Newborn Screening Bibliography

Annotation: This bochure describes the importance of newborn screening in the early detection of heritable and genetic conditions that may otherwise be hidden in infancy or early childhood. It outlines the history of newborn screening in the United States in the past 50 years, the importance of blood-spot samples from every newborn being screened by a laboratory, the public health success of newborn screening, the economic benefits of early detection of conditions, the success of pre-discharge hearing and heart screening, and the importance of evolving and improving newborn screening. The brochure contains tables describing the most common disorders screened for and partners in the screening process. It also provides several vignettes of people who were diagnosed with various conditions and were able to lead healthy lives because their conditions could be treated if diagnosed early.

Contact: Association of Public Health Laboratories, 8515 Georgia Avenue, Suite 700 , Silver Spring, MD 20910, Telephone: (240) 485-2745 Secondary Telephone: (240) 485-2747 Fax: (240) 485-2700 E-mail: [email protected] Web Site: http://www.aphl.org Available from the website.

• PDF

Keywords: Blood tests, Genetic screening, Hearing tests, Neonatal screening, Newborn infants, Screening tests

Annotation: This brochure explains the importance of newborn screening for new parents. It discusses national and state testing practices so that parents will know early about potential life threatening illnesses or disabilities to their baby.

Contact: Association of Public Health Laboratories, 8515 Georgia Avenue, Suite 700 , Silver Spring, MD 20910, Telephone: (240) 485-2745 Secondary Telephone: (240) 485-2747 Fax: (240) 485-2700 E-mail: [email protected] Web Site: http://www.aphl.org Available from the website.

• PDF

Keywords: Consumer education materials, Neonatal screening, Newborn infants, Screening tests

Annotation: This webinar focuses on the point-of-care screening recommendations for critical congenital heart disease ((CCHD) and the potential roles of state health departments. The presentations include considerations for roles of state health departments with CCHD screening, an overview of state activities, and lessons learned from New Jersey’s experience with implementing mandated screening. The webinar recording, as well as the slides used by the presenters, can be accessed from the website.

Contact: Association of Maternal and Child Health Programs, 1825 K Street, N.W., Suite 250, Washington, DC 20006-1202, Telephone: (202) 775-0436 Fax: (202) 478-5120 E-mail: [email protected] Web Site: http://www.amchp.org Available from the website.

• Full Webinar Recording
• Presenter Slides

Keywords: Congenital heart defects, Multimedia, Neonatal screening, Newborn infants, Program improvement, State programs

Annotation: This online videorecording focuses on the high number of infants in the United States who are diagnosed with hearing loss but who fail to receive any follow-up treatment. The video demonstrates how partners in the Improving Hearing Screening & Interventions System (IHSIS) project are working together to better the hearing screening and intervention process using systematic quality improvement methods. It also shows the ways in which parents, hearing screening services, audiologists, and quality improvement experts are working to streamline communication between different parts of the healthcare system to ensure effective hearing screening follow-up for infants. Examples from program partners in the states of Louisiana, Idaho, and Alaska are included. [Funded by the Maternal and Child Health Bureau]

Contact: National Institute for Children's Health Quality, 30 Winter Street, Sixth Floor, Boston, MA 02108, Telephone: (617) 391-2700 Secondary Telephone: (866) 787-0832 Fax: (617) 391-2701 E-mail: [email protected] Web Site: http://www.nichq.org Available from the website.

• Link

Keywords: Health care systems, Hearing screening, Infant health, Multimedia, Program improvement, Quality assurance

Annotation: In this online video recording, members of the Improving Hearing Screening & Intervention Systems (IHSIS) Learning Collaborative talk about their experiences improving newborn hearing screening and intervention services. Members of the Collaborative from the states of Alaska, Georgia, Ohio, Colorado, and Mississippi describe some of the challenges they've faced and the ways that they've been able to increase the numbers of newborns that receive screening and follow-up services. The video was recorded during an IHSIS learning session that took place in Denver, Colorado in November 2011. [Funded by the Maternal and Child Health Bureau]

Contact: National Institute for Children's Health Quality, 30 Winter Street, Sixth Floor, Boston, MA 02108, Telephone: (617) 391-2700 Secondary Telephone: (866) 787-0832 Fax: (617) 391-2701 E-mail: [email protected] Web Site: http://www.nichq.org Available from the website.

• Link

Keywords: Collaboration, Health care systems, Hearing screening, Intervention, Multimedia, Neonatal screening, Newborn infants, Program improvement, Quality assurance, State initiatives

Annotation: This annual report describes the Nebraska program for newborn screening for inborn errors of metabolism and inherited disorders. Contents include sections on major initiatives, process and output data, plans, continuing activities. Additional sections review the newborn hearing screening system and data as well as additional projects and summaries. [Funded by the Maternal and Child Health Bureau]

Contact: Nebraska Department of Health and Human Services, P.O. Box 95026, Lincoln, NE 68509-5026, Telephone: (402) 471-3121 E-mail: [email protected] Web Site: http://www.dhhs.ne.gov Available from the website.

