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Newborn
Screening Overview
4.1 million newborns are screened annually for
congenital disorders in the United States. Of these, 4,000
infants are diagnosed as having a condition and it is estimated
that 1,000 infants have conditions that go undetected. 1
The information on this site is 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.
What is a Medical Home? It's an approach for providing comprehensive primary
health care.
A Medical Home:
- promotes a relationship in which family members and
professionals work together to ensure the best services
for the child and the family.
- recognizes and respects the knowledge, skills and experience
that families and professionals bring to the relationship.
- facilitates open communication so that families and
professionals feel free to express themselves.
- creates an atmosphere in which cultural traditions,
values and diversity of families are acknowledged and
honored.
The Medical Home model promotes proactive health care
coordination, where primary care providers and families
collaboratively engage in assessing and planning to meet
a child's health care needs. Primary care physicians utilize
policies, practice guidelines, and standards of care to
anticipate needs and coordinate care.
In a Medical Home, a primary care provider works in partnership
with the family/patient to assure that all medical and
non-medical needs of the patient are met. Through this
partnership, the primary care provider can help the family/patient
access and coordinate specialty care, educational services,
out-of-home care, family support, and other public and
private community services that are important to the overall
health of the child/youth and family.
Featured Information
 Medial Home/Genetics Visiting Professorship
Pilot Program
The American Academy of Pediatrics National Center for
Medical Home Initiatives for Children with Special Needs
and the American College of Medical Genetics’ National
Coordinating Center for the Regional Genetics and Newborn
Screening Service Collaboratives (NCC) in partnership with
the ACMG and MCHB recently developed a pilot visiting professorship
program. This program focuses on the specific topic areas
of genetics and medical home and also establishing linkages
between Regional Genetics and Newborn Screening Services
Collaboratives (RCs) and AAP Chapters.
The Congratulations to Pilot
Program-Visiting Professorship Winners:
Medical Home Visiting Professorships
Mountain States Regional Collaborative (AZ, CO, MT, NM,
NV, TX, UT, & WV)
Region 4 Collaborative (IL, IN, KY, MI, MN, OH, & WI)
Western States Regional Collaborative (AK, CA, Gaum, HA,
ID, OR, & WA)
Genetic Visiting Professorships
Illinois Chapter
Georgia Chapter
Montana Chapter
New York 3 Chapter
Uniformed Service West Chapter
Newborn
Screening Authoring Committee. 2007. Newborn
screening expands: Recommendations for pediatricians and
medical homes -- Implications for the system. Pediatrics 121(1):192-218.
Newborn
Screening ACT Sheets for Pediatricians
www.acmg.net/resources/policies/ACT/condition-analyte-links.htm
This website has a table describing the interrelationships between the conditions
screened in newborn screening laboratories and the markers (analytes) used for
screening. For each marker(s), there is 1) 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 2) an algorithm that presents an overview
of the basic steps involved in determining the final diagnosis in the infant.
Early Intervention
Increasingly, the benefits of early identification and
treatment on child health outcomes are being proven. A
child's primary healthcare professional's ability to perform
continuous surveillance and structured screening within
the context of a routine, well-child care visit provides
an opportunity to identify special health care needs. However,
once a child is identified with having a special health
care need, appropriate diagnosis and follow-up must readily
occur. It is in this "next step" phase that the relationship
between the medical home and an Early Intervention program
becomes critical.
More Information on Early Intervention
1. Overview 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.
2. American Academy of Pediatrics
Newborn Screening Task Force. Serving the family from birth
to the medical home. Newborn screening: a blueprint for
the future - a call for a national agenda on state newborn
screening programs. Pediatrics. 2000;3:143-155
*This page includes resources that have compiled to
date. If you would like to suggest additional resources
to be added please sent them to screening@aap.org for
review.
* External Resources are not a part of the AAP.ORG
Web site. AAP is not responsible for the content of sites
that are external to the AAP. Linking to a Web site does
not constitute an endorsement by AAP of the sponsors
of the site or the information presented on the site.
Last Updated
July 25, 2008
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