Search Results: MCHLine

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.

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

Annotation: This fact sheet provides answers to frequently asked questions about sickle cell trait. It explains the differences between sickle cell trait and sickle cell disease; explains how someone acquires the trait and who is affected by it; explains the health complications that may result from having the trait; and describes the blood test that can determine whether or not someone has the trait. The fact sheet also provides statistics on the chances that a baby will acquire sickle cell trait, based on whether or not one or both parents have either the trait or the disease.

Contact: National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, Atlanta, GA 30329-4027, Telephone: (800) 232-4636 Secondary Telephone: (888) 232-6348 E-mail: [email protected] Web Site: http://www.cdc.gov/ncbddd Available from the website.

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Keywords: Blood and lymphatic diseases, Consumer education materials, Screening tests, Sickle cell disease, Sickle cell trait

Annotation: This website provides information on newborn screening primarily for expecting and new parents. Resources are also available for prenatal and pediatric health professionals, including information about dried blood spot storage and usage. The content is based on 2008 legislation (the Newborn Screening Saves Lives Act) to expand support, research, and education opportunities for newborn screening. The website is organized as follows: About Newborn Screening (newborn screening facts, genetic and family history, screening resources, conditions screened by state); What to Expect (before birth, testing procedure, responding to results, testing outcomes, and what happens to the blood sample); Find a Condition; and Living with Conditions (family experiences, talking about a diagnosis, advocacy and support groups, finding a specialist, insurance and planning, looking to the future). [Funded by the Maternal and Child Health Bureau]

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: Blood tests, Educational materials, Family support, Genetic services, Newborn infants, Resources for professionals, Screening, Special health care needs

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 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 report completes the data integration needs assessment and planning activities for the integration of newborn blood screening with other Utah public health childhood programs and systems. This report is in addition to the genetic services plan. Report contents include a summary of integration and history of the project, needs assessment approaches and findings, the planning approach and results, governance, critical success factors, assumptions and constraints, risks, and financial sources. Appendices include focus group participants and agenda, reports, an overview, and a list of acronyms. [Funded by the Maternal and Child Health Bureau]

Contact: Utah Department of Health and Human Services, Multi-Agency State Office Building, 195 North 1950 West, Salt Lake City, UT 84116, Telephone: (833) 353-3447 Web Site: https://dhhs.utah.gov Available from the website.

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Keywords: Service delivery systems, Blood tests, Children, Final reports, Genetic screening, Integrated information systems, Needs assessment, Neonatal screening, Program descriptions, Utah

Annotation: This study sought to evaluate the validity of the standard textbook recommendations for the clinical laboratory approach to the diagnosis of jaundice in newborn infants. Since standards of care are based on traditional recommendations, the study looked at the specificity, sensitivity, and positive predictive value of each of the routine laboratory tests recommended for the evaluation of jaundiced infants. The study was retrospective and utilized several data bases, supplemented with chart reviews. The results showed that the prevalence of unsuspected significant illness in jaundiced infants is low, and the available laboratory tests have low sensitivity and specificity. The authors concluded that most routine laboratory tests in jaundiced infants are seldom useful. [Funded by the Maternal and Child Health Bureau]

Contact: National Technical Information Service, O.S. Department of Commerce, 5301 Shawnee Road, Alexandria, VA 22312, Telephone: (703) 605-6050 Secondary Telephone: (888) 584-8332 E-mail: [email protected] Web Site: http://www.ntis.gov Document Number: NTIS PB93-179992.

Keywords: Blood tests, Hyperbilirubinemia, Infant screening, Jaundice, Newborns

Annotation: The purpose of this study was to screen all newborn infants in Colorado for cystic fibrosis (CF), using a dried blood spot assay for immunoreactive trypsinogen (IRT). Specific objectives included: (1) Improvement of the predictive value of a positive test by incorporating a new assay for immunoreactive lipase (IRL); (2) improvement of the reliability and ease of confirmatory testing by incorporating a new qualitative sweat test; and (3) identification of cases of CF for clinical and laboratory investigation of the disease during the first five years of life. The study design was primarily descriptive. The study was carried out from October 1984 through September 1987. Screening followed a two-tiered procedure. The study found that 90 percent positive tests on the initial specimen are false positives. An attempt to improve the predictive value of an initially elevated IRT by re-assaying the dried blood specimen for IRL was not successful. The researcher concluded that approximately 40 percent of the false positives in repeat blood specimens could be eliminated by addition of an IRL assay, but this advantage must be weighed against the additional cost. [Funded by the Maternal and Child Health Bureau]

Contact: National Technical Information Service, O.S. Department of Commerce, 5301 Shawnee Road, Alexandria, VA 22312, Telephone: (703) 605-6050 Secondary Telephone: (888) 584-8332 E-mail: [email protected] Web Site: http://www.ntis.gov Document Number: NTIS PB89-218622.

Keywords: Blood tests, Cystic Fibrosis, Infants, Neonatal screening, Newborn infants

Annotation: This project attempted to develop a sensitive and relatively inexpensive screening test for undue lead exposure which would facilitate the implementation of periodic screening and monitoring of preschool children for this important health problem. The project attempted to develop an assay using an already established uracil assay, with the modification that UPM would be added to agar medium. The project failed in its primary goal to develop a simple test on a dried blood spot specimen where an EP elevation had already been found. In the future, the researcher recommends that the same goal be pursued with a different approach. [Funded by the Maternal and Child Health Bureau]

Contact: National Technical Information Service, O.S. Department of Commerce, 5301 Shawnee Road, Alexandria, VA 22312, Telephone: (703) 605-6050 Secondary Telephone: (888) 584-8332 E-mail: [email protected] Web Site: http://www.ntis.gov Document Number: NTIS PB87-199071.

Keywords: Blood tests, Lead poisoning, Lead poisoning screening, Preschool children