• 2011 Full Report

Keywords: Genetic screening, Hearing screening, Nebraska, Neonatal screening, Newborn infants, State programs

Annotation: This video for parents and expectant parents, which is available in English and Spanish, present opinions of experts and parents on the newborn screening process. It depicts how screenings are conducted, what happens afterwards, and how newborn screening results are used. State screening policies are discussed, and parents' concerns about newborn screening are addressed. Resources for more information are provided.

Contact: Save Babies Through Screening Foundation, P.O. Box 42197, Cincinnati, OH 45242, Telephone: (888) 454-3383 E-mail: [email protected] Web Site: http://savebabies.org Available at no charge; also available from the website.

• Link

Keywords: Consumer information materials, DVDs, Genetic disorders, Infant health, Multimedia, Neonatal screening, Prevention, Spanish language materials

Annotation: This guide provides information to help health professionals in the state of Wisconsin comply with state requirements regarding the screening of infants for congenital or metabolic disorders and to better understand the Wisconsin Newborn Screening Program. The guide presents step-by-step guidelines on testing (including blood collection, specimen handling, and laboratory testing) and lists and describes the various newborn screening disorders (including symptoms and treatment). It explains how Wisconsin's screening program is funded; lists contact information for treatment centers; and provides the text of the state of Wisconsin's newborn screening statute.

Contact: Wisconsin Newborn Screening Laboratory, University of Wisconsin at Madison, 465 Henry Mall, Madison, WI 53706, Telephone: (608) 262-1293 Fax: (608) 262-3257 Web Site: http://www.slh.wisc.edu Available from the website.

• Guide
• Website

Keywords: Blood tests, Disorders, Infant health, Neonatal screening, Newborn infants, State legislation, State programs, Wisconsin

Annotation: This e-book discusses the foundation and evolution of early hearing detection and intervention, newborn hearing screening, tracking and follow-up, assessment of young children, parent counseling in the Internet age, assistive devices, early intervention, family support and cultural competence, quality assurance and improvement, financing and sustainability, information management, and early childhood screening. Chapters can be downloaded individually and will be updated as needed. The book can also be obtained on CD. [Funded in part by the Maternal and Child Health Bureau]

Contact: National Resource Center for Early Hearing Detection and Intervention, National Center for Hearing Assessment and Management, Utah State University, 2880 Old Main Hill, Logan, UT 84322, Telephone: (435) 797-3584 E-mail: [email protected] Web Site: http://www.infanthearing.org/tas/index.html Available from the website.

• Link

Keywords: Cultural competence, Early intervention, Family support, Financing, Hearing disorders, Hearing screening, Hearing tests, Infants, Parent education, Parents, Quality assurance, Young children

Annotation: This website provides information about the 2010 Newborn Screening and Genetic Testing Symposium held in Orlando, Florida, on May 3-6, 2010. The symposium brought together almost 400 laboratories, follow-up professionals, and metabolic specialists from around the world. The site presents the symposium schedule and provides links for presentations that have been authorized for posting. Meeting session topics included health information technology, education, program quality improvement, laboratory quality improvement, international perspectives, old conditions, new information, and candidate conditions.

Contact: Association of Public Health Laboratories, 8515 Georgia Avenue, Suite 700 , Silver Spring, MD 20910, Telephone: (240) 485-2745 Secondary Telephone: (240) 485-2747 Fax: (240) 485-2700 E-mail: [email protected] Web Site: http://www.aphl.org Available from the website.

• Link

Keywords: Conference proceedings, Education, Genetic testing, Health, Information, Laboratory techniques, Neonatal screening, Programs, Technology

Annotation: This report discusses the history of newborn screening and genetic services in the United States. It discusses the development of the state-based newborn screening programs, highlights conditions for which tests exist, and lists the average number of newborn screening conditions required in United States programs. [Funded by the Maternal and Child Health Bureau]

Contact: U.S. Health Resources and Services Administration, 5600 Fishers Lane, Rockville, MD 20857, Telephone: (888) 275-4772 Secondary Telephone: (877) 464-4772 Fax: (301) 443-1246 E-mail: [email protected] Web Site: http://www.hrsa.gov Available from the website.

• PDF

Keywords: Genetic screening, History, Neonatal screening, Newborn infants, State MCH programs

Annotation: The purposes of this paper are to (1) review the issues facing state newborn screening programs related to the retention and use of residual dried blood spot specimens and (2) to lay the foundation for developing national guidance to states in this area. Topics include ethical, legal, and social issues; education, awareness, and ensuring the public trust; and financial considerations. [Funded by the Maternal and Child Health Bureau]

Contact: U.S. Advisory Committee on Heritable Disorders in Newborns and Children, U.S. Maternal and Child Health Bureau, Parklawn Building, 5600 Fishers Lane, Rockville, MD 20857, Telephone: (301) 443-1080 Web Site: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/ Available from the website.

