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, Decatur, GA 30030, Telephone: (800) 874-4338 Fax: (800) 765-7520 E-mail: info@allkidscount.org Web Site: http://www.allkidscount.org Available at no charge from the Web site.

• PDF

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, Decatur, GA 30030, Telephone: (800) 874-4338 Fax: (800) 765-7520 E-mail: info@allkidscount.org Web Site: http://www.allkidscount.org Available at no charge from the Web site.

• PDF

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

Annotation: This compendium includes selected resources and abstracts on the following topics: (1) general newborn screening; (2) biotinidase deficiency, (2) congenital adrenal hyperplasia, (3) congenital hypothyroidism, (4) cystic fibrosis, (5) drug exposure, (6) galactosemia, (7) hearing screening, (8) hemoglobinapathies, (9) HIV, (10) medium chain co-A dehydrogenase deficiency, (11) phenylketonuria. Additional resources are provided on newborn screening policy; ethical, legal, and social issues; costs and financing of screening newborns; laboratory analysis; research and new technologies; and treatment and management. [Funded in part by the Maternal and Child Health Bureau]

Contact: National Center for Medical Home Implementation, American Academy of Pediatrics Division of Children with Special Needs, 141 Northwest Point Boulevard, P.O. Box 747, Elk Grove Village, IL 60007, Telephone: (847) 434-4000 Secondary Telephone: (800) 433-9016 Fax: (847) 228-7035 E-mail: medical_home@aap.org Web Site: http://www.medicalhomeinfo.org

Keywords: Biotinidase deficiency, Congenital adrenal hyperplasia, Congenital hypothyroidism, Cystic fibrosis, Drug affected infants, EPSDT, Ethics, Financing, Galactosemia, HIV, Hearing screening, Hemoglobinapathies, Laboratories, Legal issues, Management, Neonatal screening, Phenylketonuria, Research, Technology

Annotation: This revised practice guideline outlines principles on which an effective screening program to detect retinopathy of prematurity might be based, including the timing of initial examination and subsequent reexamination intervals. It identifies the target population, interventions and practices considered, and recommendations. References are provided.

Contact: American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk Grove Village, IL 60007-1098, Telephone: (847) 434-4000 Secondary Telephone: (800) 433-9016 Fax: (847) 434-8000 Web Site: http://www.aap.org Available at no charge from the Web site.

• PDF

Keywords: Eye diseases, Guidelines, Neonatal screening, Premature infant diseases, Preterm birth, Resources for professionals, Retinopathy of prematurity

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, 141 Northwest Point Boulevard, Elk Grove Village, IL 60007-1098, Telephone: (847) 434-4000 Secondary Telephone: (800) 433-9016 Fax: (847) 434-8000 Web Site: http://www.aap.org Available at no charge.

• Revised Practice Guideline

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

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, Parklawn Building, Room 18-05, 5600 Fishers Lane, Rockville, MD 20857, Telephone: (301) 443-2170 Secondary Telephone: (800) 311-2229= (800) 311-BABY Fax: (301) 443-1797 E-mail: ctibbs@hrsa.gov Web Site: http://www.mchb.hrsa.gov Available at no charge from the Web site.

• Full Report
• Executive Summary

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, 2030 M Street, N.W., Suite 350, Washington, DC 20036, Telephone: (202) 775-0436 Fax: (202) 775-0061 Web Site: http://www.amchp.org Available at no charge from the Web site.

• PDF

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

Annotation: This report assesses actitivities occurring following newborn screening and diagnosis that limit the health consequences of confirmed disorders. The report discusses the background of newborn screening, as well as the follow-up activities that are currently in place; defines long-term follow-up (LTFU), lists the components of LTFU, and discusses the current state of LTFU activities; discusses challenges, opportunities, and next steps, and provides a conclusion.

Contact: Association of Maternal and Child Health Programs, 2030 M Street, N.W., Suite 350, Washington, DC 20036, Telephone: (202) 775-0436 Fax: (202) 775-0061 Web Site: http://www.amchp.org Available at no charge from the Web site.

