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The following table describes 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. By clicking on either the ACT sheet or Algorithm for a particular condition in the column labeled "Links," you will be linked to the corresponding materials.
The algorithms were developed by a work group that included experts in the various specialties and conditions involved in newborn screening for endocrine, hematological, genetic and metabolic diseases. The first page of the ACT sheets includes information that was developed by the experts. It includes links to informational resources to allow the health professional to obtain additional information, if needed. The second page of the ACT sheet includes links to web sites that allow one to identify subspecialists for consultation and referral for the condition(s) described in the ACT sheet. It is supplemented with links to your State Newborn Screening Program and is available for the inclusion of additional health professionals who may be consulted in your area.
All materials were approved by the Board of Directors of the American College of Medical Genetics and Genomics (ACMG) on December 28, 2009. The materials will be maintained by ACMG over time and additional materials added as new conditions are introduced into newborn screening programs. The project was partially funded through grant U22MC03957 from the Maternal and Child Health Bureau (MCHB) of the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services.
Disclaimer: The ACT sheets and algorithms are designed primarily as educational resources for physicians to help them provide quality medical services, and adherence to them does not necessarily ensure a successful medical outcome. The ACT sheets and algorithms should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient’s record the rationale for any significant deviation from these ACT sheets and algorithms.
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