• PDF

Keywords: Education, Ethics, Financing, Guidelines, Legal issues, Neonatal screening, Programs

Annotation: This web resource provides information from the 2009 Newborn Screening Summit held on December 7-8, 2009, in Bethesda, Maryland. Summit topics included family perspectives; technology; information and risk communication; advocacy; storage and use of residual blood spots; decision-making in public, population, and private health; childhood screening; effective follow-up; health information exchange; the newborn screening system clearinghouse, portal, and transitional network; pros and cons of consent; benefit in newborn and childhood screening; defining abnormal; and strategic thinking about newborn screening. The site provides links to the summit agenda, a webcast recording, and materials.

Contact: Genetic Alliance, 4301 Connecticut Avenue, N.W., Suite 404, Washington, DC 20008-2369, Telephone: (202) 966-5557 Secondary Telephone: (800) 336-GENE Fax: (202) 966-8553 E-mail: [email protected] Web Site: http://www.geneticalliance.org Available from the website.

• Link

Keywords: Advocacy, Children, Communication, Conference proceedings, Consent, Decision-making, Families, Health, Infants, Neonatal screening, Public health, Screening, Technology

Annotation: This document from the U.S. Senate Committee on Health, Education, Labor, and Pensions, reports on the hearing and deliberations of Senate Bill S.1858, the Newborn Screening Saves Lives Act of 2007, to amend the Public Health Service Act to establish grant programs to provide for education and outreach on newborn screening and coordinated followup care once newborn screening has been conducted, to reauthorize programs under part A of title XI of such Act, and for other purposes. Contents include the purpose and need for the legislation, a summary, a history of the legislation and votes in the Committee, explanations of the bill and Committee views, provides a cost estimate, reviews the application of law to the Legislative Branch, provides a regulatory impact statement and a section-by-section analysis, and changes in existing law. Related information on the bill's summary and status and full-text are also provided on the Web site.

Contact: U.S. Government Publishing Office, 732 North Capitol Street, N.W., Washington, DC 20401, Telephone: (202) 512-1800 Secondary Telephone: (866) 512-1800 Fax: (202) 512-2104 E-mail: [email protected] Web Site: http://www.gpo.gov Available from the website.

• Html Version

Keywords: Congressional committees, Costs, Federal legislation, Neonatal screening, Newborn infants

Annotation: This document provides the full-text of the Newborn Screening Saves Lives Act, as amended and passed, to amend the Public Health Service Act to establish grant programs to provide for education and outreach on newborn screening and coordinated followup care once newborn screening has been conducted, to reauthorize programs under part A of title XI of such Act, and for other purposes.

Contact: U.S. Government Publishing Office, 732 North Capitol Street, N.W., Washington, DC 20401, Telephone: (202) 512-1800 Secondary Telephone: (866) 512-1800 Fax: (202) 512-2104 E-mail: [email protected] Web Site: http://www.gpo.gov Available from the website.

• Html Version
• Pdf Version

Keywords: Federal legislation, Neonatal screening, Newborn infants

Annotation: This manual for heath professionals provides information about Delaware's newborn screening program. The manual provides background information about newborn screening and about the program, lists staff and contact information, provides information about disorders that are screened for in the state, and offers screening form information, newborn screening program requirements, and specimen timing and specimen collection information.

Contact: Delaware Health and Social Services, Division of Public Health, Jesse Cooper Building, 417 Federal Street, Dover, DE 19901, Telephone: (302) 744-4700 Secondary Telephone: (888) 459-2943 Fax: (302) 739-6659 E-mail: [email protected] Web Site: http://www.dhss.delaware.gov/dhss/dph/ Available from the website.

• PDF

Keywords: Delaware, Disorders, Neonatal screening, State programs

Annotation: This booklet is designed to help prenatal educators inform expectant parents about newborn screening. The booklet provides background information about newborn screening and discusses what parents need to know, credible resources for parents, the 29 disorders recommended for screening by the American College of Medical Genetics, and activities to incorporate into classes. A card about newborn screening that can be cut out and and placed in a baby book is included. [Funded by the Maternal and Child Health Bureau]

Contact: New England Genetics Collaborative , , 10 West Edge Drive, Suite 101, Durham, NH 03284, Telephone: (603) 653-6044 Web Site: http://www.negenetics.org Available from the website.

• PDF

Keywords: Consumer education materials, Diagnosis, Genetic disorders, Neonatal screening, Newborn infants, Parent education, Parent education programs

Annotation: This document describes (1) the current practice of newborn screening and the ethical challenges that come from trying to reap the benefits of screening while minimizing the harm; (2) the guiding ethical principles of the last forty years, and the debate concerning their alteration; (3) a vision of the future of newborn screening given the advances of genomic medicine; and (4) the controversy over whether states should have mandatory screening programs, elective programs, or some combination of the two. The document concludes with personal statements by prominent experts in the field of newborn screening.

Contact: President's Council on Bioethics, 1425 New York Avenue, N.W.***DEFUNCT***, Washington, DC 20005, Telephone: (202) 296-4669 E-mail: [email protected] Available from the website.