• PDF

Keywords: Diagnosis, Disorders, Neonatal screening, Prevention

Annotation: This issue report provides an overview of methods for financing expanded state newborn screening programs and examines seven states' experiences (California, Maryland, Minnesota, Mississippi, New York, Oklahoma, and Oregon). These case studies illustrate how state public health agencies are financing and sustaining newborn screening programs in the context of budget shortfalls, the demand for more tests, and the increasing involvement of private laboratories. The report, which includes an executive summary, also discusses factors driving change. A summary and a list of sources cited are included. [Funded by the Maternal and Child Health Bureau]

Contact: Association of State and Territorial Health Officials, 2231 Crystal Drive, Suite 450, Arlington, VA 22202, Telephone: (202) 371-9090 Fax: (571) 527-3189 Web Site: http://www.astho.org Available at no charge from the Web site.

• PDF

Keywords: California, Case studies, Financing, Maryland, Minnesota, Mississippi, New York, Newborn infants, Oklahoma, Oregon, Screening tests, State programs

Annotation: This issue brief provides an overview of the newborn screening system and highlights ways state public health agencies can support a coordinated, seamless system that benefits infants, families, and providers. It focuses primarily on state-level actions and discusses the need for federal leadership and support. Topics include screening, follow up, treatment and management, and evaluation and quality assurance. [Funded in part by the Maternal and Child Health Bureau]

Contact: Association of State and Territorial Health Officials, 2231 Crystal Drive, Suite 450, Arlington, VA 22202, Telephone: (202) 371-9090 Fax: (571) 527-3189 Web Site: http://www.astho.org Available at no charge from the Web site.

• PDF

Keywords: Genetic screening, Genetic services, Infant health, Neonatal screening, Newborn infants, State programs

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: patricia.getty@samhsa.hhs.gov Web Site: http://www.fasdcenter.samhsa.gov/ Available at no charge from the Web site.

• PDF

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

Annotation: This manual is provided to assist in using the Region X Nursing Network Newborn Health Standards for nurses working with maternal and child populations in community settings. It begins with a brief history of the standards and recommendations for using them. The manual has sections on level I and Level II assessments of eleven functional areas which are (1) nutrition/metabolic, (2) elimination, (3) sleep/rest, (4) activity/exercise, (5) cognitive/perceptual, (6) health perception, (7) self-concept/perception, (8) role/relationships, (9) sexuality/reproductive, (10) coping/stress/tolerance, and (11) value/belief. A case study is included. Appendices cover topics such as the nursing process and the standards, charting by exception, nursing skills useful for using the standards, public health core functions and standards, and information about Region X. [Funded by the Maternal and Child Health Bureau]

Contact: Maternal and Child Health Library at Georgetown University, Box 571272, Washington, DC 20057-1272, Telephone: (202) 784-9770 Fax: (202) 784-9777 E-mail: mchgroup@georgetown.edu Web Site: http://www.mchlibrary.info Available for loan. Document Number: HRSA Info. Ctr. MCHL090.

Keywords: Case assessment, Case management, Community health services, Infant development, Manuals, Neonatal screening, Newborn infants, Nursing services, Public health nursing, Region X, Standards

Annotation: These guidelines address a number of issues to be considered in implementing follow-up programs when state neonatal screening programs reveal sickle cell disease and related hemoglobinopathies. These issues include parent education programs, training needs for genetic counselors, and the overall costs of various approaches to screening and treatment. [Funded by the Maternal and Child Health Bureau]

Contact: HRSA Information Center, P.O. Box 2910, Merrifield, VA 22116, Telephone: (888) 275-4772 Secondary Telephone: (877) 489-4772 Fax: (703) 821-2098 E-mail: ask@hrsa.gov Web Site: http://www.ask.hrsa.gov Available at no charge. Document Number: HRSA Info. Ctr. MCHL098.

Keywords: Costs, Genetic counseling, Genetic screening, Guidelines, Hemoglobinopathies, Neonatal screening, Parent education programs, Perinatal services, Sickle cell disease, State CSHCN programs

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]

Contact: HRSA Information Center, P.O. Box 2910, Merrifield, VA 22116, Telephone: (888) 275-4772 Secondary Telephone: (877) 489-4772 Fax: (703) 821-2098 E-mail: ask@hrsa.gov Web Site: http://www.ask.hrsa.gov Available at no charge. Document Number: HRSA Info. Ctr. MCH00194.

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

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: Georgia Department of Community Health, Division of Public Health, Two Peachtree Street, N.W., Atlanta, GA 30303-3186, Telephone: (404) 657-2700 Web Site: http://health.state.ga.us Available at no charge from the Web site.

