The field of newborn screening continues to evolve. Arizona uses the latest evidence to help improve its newborn screening system. Below are some examples of evidence supporting Arizona’s program. To search many more peer-reviewed and independent articles, try Internet search engines such as www.scholar.google.com and www.pubmed.gov. 


Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary [PDF 436K]
American College of Medical Genetics Newborn Screening Expert Group
Pediatrics 2006;117;296-307

The Maternal and Child Health Bureau commissioned the American College of Medical Genetics  to outline a process of standardization of outcomes and guidelines for state newborn screening programs and to define responsibilities for collecting and evaluating outcome data, including a recommended uniform panel of conditions to include in state newborn screening programs. The expert panel identified 29 conditions for which screening should be mandated. An additional 25 conditions were identified because they are part of the differential diagnosis of a condition in the core panel, they are clinically significant and revealed with screening technology but lack an efficacious treatment, or they represent incidental findings for which there is potential clinical significance. The process of identification is described, and recommendations are provided.


American Academy of Pediatrics Newborn Screening Task Force Recommendations: How Far Have We Come? [PDF 300K] 
Michele A. Lloyd-Puryear, Thomas Tonniges, Peter C. van Dyck, Marie Y. Mann,
Amy Brin, Kay Johnson and Merle McPherson
Pediatrics 2006;117;194-211

The partnership of the Health Resources and Services Administration (HRSA)/ Maternal and Child Health Bureau (MCHB) and the American Academy of Pediatrics (AAP) for improving health care for all children has long been recognized. In 1998, the establishment of the Newborn Screening Task Force marked a major initiative in addressing the needs of the newborn screening system. At the request of HRSA/MCHB, the AAP convened the task force to ensure that pediatric clinicians assumed a leadership role in examining the totality of the newborn screening system, including the necessary linkage to medical homes. The task force’s report, published in 2000, outlined major recommendations for federal, state, and other national partners in addressing the identified barriers and needed enhancements of the care delivery system. Today, manifestations of the task force’s recommendations are evident, many of which occurred under the leadership of HRSA/MCHB and the AAP. These activities are detailed in this article, with a discussion of future progression toward a quality, consistent, coordinated system of care for children identified with positive newborn screening results, their families, and the child health professionals who care for them.


A Vision of the Future of Newborn Screening [PDF 236K]
Duane Alexander and Peter C. van Dyck
Pediatrics 2006;117;350-354

In 40 years, newborn screening has evolved to become a standard component of preventive public health. Despite its widespread acceptance, efforts need to be made to overcome some significant problems. There is inequity in the conditions for which states screen routinely, and many conditions that could be screened for are not, for economic or logistic reasons. Existing (tandem mass spectrometry) and potential (DNA microarray) technologies could be developed and put in place to correct these existing shortcomings. To do so will require investment in the technologies, combined with public and professional education and provision of a high-quality, accessible system for confirmation of diagnoses, family counseling, initiation of treatment, and the opportunity to participate in research to develop new or improved therapies.


Newborn Screening for Genetic and Endocrine Disorders [PDF 64K]
(Screening, Medical Foods, and Treatment)
Evidence Statement: Child Health Promotion
A Purchaser’s Guide to Clinical Preventive Services
National Business Group on Health

Review of the Clinical Preventive Services Recommendations by various Federal agencies and independent organizations.


Newborn Hearing (Screening) [PDF 56K]
Evidence Statement: Child Health Promotion
A Purchaser’s Guide to Clinical Preventive Services
National Business Group on Health

Review of the Clinical Preventive Services Recommendations by various Federal agencies and independent organizations.