• Full Report
• Appendix

Keywords: Ethics, Genetic screening, Neonatal screening, Newborn infants, Program evaluation, Public policy

Annotation: This final report describes a project in Michigan from 2002-2006 to improve genetic health outcomes of Michigan residents by implementing portions of the state genetics plan. Objectives described include (1) increasing genetic literacy and improving family and health care provider access to information about resources and services for children with special health care needs; (2) expanding methods of early identification of children with special health care needs; and (3) integrating newborn screening with other maternal child health data and service delivery systems to promote linkage with intervention services including the medical home. Report contents include an overview of the project's original goals and objectives, methodology, accomplishments, evaluation, lessons learned, future plans and next steps, and plans for sustainability. Also included are a list of peer reviewed publications and presentations, products developed during the project, and appendices with samples of publications and presentations. [Funded by the Maternal and Child Health Bureau]

Contact: Maternal and Child Health Library at Georgetown University, E-mail: [email protected] Web Site: https://www.mchlibrary.org

Keywords: Children with special health care needs, Early intervention, Final reports, Genetic counseling, Genetic screening, MCH services, Michigan, Neonatal screening, Program descriptions, Service integration, State programs, Strategic plans

Annotation: This final report focuses on the Universal Newborn Hearing Screening and Intervention (UNSHI) program created following legislation passed by Congress in 1999. The report presents the results of an analysis of survey data from all UNSHI programs receiving funding from the Maternal and Child Health Bureau and on information collected during site visits. The report includes 10 chapters discussing a rationale for newborn hearing screening; study methods; program outcomes, models, and development; how program are building service system capacity and working to improve provider knowledge; challenges families have in obtaining services; and data and tracking systems. [Funded by the Maternal and Child Health Bureau]

Contact: Maternal and Child Health Library at Georgetown University, E-mail: [email protected] Web Site: https://www.mchlibrary.org

Keywords: Access to care, Evaluation, Federal programs, Final reports, Health services delivery, Hearing screening, Intervention, Neonatal screening, Outcome evaluation, Program development, Site visits, State programs

Annotation: This paper for the Subcommittee on Follow-up and Treatment of the AdvisoryCommittee on Heritable Disorders and Genetic Diseases in Newborns and Children summarizes a meeting held on April 18, 2007, to discuss developing and implementing a system for long-term follow-up care for children with health problems identified through newborn screening. The paper discusses the purpose of the meeting, introduces the white paper, and discusses small group breakout and summary plenary discussions, plenary discussions, and next steps and wrap-ups. [Funded by the Maternal and Child Health Bureau]

Contact: U.S. Advisory Committee on Heritable Disorders in Newborns and Children, U.S. Maternal and Child Health Bureau, Parklawn Building, 5600 Fishers Lane, Rockville, MD 20857, Telephone: (301) 443-1080 Web Site: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/ Available from the website.

• PDF

Keywords: Conference proceedings, Child health, Children with special health care needs, Infant health, Long term care, Neonatal screening, Treatment

Annotation: This guide describes the metabolic and genetic newborn screening program in Tennessee. Topics covered include (1) Tennessee law; (2) excerpts taken from rules and regulations; (3) hospital responsibility; (4) state laboratory and maternal and child newborn screening follow-up section responsibilities; (5) weekend and holiday calls; (6) primary care provider responsibilities and follow-up; (7) list of endocrinologists, genetic, and sickle cell centers; and (8) metabolic and genetic disorders.

Contact: Tennessee Department of Health, Maternal and Child Health Section , Fifth Floor, Cordell Hull Building, 425 Fifth Avenue, North, Nashville, TN 37247, Telephone: (615) 741-7353 Fax: (615) 741-1063 E-mail: Theodora. [email protected] Web Site: http://www.state.tn.us/health/ Available from the website.

• PDF

Keywords: Genetic disorders, Genetic screening, Hospitals, Legislation, Metabolic diseases, Neonatal screening, Primary care, Screening tests, State programs, Tennessee

Annotation: This report describes a project in Brooklyn, NY from 2002-2006 to broaden education, community-based screening and genetic counseling, and to increase the reach of at-risk community members who lack understanding of the impact of sickle cell disease upon their communities. Contents include an overview of the program needs and goals and objectives, progress to date, efforts in the communities, and the consortium and other collaborations. Appendices include questionnaires, sample forms and reports, processes, workshop questions and tests, and events held. [Funded by the Maternal and Child Health Bureau]

Contact: Brooklyn Hospital Center, Genetics Unit, 121 DeKalb Avenue, Brooklyn, NY 11201, Telephone: (718) 403-8032 Web Site: http://www.tbh.org/healthcare-services/reproductive-genetics

Keywords: Blacks, Community based services, Genetic screening, Hemoglobinopathies, Neonatal screening, New York, , Outreach, Sickle cell disease, Sickle cell trait

Annotation: This DVD explains to expecting parents what newborn screening is, the test procedure, and what parents need to do if retesting is necessary. It discusses the public health program state requirement for testing within the first two days after birth for common and rare conditions. The DVD contains both English and Spanish versions.