• PDF

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 pocket card for physicians provides concise information about 10 disorders that can be identified during newborn screening so that early intervention can be implemented. The information is presented in tabular form and includes the name and incidence of the disorder, the defect, the indicator, symptoms, and treatment. The other side of the card provides phone numbers for the Georgia Newborn Screening Program office; the Georgia Public Health Laboratory; Management and Treatment Resources; the Medical College of Georgia, Pediatric Sickle Cell Clinic; and the GA Comprehensive Sickle Cell Center/Grady Health System. General information about the Georgia Newborn Screening Program is also provided.

Contact: Georgia Department of Community Health, Division of Public Health, Two Peachtree Street, N.W., Atlanta, GA 30303-3186, Telephone: (404) 657-2700 Web Site: http://health.state.ga.us Available at no charge from the Web site.

• PDF

Keywords: Congenital abnormalities, Disorders, Georgia, Neonatal screening, Newborn infants, Prevention, Symptoms, Treatment

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: therrell@uthscsa.edu Web Site: http://genes-r-us.uthscsa.edu Available at no charge from the Web site.

• PDF

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

Annotation: This evidence synthesis identifies strengths, weaknesses, and gaps in the evidence supporting universal newborn hearing screening (UNHS) and compares the additional benefits and harms of UNHS with those of selective screening of high-risk newborns. The report, which includes an abstract, discusses the study methods and results and offers a discussion. Statistical information is presented in figures and tables throughout the report. The report includes three appendices: (1)literature search strategy, (2) literature search results, and (3) quality rating criteria.

Contact: U.S. Agency for Healthcare Research and Quality, Office of Communications and Knowledge Transfer, 540 Gaither Road, Suite 2000, Rockville, MD 20850, Telephone: (301) 427-1364 Secondary Telephone: (800) 358-9295 E-mail: http://info.ahrq.gov Web Site: http://www.ahrq.gov Available at no charge from the Web site. Document Number: AHRQ pub. no. 02-S001.

• Link

Keywords: Hearing screening, MCH research, Neonatal screening, Newborn infants

Annotation: This brief report for state policymakers discusses the roles and responsibilities that the federal and state governments have in requiring and promoting infant screening programs. Topics include quick facts about newborn screening policies; federal and state roles in protection and service; historical perspectives; and creative approaches in state legislation with examples from nine various states.

Contact: HRSA Information Center, P.O. Box 2910, Merrifield, VA 22116, Telephone: (888) 275-4772 Secondary Telephone: (877) 489-4772 Fax: (703) 821-2098 E-mail: ask@hrsa.gov Web Site: http://www.ask.hrsa.gov Available at no charge. Document Number: HRSA Info. Ctr. MCHN069.

Keywords: Federal programs, Health policy, Infant health, Legislation, Neonatal screening, Regulations, State programs

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: ksnead@leg.state.va.us Web Site: http://jchc.state.va.us/ Available at no charge from the Web site.

• Link

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

Annotation: This manual provides information about the diagnosis of sickle cell disease, an overview of comprehensive care, and clinical paths and protocols for the management of some of the more common acute and chronic complications. The manual includes the following main sections: (1) principles of care for children and adolescents with sickle cell disease, (2) diagnostic testing for the common sickle cell syndromes, (3) newborn screening follow-up guidelines, (4) sickle cell disease -- comprehensive care, (5) acute illness in sickle cell disease: illness requiring urgent medical care, (6) transfusion therapy for acute complications, (7) clinical care paths, (8) general anesthesia and surgery, (9) chronic transfusion protocol, (10) hydroxyurea protocol, (11) hematopoietic stem cell transplantation, (12) transcranial doppler ultrasonography, and (13) references. Two appendices include a list of sickle cell disease care consortium members and a list of other contributors. [Funded in part by the Maternal and Child Health Bureau]

Contact: Sickle Cell Information Center, Grady Memorial Hospital, P. O. Box 109, 80 Jessie Hill Jr. Drive, S. E., Atlanta, GA 30303, Telephone: (404) 616-3572 Fax: (404) 616-5998 E-mail: aplatt@emory.edu Web Site: http://www.scinfo.org/ Available at no charge from the Web site.

