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Newborn Disorders

Newborn screening programs in the U.S. began in the early 1960s with Robert Guthrie's development of the filter paper-based testing technology, still in use and known as the "Guthrie spot." The success of a pilot study that screened 400,000 newborns for PKU in 29 states, led to immediate adoption of PKU screening by many states. Every state now employs newborn screening on blood specimens to identify disorders that can, without early intervention, cause potentially serious illness, injury, or death. Recent advances in screening technology (e.g. tandem mass spectrometry or MS/MS) allow for rapid screening for many inborn conditions on very small samples of blood. In addition to blood-spot based screening, two point-of-care tests are recommended for inclusion in newborn screening: screening for congenital hearing loss and screening for critical congenital heart disease. Each state determines which conditions to include in newborn screening, with guidance from the US Secretary of Health and Human Services. Up-to-date information about state newborn screening panels and descriptions of the conditions is available at: Conditions Screened by State (Baby's First Test). The table below lists the conditions currently tested for in most states, with links to Newborn Disorder pages describing them.
Conditions are only included in newborn screening if early detection leads to improved outcomes. Therefore, it is critical to assure that all babies are tested and that the results of screening are carefully followed up. All newborn screening activities function as a partnership between state public health programs and health care providers. In many instances, if a highly abnormal newborn screening result is identified by the laboratory, the family may be contacted directly by the newborn screening program, prior to notification of any health care provider, to begin the process of evaluation and treatment. However, primary care clinicians are often responsible for informing families about screening results and for coordinating the care after a positive screen. This can be challenging because most primary care providers may have limited experience with the particular condition. To assist in this process, the American College of Medical Genetics has developed Newborn Screening ACT Sheets & Confirmatory Algorithms (ACMG), which provide guidance about the steps needed for confirmatory testing and initial management. Although the screening tests are highly specific, false positives occur. When providing positive screening results to families, it is critical to both explain the importance of follow-up to determine whether the newborn has the condition and to explain that false positives can occur and to reassure that a false positive has no health implications for the child. In all cases, the state newborn screening program is a highly valuable resource for helping with the initial management of a positive newborn screening result. To find information about each state's program, see National Newborn Screening and Global Resource Center (NNSGRC).
Primary care providers may also have to counsel families about the implication of carrier status, such as sickle cell trait. Although carrier status usually has no medical implications for the newborn, there may be important implications for the family. The pages in this section and the ACT sheets provide guidance about such management.
The real benefit of newborn screening occurs from the long-term management of conditions identified through newborn screening. Although the particular treatment varies by condition, the conditions identified through newborn screening are chronic and complex, and therefore require careful treatment plans and coordinated care between primary care providers and specialists. The Medical Home Workgroup of the National Coordinating Center for the Genetic and Newborn Screening Service Collaboratives (NCC) has recommended an approach to providing family-centered care for children identified through newborn screening programs. [Cooley: 2013]
For information about the conditions and links to more information for physicians and for parents, click the condition name in the table below. The table was adapted with permission from the Newborn Screening ACT Sheets & Confirmatory Algorithms (ACMG) page.


Information & Support

For Professionals

Baby's First Test
Site developed by the Genetic Alliance, with funding from the Maternal and Child Health Bureau, Health Resources and Services Administration, provides information for health care professionals and families about newborn screening, with links to state newborn screening programs, descriptions of conditions, and support and advocacy groups.

Genetic Alliance
A nonprofit health advocacy organization committed to transforming health through genetics and promoting an environment of openness centered on the health of individuals, families, and communities; their site provides access to myriad resources, services, policies, and publications.

Newborn Screening Coding and Terminology Guide (NLM)
Site sponsored by the National Library of Medicine to promote and facilitate the use of electronic health data standards in recording and transmitting newborn screening test results; includes standard codes and terminology for newborn tests and the conditions for which they screen, and links to other related sites.

Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children
This federal advisory committee makes recommendations about newborn screening policy, including which conditions should be included in newborn screening panels.


Newborn Screening Programs

See all Newborn Screening Programs services providers (3) in our database.

For other services related to this condition, browse our Services categories or search our database.

Helpful Articles

Kemper AR, Boyle CA, Aceves J, Dougherty D, Figge J, Fisch JL, Hinman AR, Greene CL, Kus CA, Miller J, Robertson D, Telfair J, Therrell B, Lloyd-Puryear M, van Dyck PC, Howell RR.
Long-term follow-up after diagnosis resulting from newborn screening: statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children.
Genet Med. 2008;10(4):259-61. PubMed abstract

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(5):1836-41. PubMed abstract

Tarini BA, Clark SJ, Pilli S, Dombkowski KJ, Korzeniewski SJ, Gebremariam A, Eisenhandler J, Grigorescu V.
False-positive newborn screening result and future health care use in a state Medicaid cohort.
Pediatrics. 2011;128(4):715-22. PubMed abstract / Full Text

Tarini BA.
Communicating with parents about newborn screening: the skill of eliciting unspoken emotions.
Arch Pediatr Adolesc Med. 2012;166(1):95-6. PubMed abstract


Author: Chuck Norlin, MD - 4/2007
Reviewing Authors: Alex R. Kemper, MD, MPH, MS - 3/2013
Nicola Longo, MD, PhD - 4/2007
Content Last Updated: 3/2013

Page Bibliography

Cooley WC, Kemper AR.
An approach to family-centered coordinated co-management for individuals with conditions identified through newborn screening.
Genet Med. 2013;15(3):174-7. PubMed abstract