Contact: March of Dimes, 1275 Mamaroneck Avenue, White Plains, NY 10605, Telephone: (914) 997-4488 Secondary Telephone: Web Site: http://www.marchofdimes.com $22.00, plus shipping and handling.

Keywords: Audiovisual materials, Consumer education materials, DVDs, Genetic screening, Infant health, Neonatal screening, Screening tests, Spanish language materials

Annotation: This report describes a three-year project to reach parents of newborns identified at birth as being carriers of sickle cell trait or having sickle cell disease, to provide follow-up counseling and improved access to appropriate educational information and needed care, and to provide continuing education to healthcare providers. The Great Montgomery, Alabama, program also offered services to eliminate significant impediments to adolescents with sickle cell disease and their parents during transition to adult healthcare. Report contents include a description of the project's purpose; issues and background information; an overview of methodologies; goals and objectives; and provides a summary of findings, conclusions, and recommendations. The appendix contains a variety of charts, statistical data, sample letters, surveys and testing documents; and other publications produced during the project. [Funded by the Maternal and Child Health Bureau]

Contact: Sickle Cell Foundation of Greater Montgomery, 3180 U.S. Highway 80 West, P.O. Box 9278, Montgomery, AL 36108, Telephone: (334) 286-9122 Fax: (334) 286-4804

Keywords: Adolescents, Alabama, Children, Final reports, Health literacy, Hemoglobinopathies, Parents, Program descriptions, Sickle cell disease

Annotation: This document presents results of a national process to develop recommendations for nationally recognized newborn screening system standards and policies. It describes criteria for analysis, data collection, developing a uniform screening panel, specifics of disorders considered for inclusion in a national system, and recommendations for further research.

Contact: American College of Medical Genetics, 7220 Wisconsin Avenue, N.W., Suite 300, Bethesda, MD 20814, Telephone: (301) 718-9603 Fax: (301) 718-9604 E-mail: [email protected] Web Site: http://www.acmg.net Available from the website.

• PDF
• Program Website

Keywords: Federal MCH programs, Genetic screening, MCH research, Neonatal screening, Newborn infants, Standards, State programs

Annotation: This report, made available for public comment, describes an analysis of the scientific literature on the effectiveness of newborn screening and gathers expert opinion to delineate the best evidence for screening specified conditions and develop recommendations focused on newborn screening, including the development of a uniform condition panel. The report is divided into several sections: the introduction; developing a uniform screening panel; and the newborn screening system: program evaluation, cost-effectiveness, information needs, and future needs. Report contents begin with a methods section providing the broad context for the newborn screening system and the overarching principles for developing newborn screening guidelines. Criteria used in the analyses of condition under consideration for newborn screening programs are described. Following is a description of the development and use of data collection tools to collect data that would complement evidence gathers from a review of the scientific literature, and also a description of the process for obtaining additional expert information and opinion. The results of these analyses are provided as well as recommendations for moving forward. References conclude the report. Statistical data are provided in figures throughout the report. Appendices include samples of (1) newborn screening fact sheet validation and fact sheets; (2) condition evaluation tool; (3) condition ACT(ion) sheets; (4) program standards; and (5) HIPPA guidance for public health programs. One box provides information about the Wilson-Junger criteria for appraising the validity of a screening program. [Funded by the Maternal and Child Health Bureau]

Contact: U.S. Maternal and Child Health Bureau, Health Resources and Services Administration, 5600 Fishers Lane, Rockville, MD 20857, Telephone: (301) 443-2170 Web Site: https://mchb.hrsa.gov Available from the website.

• Full Report
• Program Website

Keywords: Federal MCH programs, Genetic screening, MCH research, Neonatal screening, Newborn infants, Standards, State programs

Annotation: This policy brief provides information on newborn hearing screening. It introduces the issue of children born with hearing loss, discusses the state and the federal role in providing screening, and offers recommendations.

Contact: Association of Maternal and Child Health Programs, 1825 K Street, N.W., Suite 250, Washington, DC 20006-1202, Telephone: (202) 775-0436 Fax: (202) 478-5120 E-mail: [email protected] Web Site: http://www.amchp.org Available from the website.