• Link

Keywords: Acute diseases, Adolescents, Children, Chronic illnesses and disabilities, Comprehensive health care, Diagnosis, Disease management, Guidelines, Management, Neonatal screening, Protocols, Sickle cell disease, Sickle cell screening

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 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 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 brief provides information on tests given to newborns to screen for certain genetic, metabolic, hormonal, and functional disorders. Detail is provided on the individual tests, how and when they are performed, what abnormal test results might mean, what test results may mean for siblings, and the role of the March of Dimes in funding research. References are included.

Contact: March of Dimes, 1275 Mamaroneck Avenue, White Plains, NY 10605, Telephone: (914) 997-4488 Web Site: http://www.marchofdimes.com Available at no charge from the Web site.

• Link

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

Annotation: This pamphlet lists 29 conditions for which screening is recommended in newborns before they are taken home from the hospital. The pamphlet also lists some Web sites to reference for more information about screening and specific disorders.

Contact: March of Dimes, 1275 Mamaroneck Avenue, White Plains, NY 10605, Telephone: (914) 997-4488 Web Site: http://www.marchofdimes.com Available at no charge. Document Number: English #09-2303-08; Spanish #09-2042-06.

Keywords: Consumer education materials, Infant care, Infant health services, Screening

Annotation: This state report card indicates where each state stands in terms of its testing for the following: phenylketonuria, congenial hypothyroidism, galactosemia, maple syrup urine disease, homocystinuria, biotinidase, sickle cell disease, congenital adrenal hyperplasia, MCAD, and hearing. The information is presented in a table that indicates whether the tests have been authorized and implemented for the entire population or a select population, and, in the case of hearing, the percentage of the state's newborns screened for hearing deficiency.

Contact: March of Dimes, 1275 Mamaroneck Avenue, White Plains, NY 10605, Telephone: (914) 997-4488 Web Site: http://www.marchofdimes.com Available at no charge from the Web site.

• PDF

Keywords: Biotinidase deficiency, Congenial hypothyroidism, Congenital adrenal hyperplasia, Galactosemia, Hearing screening, Homocystinuria, Maple syrup urine disease, Neonatal screening, Phenylketonuria, Sickle cell disease, State programs

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: mcshnweb@health.state.mn.us Web Site: http://www.health.state.mn.us/divs/fh/mcshn/mcshn.html Available at no charge from the Web site.

• PDF

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

Annotation: The purpose of this manual is to assist states and other stakeholders in developing or enhancing comprehensive early hearing detection and intervention (EHDI) programs. The manual is divided into the following chapters: (1) vision, mission, goals, program objectives, and performance indicators; (2) planning and evaluation; (3) composing a state EHDI summary report; (4) statistical reports for a state-based EHDI screening, referral, audiologic evaluation, and follow-up; (5) creating an EHDI Web site; (6) privacy and confidentiality of data; (7) EHDI tracking and surveillance system; (8) tracking: screening through evaluation; (9) registry of children with hearing loss -- long-term tracking; (10) coordination of EHDI with other state and educational programs; and (11) coordination of health care services and the medical home. The manual also includes appendices on national goals, program objectives, and performance measures; abbreviations and acronyms; surveillance data items; annual statistical report worksheet; program stakeholders; independent state Web sites; and resources.

Contact: National Center on Birth Defects and Developmental Disabilities, 1600 Clifton Road, Atlanta, GA 30333, Telephone: (404) 498-1515 Secondary Telephone: (800) 311-3435 Web Site: http://www.cdc.gov/ncbddd Available at no charge; also available at no charge from the Web site.

• PDF

Keywords: Guidelines, Hearing screening, Hearing tests, Manuals, Program development, Program improvement, State initiatives

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: ehdi@cdc.gov Web Site: http://www.cdc.gov/ncbddd/ehdi Available at no charge; also available at no charge from the Web site.

• 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: ehdi@cdc.gov Web Site: http://www.cdc.gov/ncbddd/ehdi Available at no charge; also available at no charge from the Web site.

• PDF

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

Annotation: This report provides information from the NIH Consensus Development Conference on Phenylketonuria (PKU) Screening and Management, including the consensus statement developed by the participants, abstracts of presentations made at the conference, and the report of the consensus development panel. Appendices provide additional information about PKU. [Sponsored in part by the Maternal and Child Health Bureau.]

Contact: National Institute of Child Health and Human Development Information Resource Center, P.O. Box 3006, Rockville, MD 20847, Telephone: (800) 370-2943 Fax: (301) 984-1473 E-mail: NICHDInformationResourceCenter@mail.nih.gov Web Site: http://www.nichd.nih.gov/ Available at no charge; also available at no charge from the Web site.

