Skip Navigation

Strengthen the Evidence for Maternal and Child Health Programs

Sign up for MCHalert eNewsletter

Search Results: MCHLine

Items in this list may be obtained from the sources cited. Contact information reflects the most current data about the source that has been provided to the MCH Digital Library.

Displaying records 1 through 3 (3 total).

Georgia Division of Public Health, Georgia Newborn Screening Program. 2004. Georgia newborn screening manual for metabolic diseases and hemoglobinopathies. Atlanta, GA: Georgia Newborn Screening Program, Georgia Division of Public Health, 54 pp.

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.

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

American Academy of Pediatrics. 2002. A compendium of resources on newborn screening policy and systems development. Elk Grove Village, IL: American Academy of Pediatrics, 61 pp.

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 Resource Center for Patient/Family-Centered Medical Home, American Academy of Pediatrics, 345 Park Boulevard, Itasca, IL 60143, Telephone: (847) 434-7605 Secondary Telephone: (800) 433-9016, ext. 7605 Web Site: https://www.aap.org/en/practice-management/medical-home

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

Pass K. 1989. Pilot Screening for Biotinidase Deficiency in Newborns [Final report]. Albany, NY: New York State Department of Health, 37 pp.

Annotation: The goal of this study was to evaluate screening for biotinidase deficiency for incorporation into the panel of newborn screening tests in New York State. It was recommended that Biotinidase deficiency demonstrates many of the requisites for inclusion in a newborn screening program for reasons including the assay is suitable for high-volume screening; the rate of false positives is low; no false negatives were identified; the frequency of biotinidase deficiency is within the frequency range of disorders in current screening programs; cases of biotinidase deficiency were identified in the three largest ethnic categories of the population; treatment and followup are simple, inexpensive, and effective; early intervention can prevent irreversible clinical sequelae which would otherwise lead to lifetime disability or early death. [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 PB89-230817.

Keywords: Biotinidase Deficiency, Colorimetric Testing, Hypothyroidism, Metabolic Disorders, Neonatal Screening, Newborns, Phenylketonuria (PKU)
   

This project is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) under grant number U02MC31613, MCH Advanced Education Policy, $3.5 M. This information or content and conclusions are those of the author and should not be construed as the official position or policy of, nor should any endorsements be inferred by HRSA, HHS or the U.S. Government.