• PDF

Keywords: Federal programs, Hearing disorders, Hearing screening, Infant health, Neonatal screening, Newborn infants, State programs

Annotation: This final report describes the Expanded Newborn Screening Using Tandem Mass Spectrometry: Financial, Ethical, Legal, and Social Issues Project during the period June 1, 2001, through August 31, 2005. This multi-state, collaborative project was designed to research, identify strategies, and develop materials for addressing the financial, ethical, legal,and social issues surrounding the use of tandem mass spectrometry for neonatal metabolic screening of culturally and ethnically diverse populations. Participating states included Hawaii, California, Idaho, Oregon, and Washington. The final report is divided into the following sections: (1) overview, (2) collaboration, (3) experiences to date, (4) dissemination of materials, (5) copies of publications and other materials, and (6) next steps. The report also includes seven appendices: (1) educational activities (development), (2) educational activities (products), (3) financial, ethical, legal, and social issues, (4) parent fact sheets, (5) professional fact sheets, (6) information dissemination, and (7) Web site. [Funded by the Maternal and Child Health Bureau]

Contact: Hawaii Department of Health, Genetics Program, 741 Sunset Avenue, Honolulu, HI 96816, Telephone: (808) 733-9055 Fax: (808) 733-9068 Web Site: http://www.hawaiigenetics.org

Keywords: California, Cultural diversity, Ethics, Ethnic factors, Final reports, Financing, Hawaii, Idaho, Legal issues, Neonatal screening, Oregon, Social factors, Washington

Annotation: This report to the Virginia Governor and General Assembly reviews information regarding newborn screening (NBS) programs for metabolic disorders including disorders screened in other states, and the benefits and costs associated with screenings. Report contents include an executive summary and printed PowerPoint presentation slides reviewing options for Virginia's newborn screening program, dated May 4, 2004 and October 26, 2004. The appendix includes the enrolled House Joint Resolution No. 164 requesting the NBS study.

Contact: Joint Commission on Health Care, P.O. Box 1322, Richmond, VA 23218, Telephone: (804) 786-5445 Fax: (804) 786-5538 E-mail: [email protected] Web Site: http://jchc.virginia.gov/ Available from the website.

• PDF

Keywords: Legislation, Neonatal screening, Newborn infants, Screening, State programs, Virginia

Annotation: This manual assists primary care practitioners and pediatricians in navigating the newborn blood spot screening process in Minnesota. The manual is intended to help clinicians answer basic questions about newborn blood spot screening and define their roles in the follow-up of abnormal results, collection of repeat specimens, and assurance that all infants in their practice have documented results. Contents also include brochures and fact sheets for practitioners and parents as well as appendices providing technical and program information, resources for parents, and a bibliography and references.

Contact: Minnesota Children with Special Health Care Needs, Minnesota Department of Health, 85 East Seventh Place / P.O. Box 64975, St. Paul, MN 55164-0882, Telephone: (651) 201-5000 Secondary Telephone: (800) 345-0823 E-mail: [email protected] Web Site: http://www.health.state.mn.us/divs/fh/mcshn/mcshn.html Available from the website.

• PDF

Keywords: Genetic screening, Manuals, Minnesota, Neonatal screening, Newborn infants, Resources for professionals, State programs

Annotation: This booklet provides an overview of the early hearing detection and intervention (EHDI)process, including screening before ages 1, 3 and 6 months; communication choices for families with infants who have hearing loss; and working with the infant's health care provider. A list of Web sites for more information is included. It is available in English and in Spanish.

Contact: National Center on Birth Defects and Developmental Disabilities, Early Hearing Detection and Intervention Program, 1600 Clifton Road, Mailstop E-88, Atlanta, GA 30333, Telephone: (404) 498-3032 Secondary Telephone: (800) 232-4636 Fax: (404) 498-3060 E-mail: [email protected] Web Site: https://www.cdc.gov/ncbddd/hearingloss/ehdi-programs.html Available at no charge; also available from the website.

• In English
• In Spanish

Keywords: Consumer education materials, Communication, Deafness, Hearing disorders, Hearing screening, Infants, Parent professional relations, Spanish language materials

Annotation: This booklet provides an overview of the EHDI process, the timing or care before1, 3, and 6 months of age, communication choices, the primary care provider's role as a medical home,and risk factors for hearing loss. A list of Web sites for further information is included.

Contact: National Center on Birth Defects and Developmental Disabilities, Early Hearing Detection and Intervention Program, 1600 Clifton Road, Mailstop E-88, Atlanta, GA 30333, Telephone: (404) 498-3032 Secondary Telephone: (800) 232-4636 Fax: (404) 498-3060 E-mail: [email protected] Web Site: https://www.cdc.gov/ncbddd/hearingloss/ehdi-programs.html Available at no charge; also available from the website.

• PDF

Keywords: Communication, Deafness, Hearing disorders, Hearing screening, Infants, Parent professional relations

Annotation: This resource guide provides information to help families and health professionals understand fetal alcohol spectrum disorders (FASD). Section 1 defines FAS and other alcohol-related effects and explains the latest terminology. Section 2 explains how and when alcohol consumption affects fetal development. Section 3 includes 10 facts about FAS pertaining to prevalence, causes, and common myths. Section 4 highlights two diagnostic tools used to identify individuals with FAS. Section 5 describes the effects of FASD and provides cognitive, behavioral, educational, and health care intervention strategies for those working with individuals with FASD and compares several screening instruments currently used to identify women at risk for prenatal alcohol consumption. The resource section provides a list of FASD resources.

Contact: SAMHSA Fetal Alcohol Spectrum Disorders Center for Excellence, 2101 Gaither Road, Suite 600, Rockville, MD 20850, Telephone: (866) 786-7327 E-mail: [email protected] Web Site: http://www.fasdcenter.samhsa.gov/ Available from the website.