• Link

Keywords: Conferences, Genetic screening, Hereditary diseases, Interdisciplinary training, Metabolic diseases, Neonatal screening, Nutrition, Phenylketonuria, Research, Therapeutics

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: therrell@uthscsa.edu Web Site: http://genes-r-us.uthscsa.edu Available at no charge from the Web site.

• Word Document

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

Annotation: This annual report provides data from a survey of U.S. state and territorial health departments regarding newborn screening programs and practices. The report is designed to respond to the needs of federal, state and local health agencies for pertinent data. The report does not attempt to analyze the data, but concentrates on compilation and presentation of the most current and comprehensive information available. Interpretive comments are included to explain limitation of the compiles information. It provides data on live births, an overview of screening procedures, ages of infants screened, initial screening test performed, second screening test, definitions of diseases include in screening, detected disorders subdivided by race or ethnic origin, treatment initiation, laboratory services and testing methods. An appendix gives a listing of the state screening programs. This title was previously published by the Council of Regional Networks for Genetic Services. [Funded by the Maternal and Child Health Bureau]

Contact: HRSA Information Center, P.O. Box 2910, Merrifield, VA 22116, Telephone: (888) 275-4772 Secondary Telephone: (877) 489-4772 Fax: (703) 821-2098 E-mail: ask@hrsa.gov Web Site: http://www.ask.hrsa.gov Available at no charge. Document Number: HRSA Info. Ctr. MCH00085 (2000), MCH00062 (1999), MCHN119 (1998), MCHN075 (1997), MCHN027 (1996).

Keywords: Infant health, Neonatal screening, Screening tests, Statistics

Annotation: This report provides three charts that list state-by-state requirements and implementation status of screening tests for newborn infants in hearing; endocrine; hemoglobin; and disorders of fatty acids, organic acids, and amino acids ; and other metabolic disorders .

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: therrell@uthscsa.edu Web Site: http://genes-r-us.uthscsa.edu Available at no charge from the Web site.

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Keywords: Metabolic disorders, Neonatal screening, Newborn infants, Screening, State initiatives

Annotation: This report describes Nebraska's Plan for Newborn Screening and Genetic Services, which is designed to guide the development of a systemwide coordination of care for children with special health care needs with genetic conditions. It is divided into the following sections: (1) executive summary, (2) family story no.1, (3) introduction, (4) Nebraska demographics, (5) family story no. 2, (6) newborn screening, children with special health care needs, and genetics programs and activities, (7) needs assessment, (8) family story no. 3, (9) recommendation for action, (10) appendices, and (11) bibliography. The 11 appendices contain relevant surveys, an assessment tool, and other supplementary materials. [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: dhhs.helpline@nebraska.gov Web Site: http://www.hhs.state.ne.us Available at no charge from the Web site.

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Keywords: Children with special health care needs, Genetic disorders, Genetic screening, Nebraska, Neonatal screening, Service coordination, State initiatives, State programs

Annotation: This report describes the Nebraska program for newborn screening for inborn errors of metabolism and inherited disorders in 2004. Contents include sections on major initiatives, process and output data, plans, continuing activities. Additional sections review the newborn hearing screening system, screening data for 2004 and activities from 2004-2005. The appendix contains a newborn screening logic model. Statistical data are provided in tables and graphs thoroughout the report. This report has been published in previous years with different titles. [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: dhhs.helpline@nebraska.gov Web Site: http://www.hhs.state.ne.us

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

Annotation: This guide for newborn screening explains the purpose of newborn screening and answers some of parents' common question about newborn screening in Nebraska. It lists and explains the disorders included in Nebraska's routine screening panel, discusses supplementary screening, describes protections for infants' blood specimens, describes hearing screening, and offers contact information for resources on newborn screening. The guide includes color photographs.

