Each year, 4.1 million newborns are screened for congenital disorders in the United States. Of these, 4,000 infants are diagnosed as having a condition. It is estimated another 1,000 infants that have conditions go undetected.1
The following resources are intended to promote comprehensive care through medical homes for children born with very rare inherited disorders diagnosed through newborn screening. By knowing more about these very rare disorders and the advantages of establishing medical home measures, the primary care physician can work with the child and family to develop a comprehensive plan of care. Such efforts provide opportunities to enhance successful outcomes and promote evidence-based care.
An ACTion (ACT) sheet that describes the short term actions a health professional should follow in communicating with the family and determining the appropriate steps in the follow-up of the infant that has screened positive, and
An algorithm that presents an overview of the basic steps involved in determining the final diagnosis in the infant.
Newborn Screening Fact Sheets for Providers
These newborn screening fact sheets were developed by the AAP Committee on Genetics with considerable assistance and consultation from many individuals. These fact sheets are designed to assist the pediatrician in understanding the individual tests, their characteristics, and their strengths and weaknesses.
Newborn Screening Fact Sheet for Providers and Families
The federal Maternal Child Health Bureau, Health Resources and Services Administration and health literacy researchers at Louisiana State University developed the following materials to help health care professionals provide parents with easy to understand newborn screening information.
A Look at Newborn Screening: Today and Tomorrow. Pediatrics (Supp). 2006;117(5):pp.i
Acharya K, Ackerman PD, Ross L.
Pediatricians' Attitudes Toward Expanding Newborn Screening.Pediatrics. 2005;116 e476-e484
Improving Newborn Preventive Services at the Birth Hospitalization: A Collaborative, Hospital-Based Quality-Improvement Project.Pediatrics. 2007; 120(3): 481-488
Kemper AR, Uren RL, Moseley KL, Clark SJ.
Primary Care Physicians' Attitudes Regarding Follow-up Care for Children With Positive Newborn Screening Results.Pediatrics. 2006; 118: 1836 - 1841.
King TM, Tandon SD, Macias MM, Healy JA, Duncan PM, Swigonski NL, Skipper SM, Lipkin PH.
Implementing Developmental Screening and Referrals: Lessons Learned From a National Project.Pediatrics. 2010;125(2);350-360
Reports and Documents
Recording: EHDI In States: What Does the CDC Data Show?
Date: Friday, March 15, 2013
Faculty: Marcus Gaffney, MPH and Jack Levine, MD, FAAP
This Webinar presents an overview of the information AAP EHDI Chapter Champions need to know to locate and interpret national and state-specific EHDI data, including data related to the rate of loss to follow-up/documentation (LTF/D) within their specific state/chapter. Awareness of state data will help to inform the work that champions engage in at the state/chapter level so that they may be more strategic and can address needs based on data.
American College of Medical Genetics
The ACMG provides education, resources, and a voice for the medical genetics profession. To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat, and prevent genetic diseases.
Baby's First Test
This Web site, produced by the Genetic Alliance and partners with support from the HRSA/MCHB, is a newborn screening information resource center—specifically for parents and the public—based on 2008 legislation (the Newborn Screening Saves Lives Act). The site aims to expand support, research, and education opportunities for newborn screening.
Centers for Disease Control and Prevention Newborn Screening
This Web site provides resources and links to programs on newborn and genetic screening
Genetic Alliance increases the capacity of genetic advocacy groups to achieve their missions and leverages the voices of millions of individuals and families living with genetic conditions.
Genetics Home Reference
The Web site includes over 500 topics on genetic conditions and related genes, and features a richly illustrated tutorial that explains the basics of genetic terms. The Genetics Home Reference also features tools and resources for patients and families, educators, other health professionals and more.
March of Dimes
The mission of the March of Dimes is to improve the health of babies by preventing birth defects, premature birth, and infant mortality. This mission is carried out through research, community services, education, and advocacy to save babies' lives. March of Dimes researchers, volunteers, educators, outreach workers, and advocates work together to give all babies a fighting chance against the threats to their health: prematurity, birth defects, and low birth weight.
National Coordinating Center for the Regional Genetics and Newborn Screening Service Collaboratives
In 2004, the Maternal and Child Health Bureau of the Health Resources and Services Administration (MCHB/HRSA), Genetic Services Branch (GSB) awarded grants to establish seven Genetics and Newborn Screening Regional Collaborative Groups (RCs) and a National Coordinating Center (NCC) as part of on-going efforts to improve the health of children and their families by promoting the translation of genetic medicine into public health and health care services. The NCC is formed as a partnership with the GSB/MCHB/HRSA through a cooperative agreement with the American College of Medical Genetics (ACMG). The NCC is organized around a central office and an advisory committee. The advisory committee includes the seven RCs and representatives of national organizations that serve as resources to the NCC and the RCs.
The National Office of Public Health Genomics (NOPHG)
This site provides updated information on how human genomic discoveries can be used to improve health and prevent disease.
National Newborn Screening and Genetic Resources Center
This resource center provides an introduction and history of newborn screening, as well as a list of routine disorders with explanations.
View US State Map With NBS Program Links
1Overview of NBS Programs: State of the States. Briefing presented at the first meeting of the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children; June 7-8, 2004; Washington, DC.
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