• PDF

Keywords: Costs, Diagnosis, Fetal alcohol syndrome, Fetal development, Genetic screening, Neonatal screening, Pregnancy, Primary care, Risk factors, Screening tests

Annotation: This report describes the Georgia Newborn Screening Program, a program requiring that every live born infant have a blood test for nine metabolic disorders (phenylketonuria, congenital hypothyroidism, maple syrup urine disease, galactosemia, tyrosinemia, homocystinuria, congenital adrenal hyperplasia, biotinidase deficiency, medium-chain acyl-CoA dehydrogenase deficiency) and for sickle cell disorders. The report provides an overview of the program; discusses its screening, testing and reporting, and diagnostic activities; and describes its follow-up programs. Education resources are also included.

Contact: Maternal and Child Health Library at Georgetown University, E-mail: [email protected] Web Site: https://www.mchlibrary.org Available from the website.

• Undated Edition
• 2004 Edition

Keywords: Biotinidase deficiency, Blood tests, Congenital adrenal hyperplasia, Congenital hypothyroidism, Diagnosis, Galactosemia, Georgia, Homocystinuria, Maple syrup urine disease, Metabolic diseases, Neonatal screening, Newborn infants, Phenylketonuria, Resource materials, Sickle cell disease, State programs, Tyrosinemia

Annotation: This final report describes a project to develop an optimal model of care for children with metabolic disorders, incorporating newborn screening in conjunction with follow-up in a community-based medical home that is linked to a metabolic center and community services. Report sections include the project identification; an abstract including the purpose of the program, goals and objectives, methodology, methods of enrollment, and data analysis; evaluation; results and outcomes; discussion; a list of publications and products generated by the project; future plans and follow-up; and type and amount of support and resources needed to replicate the project. Appendices include examples of screening and treatment protocols, representative published articles, and surveys and questionnaires. [Funded by the Maternal and Child Health Bureau]

Keywords: Children with special health care needs, Community based services, Final reports, MCH research, Medical home, Metabolic diseases, Neonatal screening, Newborn infants, Program development

Annotation: This compendium lists annotated citations from published research and policies related to the genetic testing of children and adolescents, particularly predictive testing that determines the probability that an individual with or without a family history of a certain disease might develop that disease. Entries are arranged into the following categories: adoption, carrier identification, ethical issues, legal issues, policy and practice guidelines, psychosocial issues, research issues, and additional related issues. Discussion is also provided on genetics and genomics: broader perspectives on testing and lessons on newborn screening. An index, organized by disease or condition and by category, concludes the compendium. [Funded by the Maternal and Child Health Bureau]

Contact: National Newborn Screening and Genetics Resource Center, University of Texas Health Science Center at San Antonio, 1912 West Anderson Lane, Suite 210, Austin, TX 78757, Telephone: (512) 454-6419 Fax: (512) 454-6509 E-mail: [email protected] Web Site: http://genes-r-us.uthscsa.edu Available from the website.

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Keywords: Adolescent health, Bibliographies, Child health, Genetic screening, Health policy, MCH research, Neonatal screening, Program descriptions, Screening tests

Annotation: This brochure for parents describes the need for hearing screening in newborn infants, how hearing loss impacts infant and child development, what techniques are used, and how results are interpreted.

Contact: Vermont Department of Health, Division of Health Improvement, 108 Cherry Street, P.O. Box 70, Burlington, VT 05402, Telephone: (802) 865-1333 Secondary Telephone: (800) 660-4427 Web Site: http://healthvermont.gov/admin/hi/hi.aspx Available at no charge; also available from the website.

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Keywords: Child development, Consumer education materials, Hearing screening, Hearing tests, Neonatal screening, Newborn infants, Vermont

Annotation: This sourcebook presents the results of a study to identify and describe best practices in integrating newborn screening information with other early childhood health information and their supporting systems among Special Projects of Regional and National Significance (SPRANS) planning grantees. The sourcebook describes key elements for planning and implementing integration efforts and what are considered best practices in their implementation. It includes two in-depth case studies that describe how the key elements were implemented through two very different approaches and provides lessons learned. A bibliography and additional resources are included. [Funded in part by the Maternal and Child Health Bureau]

Contact: All Kids Count, 750 Commerce Drive, Suite 400***DEFUNCT***, Decatur, GA 30030, Telephone: (800) 874-4338 Fax: (800) 765-7520 E-mail: [email protected] Available from the website.