Contact: Nebraska Department of Health and Human Services, P.O. Box 95026, Lincoln, NE 68509-5026, Telephone: (402) 471-3121 E-mail: dhhs.helpline@nebraska.gov Web Site: http://www.hhs.state.ne.us

Keywords: Blood specimen collection, Hearing screening, Nebraska, Neonatal screening, Newborn infants, Parents

Annotation: This PowerPoint presentation describes the reporting system of the Tennessee Early Hearing Detection and Intervention (EHDI) reports. The presentation begins with an overview of the different types of reports, which include the following: (1) rank by referral rate, (2) invalid screens by type, (3) refers by county, (4) cumulative summary by hospital, and (5) Tennessee early intervention services. Examples of each are then provided. The presentation concludes with a summary. [Funded by the Maternal and Child Health Bureau]

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. Pinnock@state.tn.us Web Site: http://www.state.tn.us/health/ Available at no charge.

Keywords: Early intervention, Hearing disorders, Hearing screening, Neonatal screening, State MCH programs, Tennessee

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., Washington, DC 20005, Telephone: (202) 296-4669 E-mail: info@bioethics.gov Web Site: http://www.bioethics.gov Available at no charge from the Web site.

• Full Report
• Appendix

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

Annotation: This paper discusses newborn genetic screening in the beginning of the genomic era, the debate over expanded newborn screening today and in the genomic era, the case for expanded newborn screening, and the case for caution in newborn screening.

Contact: President's Council on Bioethics, 1425 New York Avenue, N.W., Washington, DC 20005, Telephone: (202) 296-4669 E-mail: info@bioethics.gov Web Site: http://www.bioethics.gov Available at no charge from the Web site.

• Link

Keywords: Genetic screening, Neonatal screening, Newborn infants

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. Pinnock@state.tn.us Web Site: http://www.state.tn.us/health/ Available at no charge from the Web site.

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

Annotation: This booklet, which is intended for parents in Tennessee, discusses metablic newborn screening. It explain what metabolic newborn screening is; who is screened; when, how, and where the testing is done; where the testing is done; what are the disorders; why the tests are necessary; what can be done if a disorder is diagnosed; how parents are informed of results; what happens if any of the test results are abnormal; what an abnormal result signifies; whether having an infant with a disorder means that future children in the family will have this disorder as well; and what newborn hearing screening is. The booklet is also available in Spanish.

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. Pinnock@state.tn.us Web Site: http://www.state.tn.us/health/ Available at no charge from the Web site.

• English Edition
• Spanish Edition

Keywords: Hearing screening, Infant health, Metabolic disorders, Neonatal screening, Screening tests, Spanish language materials, Tennessee

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., Room LM, Washington, DC 20548, Telephone: (202) 512-3000 E-mail: contact@gao.gov Web Site: http://www.gao.gov Available at no charge; also available at no charge from the Web site.

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

Annotation: This fact sheet lists newborn screening disorders and provides a brief description of each. the disorders are presented in alphabetical order, beginning with biotidase deficiency and ending with urea cycle disorders. The descriptions of the disorders include information about the incidence of the disorder, if known, as well as information about who may be at increased risk.

Contact: HRSA Information Center, P.O. Box 2910, Merrifield, VA 22116, Telephone: (888) 275-4772 Secondary Telephone: (877) 489-4772 Fax: (703) 821-2098 E-mail: ask@hrsa.gov Web Site: http://www.ask.hrsa.gov Available at no charge. Document Number: HRSA Info. Ctr. MCH00169.

Keywords: Consumer education materials, Disorders, Neotantal screening, Newborn infants

Annotation: This fact sheet, which is geared toward health professionals, provides a guide for discussing newborn screening tests with parents. The fact sheet provides seven points that health professionals can use to explain to parents why their infant needs to be tested, what the purpose of the tests are, how the tests are performed, what to do if an infant needs to be retested, and where to go for more information.

Contact: Maternal and Child Health Library at Georgetown University, Box 571272, Washington, DC 20057-1272, Telephone: (202) 784-9770 Fax: (202) 784-9777 E-mail: mchgroup@georgetown.edu Web Site: http://www.mchlibrary.info Photocopy available at no charge. Document Number: HRSA Info. Ctr. MCH00172.

Keywords: Disorders, Neotantal screening, Newborn infants

Annotation: This fact sheet, which is geared toward health professionals, provides a guide for discussing newborn screening tests with parents that can help help professionals understand what parents want to know. The fact sheet provides seven points that health professionals can use to explain to parents why their infant needs to be tested, what the purpose of the tests are, how the tests are performed, what to do if an infant needs to be retested, and where to go for more information.

