts on disease detection and outcome improvement.History and Current Status of Newborn Screening for HemoglobinopathiesJane M. Benson, Bradford L. Therrell10.1053/j.semperi.2009.12.006Seminars in Perinatology 34, 2 (2010)2010-04-01Seminars in Perinatology2010-04-01342S0146-0005(10)X0002-7134144http://www.seminperinat.com/article/PIIS0146000509001128/abstract?rss=yesNewborn screening is an important public health measure aimed at early identification and management of affected newborns thereby lowering infant morbidity and mortality. It is a comprehensive system of education, screening, follow-up, diagnosis, treatment/management, and evaluation that must be institutionalized and sustained within public health systems often challenged by economic, political, and cultural considerations. As a result, developing countries face unique challenges in implementing and expanding newborn screening that can be grouped into the following categories: (1) planning, (2) leadership, (3) medical support, (4) technical support, (5) logistical support, (6) education, (7) protocol and policy development, (8) administration, (9) evaluation, and (10) sustainability. We review some of the experiences in overcoming implementation challenges in developing newborn screening programs, and discuss recent efforts to encourage increased newborn screening through support networking and information exchange activities in 2 regions—the Asia Pacific and the Middle East/North Africa.Newborn Screening Progress in Developing Countries—Overcoming Internal BarriersCarmencita D. Padilla, Danuta Krotoski, Bradford L. Therrell10.1053/j.semperi.2009.12.007Seminars in Perinatology 34, 2 (2010)2010-04-01Seminars in Perinatology2010-04-01342S0146-0005(10)X0002-7145155http://www.seminperinat.com/article/PIIS0146000509001104/abstract?rss=yesA variety of efforts are underway at national, state, regional, and local levels to enhance the performance of programs for early detection of inherited diseases and conditions of newborn infants. Newborn screening programs serve a vital purpose in identifying nonsymptomatic clinical conditions and enabling early intervention strategies that lessen morbidity and mortality. Currently, the programs of most intense focus are early hearing detection and intervention, using physiological techniques for audiology screening and use of newborn dried blood spots for detection of metabolites or proteins representing inherited disorders. One of the primary challenges to effective newborn screening programs to date has been the inability to provide information in a timely and easily accessible way to a variety of users. Other challenging communication issues being faced include the complexity introduced by the diversity of conditions for which testing is conducted and laboratory methods being used by each state's screening programs, lack of an electronic information infrastructure to facilitate information exchange, and variation in policies that enable access to information while protecting patient privacy and confidentiality. In this study, we address steps being taken to understand these challenges, outline progress made to date to overcome them, and provide examples of how electronic health information exchange will enhance the utility of newborn screening. It is likely that future advances in science and technology will bring many more opportunities to prevent and preempt disabilities among children through early detection programs. To take their advantage, effective communication strategies are needed among the public health, primary care practice, referral/specialty service, and consumer advocacy communities to provide continuity of information required for medical decision-making throughout prenatal, newborn, and early childhood periods of patient care.Enhancing the Quality and Efficiency of Newborn Screening Programs Through the Use of Health Information TechnologyGregory J. Downing, Alan E. Zuckerman, Constanze Coon, Michele A. Lloyd-Puryear10.1053/j.semperi.2009.12.005Seminars in Perinatology 34, 2 (2010)2010-04-01Seminars in Perinatology2010-04-01342S0146-0005(10)X0002-7156162http://www.seminperinat.com/article/PIIS014600050900113X/abstract?rss=yesExpansion of newborn screening for inherited metabolic disorders using tandem mass spectrometry has generated interest in screening for other treatable conditions, including lysosomal storage diseases. Limitations to expansion include labor and equipment costs. We describe a cost-effective new platform that reduces the time to result reporting and can perform multiplexing assays requiring different platforms. Immunoassays and enzyme activity assays currently used in newborn screening have been translated to a disposable microchip programmed to dispense, transport, mix, wash, and incubate individual microdroplets from specimens, including dried blood spot extracts, and reagents all under software control. The specimen and reagents consumed are approximately 1% of those required by equivalent bench assays. In addition to immunologic and enzymatic assays, DNA amplification, amplicon detection, and sequencing have been demonstrated using the same microchips and control equipment. Recently, the multiplexing of 4 different enzyme activities has also been demonstrated with negligible cross-contamination. We review assays relevant to newborn screening.Digital Microfluidics: A Future Technology in the Newborn Screening Laboratory?David S. Millington, Ramakrishna Sista, Allen Eckhardt, Jeremy Rouse, Deeksha Bali, Ronald Goldberg, Michael Cotten, Rebecca Buckley, Vamsee Pamula10.1053/j.semperi.2009.12.008Seminars in Perinatology 34, 2 (2010)2010-04-01Seminars in Perinatology2010-04-01342S0146-0005(10)X0002-7163169http://www.seminperinat.com/article/PIIS0146000509001141/abstract?rss=yesIdentifying and treating children with congenital hearing loss during the first few months of life is a relatively new concept. To assist states in the development of statewide Early Hearing Detection and Intervention programs, the federal government provides grants and/or cooperative agreements to almost all states and has established “National Goals, Program Objectives and Performance Measures” to guide the development and implementation of those systems. This article reviews the history of newborn hearing screening programs in the United States, summarizes the content of legislation and regulations passed by states related to universal newborn hearing screening, and describes how well each National Goal has been addressed. Although substantial progress has been made in the percentage of infants screened for hearing loss before hospital discharge, significant improvement is needed with respect to the availability of pediatric audiologists, implementation of effective tracking and data management systems, program evaluation and quality assurance, availability of appropriate early intervention programs, and linkages with medical home providers.The Evolution of Early Hearing Detection and Intervention Programs in the United StatesKarl R. White, Irene Forsman, John Eichwald, Karen Munoz10.1053/j.semperi.2009.12.009Seminars in Perinatology 34, 2 (2010)2010-04-01Seminars in Perinatology2010-04-01342S0146-0005(10)X0002-7170179