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Keywords: Health care systems, Integrated information systems, Medical records, Model programs, Neonatal screening, Planning, Young children

Annotation: This tool is designed to assist public health teams in designing their child health information systems integration projects from planning through early implementation. It is a companion document to Integration of Newborn Screening and Genetic Services Systems with Other Maternal and Child Health Systems: A Sourcebook for Planning and Development. This tool highlights nine key elements critical to the success of an information systems integration project and lists critical components that significantly influence the likelihood that an integration project will yield the desired data for improving program effectiveness and health outcomes. It includes a questionnaire to help project teams assess where they are in achieving the best practices identified in the companion document and an integration planning matrix for determining future goals, strategies needed to reach each goal, and the people responsible for achieving the goals. [Funded in part by the Maternal and Child Health Bureau]

Contact: All Kids Count, 750 Commerce Drive, Suite 400***DEFUNCT***, Decatur, GA 30030, Telephone: (800) 874-4338 Fax: (800) 765-7520 E-mail: [email protected] Available from the website.

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Keywords: Health care systems, Integrated information systems, Medical records, Model programs, Neonatal screening, Planning, Young children

Annotation: This report was prepared for the Genetic Services Branch of the Maternal and Child Health Bureau summarizing the third in a series of technical assistance meetings of grantees from 16 states. The purpose of the meeting was to share information between grantees and learn the lessons needed to forge ahead and build systems that ensure an optimal healthy start for children by providing for the assessment and provision of services. Report sections include summaries of grantee presentations and panel discussions, a review of the status of newborn screening across the nation, a review of two publications produced on best practices in information integration models, pitfalls in translating data into action, principles and core functions of integrated child health information systems, developing indicators to measure child health information systems integration, community-based systems of care, and a wrap-up summary. Also included are a participant list and an assessment tool for comparing state genetics services. [Funded by the Maternal and Child Health Bureau]

Contact: National Newborn Screening and Genetics Resource Center, University of Texas Health Science Center at San Antonio, 1912 West Anderson Lane, Suite 210, Austin, TX 78757, Telephone: (512) 454-6419 Fax: (512) 454-6509 E-mail: [email protected] Web Site: http://genes-r-us.uthscsa.edu Available from the website.

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Keywords: Child health, Conferences, Genetic screening, Health care systems, Information services, Integrated information systems, MCH research, Neonatal screening, Service delivery systems

Annotation: This report summarizes selected characteristics of state newborn screening programs in all 50 states and the District of Columbia. Information is provided on disorders for which newborns are tested in each state, state program expenditures and funding sources, efforts by federal and state agencies to monitor and evaluate the screening program quality, and how state laws address consent and privacy issues related to newborn screening. The appendices provide information on the scope and methodology of the study, number of disorders included as of December 2002, information on the disorders most commonly included, selected disorders that states screen for using tandem mass spectrometry (MS/MS), program fees and expenditures per infant screened, and comments and acknowledgments.

Contact: U.S. Government Accountability Office, 441 G Street, N.W., Washington, DC 20548, Telephone: (202) 512-3000 E-mail: [email protected] Web Site: http://www.gao.gov Available from the website.

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Keywords: Neonatal screening, Program descriptions, Quality assurance, State programs, State surveys

Annotation: This guide, which is geared toward health professionals, is designed to help readers comply with Wisconsin's statute requiring newborn screening. The guide provides information about the test panel and newborn screening timeline, when and how to collect a blood specimen, specimen handling and mailing, laboratory testing and reporting, treatment centers and where to go for more information, newborn screening disorders, newborn hearing screening, newborn screening statute WS.253.13, newborn screening funding, the Wisconsin newborn screening advisory group, and newborn screening program administration.

Contact: Wisconsin Newborn Screening Laboratory, University of Wisconsin at Madison, 465 Henry Mall, Madison, WI 53706, Telephone: (608) 262-1293 Fax: (608) 262-3257 Web Site: http://www.slh.wisc.edu Available from the website.

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Keywords: Financing, Hearing screening, Legislation, Neonatal screening, Screening tests, Wisconsin

Annotation: These guidelines provide a framework for the prevention and management of hyperbilirubinemia in newborn infants of 35 or more weeks of gestation to reduce the risk of severe hyperbilirubinemia and bilirubin encephalopathy while minimizing the risks of unintended harm such as maternal anxiety, decreased breastfeeding, and unnecessary costs or treatments. Contents include a definition of recommendations and conditions, a description of the focus of the guideline, primary and secondary prevention, treatment, implementation strategies, and future research needs.

Contact: American Academy of Pediatrics, 345 Park Boulevard, Itasca, IL 60143, Telephone: 800/433-9016 Secondary Telephone: 202/347-8600 E-mail: https://www.aap.org/en/pages/contact-us/contact-national-headquarters/ Web Site: https://www.aap.org Available from the website.

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Keywords: Guidelines, Hyperbilirubinemia, Infant health, Infant health services, Jaundice, Neonatal screening, Pediatric care, Resources for professionals

Annotation: The articles in this supplement to the journal Pediatrics highlight activities that the Maternal and Child Heath Bureau, Health Services and Research Administration, and the American Academy of Pediatrics have implemented since recommendations from the August 2000 report, Serving the Family from Birth to the Medical Home, were generated.The supplement includes 15 articles related to the topic of newborn screening. [Funded by the Maternal and Child Health Bureau]

Keywords: Families, Medical home, Neonatal screening, Newborn infants, Research