Contact: HRSA Information Center, P.O. Box 2910, Merrifield, VA 22116, Telephone: (888) 275-4772 Secondary Telephone: (877) 489-4772 Fax: (703) 821-2098 E-mail: ask@hrsa.gov Web Site: http://www.ask.hrsa.gov Available at no charge. Document Number: HRSA Info. Ctr. MCH00173.

Keywords: Disorders, Neonatal screening, Newborn infants

Annotation: This fact sheet for parents provides information about newborn screening tests. The fact sheet answers the following questions: (1) why does my baby need newborn screening tests?, (2) how will my baby be tested?, (3) how will I get the results of the test?, (4) why do some babies need to be retested?, (5) what if my baby needs to be retested?, and (6) what if I have questions? The fact sheet is available in English and Spanish.

Contact: HRSA Information Center, P.O. Box 2910, Merrifield, VA 22116, Telephone: (888) 275-4772 Secondary Telephone: (877) 489-4772 Fax: (703) 821-2098 E-mail: ask@hrsa.gov Web Site: http://www.ask.hrsa.gov Available at no charge. Document Number: HRSA Info. Ctr. MCH00170 (English); HRSA Info. Ctr. MCH00171 (Spanish).

Keywords: Consumer education materials, Disorders, Neotantal screening, Newborn infants, Spanish language materials

Annotation: This report presents the conclusions of two Genetic Policy Forums by state policy makers in January 2001, and summarizes state policies for newborn screening. Included in this report is a call for newborn screening guidelines, financing systems of care, views on use of residual samples, testing for sickle cell anemia, and genetic policy development. A list of participants is provided.

Contact: HRSA Information Center, P.O. Box 2910, Merrifield, VA 22116, Telephone: (888) 275-4772 Secondary Telephone: (877) 489-4772 Fax: (703) 821-2098 E-mail: ask@hrsa.gov Web Site: http://www.ask.hrsa.gov Available at no charge. Document Number: HRSA Info. Ctr. MCHN063.

Keywords: Genetic screening, Health care financing, MCH programs, Neonatal screening, Screening, Sickle cell screening

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 at no charge from the Web site.

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

Annotation: This report addresses universal newborn hearing screening (UNHS). The report itself provides a brief explanation of the 13 points that need to be addressed in implementing and operating a successful early identification of hearing loss program for newborns. These points include: (1) enlisting support for the program, (2) determining an appropriate protocol, (3) procedural issues, (4) communicating with parents and staff, (5) training screeners, (6) keeping referral rates low, (7) managing data and patient information, (8) financing the program, (9) caring for equipment and supplies, (10) reporting, (11) completing audiological diagnosis and follow up, (12) coordinating with state systems, and (13) considering legislative mandates. The first volume of appendices are printed in a separate loosleaf volume, and contain information supporting the 13 points. The second volume of appendices are in a bound volume. [Funded by the Maternal and Child Health Bureau]

Contact: Maternal and Child Health Library at Georgetown University, Box 571272, Washington, DC 20057-1272, Telephone: (202) 784-9770 Fax: (202) 784-9777 E-mail: mchgroup@georgetown.edu Web Site: http://www.mchlibrary.info Available for loan; also available at no charge from the Web site. Document Number: HRSA Info. Ctr. MCHN020 (appendices 2nd vol.), MCHL027 (appendices), MCHK125 (report).

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• Report

Keywords: Hearing screening, Neonatal screening, Newborn infants, Program budgeting, Program development, Program management, Referrals, Reports, State legislation, State programs, Training

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 at no charge from the Web site.

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

Annotation: This protocol and procedures manual reflects the results of tasks completed by Alabama State Systems Development Initiative Project staff in an attempt to establish data linkages between calendar year 2000 Occurent Live Births for Alabama with Newborn Screening Billing Data for Alabama for the same period. The ultimate goal of this effort was to enable the Alabama Department of Public Health's Bureau of Family Services to make a valid estimate of the proportion of newborns being screened for metabolic disorders, hemoglobinopathies, or hearing impairment. The manual includes the following sections: (1) data linkage process, (2) current linkage process results, and (3) future annual linkage process. The manual also includes eight appendices, which contain information such as acronyms and abbreviated names, a primary linkage program flowchart, and more. [Funded by the Maternal and Child Health Bureau]

Keywords: Alabama, Data, Data linkage, Hearing disorders, Hearing screening, Hemoglobinopathies, Initiatives, Manuals, Metabolic diseases, Neonatal screening, Newborn infants, Protocols