About Newborn Screening Newborn Screening Community
Health Resources and Services Administration (HRSA)
HRSA, an agency of the U.S. Department of Health and Human Services, is the primary Federal agency for improving access to health care services for people who are uninsured, isolated or medically vulnerable.
Centers for Disease Control and Prevention (CDC)
CDC, an agency of the U.S. Department of Health and Human Services (HHS), is dedicated to protecting health and promoting quality of life through the prevention and control of disease, injury, and disability. This agency is committed to programs that reduce the health and economic consequences of the leading causes of death and disability, thereby ensuring a long, productive, healthy life for all people.
Newborn Screening Quality Assurance Program (NSQAP)
CDC developed the NSQAP to help state health departments and their laboratories maintain and enhance the quality of test results. The program is operated in partnership with the Association of Public Health Laboratories (APHL). It has been the only comprehensive source of essential quality assurance services for dried-blood-spot testing for more than 33 years.
To read more about CDC’s Newborn Screening Quality Assurance Program (NSQAP), visit their website.
National Institutes of Health (NIH)
NIH, an agency of HHS, is the nation’s medical research agency that makes important discoveries that improve health and save lives.
National Institute of Child Health and Human Development (NICHD)
NICHD conducts and supports research on topics related to the health of children, adults, families, and populations. Their role in the newborn screening community is: to develop systematic methods for identifying additional conditions for newborn screening, develop and test innovative treatments and strategies to improve outcomes, educate providers about newborn screening, create and implement communication systems for newborn screening, and sponsor research and research training programs.
For more information on the activities of NICHD, please visit their website.
Office of Rare Diseases Research (ORDR)
ORDR, within the Office of the Director at NIH, coordinates and supports research on rare diseases, responds to research opportunities on rare diseases, and provides information on rare diseases for patients.
Genetic and Rare Diseases Information Center (GARD)
GARD is a collaborative effort of two sections of the NIH, ORDR, and the National Human Genome Research Institute (NHGRI). It aims to help people find useful information about genetic conditions and rare diseases. Their website contains condition-specific information on each of the genetic disorders identified through newborn screening.
National Library of Medicine (NLM)
NLM, located on the campus of NIH in Bethesda, Maryland, is the world's largest medical library. The Library collects materials and provides information and research services in all areas of biomedicine and health care.
- Newborn Screening Coding and Terminology Guide
The goal of the Newborn Screening Coding and Terminology Guide is to promote and facilitate the use of electronic health data standards in recording and transmitting newborn screening test results. Their website includes standard codes and terminology for newborn tests and the conditions for which they screen, and links to other related sites. The codes and vocabulary standards are provided in a series of tables that you can view on the Web and/or download for your own use. These tables cover conditions recommended for screening by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) or by a state within the U.S.
MedlinePlus aims to provide consumer-friendly information about diseases, conditions, and wellness issues. Their website offers a wide variety of newborn screening resources including an interactive tutorial available in both English and Spanish. Previously known as Genetics Home Reference, MedlinePlus Genetics provides consumer-friendly information about the effects of genetic variations on human health. Their website contains descriptions of each disorder detected through newborn screening.
Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC)
ACHDNC was chartered in February 2003 to serve the Secretary of HHS regarding the most appropriate application of universal newborn screening, technologies, policies, guidelines and standards for effectively reducing morbidity and mortality in newborns and children who have, or are at risk for, heritable disorders.
For more specific information on ACHDNC’s role in the newborn screening community, please visit their website.
American College of Medical Genetics (ACMG)
ACMG is an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors, and other health care professionals committed to the practice of medical genetics.
- ACT Sheets and Confirmatory Algorithms
The ACMG website offers resources to help physicians provide quality medical services. Foreach marker used in newborn screening, 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.
For access to these resources, please visit the ACMG website.
Association of Public Health Laboratories (APHL)
APHL is a national nonprofit dedicated to strengthening laboratories with a public health mandate.
Newborn Screening and Genetics Programs
Each year, state and territorial public health laboratories test over 97% of the four million babies born in the U.S. for genetic and inherited disorders. Because of their efforts, approximately 3,000 babies with severe disorders are identified annually. APHL’s Newborn Screening and Genetics Program strengthens the role of public health laboratories in genetics testing and designs strategies to address changes in the newborn screening testing field.
To learn more about this program, visit the APHL website.
American Congress of Obstetricians and Gynecologists
American Congress of Obstetricians and Gynecologists is an organization of over 52,000 members committed to advocating for quality health care for women and promoting patient education.
American Academy of Pediatrics
The American Academy of Pediatrics is an organization of 60,000 pediatricians committed to the attainment of optimal physical, mental, and social health and well-being for all infants, children, adolescents, and young adults.
- Newborn Screening Fact Sheets
Newborn screening fact sheets were developed by the Committee on Genetics of the American Academy of Pediatrics to assist pediatricians in understanding individual genetic tests, their characteristics, and their strengths and weaknesses.
To access these factsheets, click here.
Advocacy and Information Groups
National Coordinating Center (NCC) for the Regional Genetics Networks (RGNs)
The RGNs work to strengthen and support the genetics and newborn screening capacity of the states using a regional approach to address the maldistribution of genetic services and resources. NCC serves as the primary vehicle for: information sharing among the RGNs; the collaborative development, implementation, and dissemination of projects of interregional and national significance; and the evaluation of RGN activities.
For more information regarding the activities of your RGN, visit the National Coordinating Center for Regional Genetics Networks’ website.
National Newborn Screening and Genetics Resources Center (NNSGRC)
NNSGRC is a cooperative agreement between the Maternal and Child Health Bureau (MCHB), the Genetic Services Branch, and the University of Texas Health Science Center at San Antonio, Department of Pediatrics. It provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers, and government officials.
To view the information and resources available through NNSGRC, visit the website.
- National Newborn Screening Information System (NNSIS)
NNSIS is an online database, hosted by NNSGRC, designed to provide a secure, Internet-based, and real-time information collection and reporting system for capturing state and territorial newborn screening information.
March of Dimes
The March of Dimes has long supported research, professional and consumer education, and advocacy related to newborn screening. Their website contains many resources regarding prenatal and neonatal care, including helpful information on newborn screening.
To watch their video, entitled “A Parent’s Guide to Newborn Screening,” click here.
PeriStats is an online source for perinatal statistics developed by the March of Dimes. Condition-specific maps and tables on the status of newborn screening in the U.S. are updated regularly with data from the NNSGRC.
Check the PeriStats website frequently to find updates on newborn screening status in your state.
Save Babies through Screening Foundation
The Save Babies through Screening Foundation is a national non-profit organization devoted exclusively to the advocacy of newborn screening. It aims to improve the lives of children by working to prevent death and disability resulting from disorders detectable through newborn screening. The foundation supports, assists and advocates for disorders that are detectable through filter paper newborn screening. These conditions are unlikely to be clinically diagnosed without screening. When left untreated, these disorders cause intellectual disability, physical disability and/or death in childhood.
For more information on the activities of this foundation, visit the Save Babies through Screening Foundation website.
The Screening, Technology and Research in Genetics (STAR-G) Project
STAR-G Project is a multi-state collaborative effort, led by the Hawaii Department of Health, to obtain research data, identify strategies, and develop materials for addressing the financial, ethical, legal, and social issues surrounding the use of tandem mass spectrometry for neonatal metabolic screening of culturally and ethnically diverse populations. The STAR-G website contains a wealth of newborn screening resources, including condition-specific newborn screening factsheets designed for new parents.
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Last Reviewed - 03/10/2023
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