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Quick Facts: Newborn Screening

Newborn screening (NBS) is a public health program that provides early identification and follow-up for treatment of infants affected by certain genetic, metabolic, hormonal and/or functional conditions. Except for hearing, screening tests are done using a few drops of blood from the newborn's heel, usually taken in the hospital 24 to 48 hours after birth.

Currently each state operates by law its own NBS program. Therefore, individual programs vary widely in the number and types of conditions for which they screen. In August 2004 the American College of Medical Genetics (ACMG) submitted a report - Newborn Screening: Toward a Uniform Screening Panel and System - to the federal Health Resources and Services Administration, identifying a nationwide standard for state NBS programs. The report includes a uniform panel of 29 conditions to be targeted by NBS programs, and endorsed by Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC). It also lists an additional 25 "secondary target" (report-only) conditions for which test results should be reported. These 25 conditions are not actively sought by NBS because they do not yet have documented treatments or there is limited knowledge of their natural history, but they are often revealed in the course of NBS for the 29 core conditions. States may also screen for additional conditions beyond the 54 cited in the ACMG report.

In May 2010, another disorder, severe combined immunodeficiency (SCID) was added to SACHDNC's Recommended Uniform Screening Panel and the Secretary of Health and Human Services adopted this full recommended panel as the national standard for newborn screening. In September 2010, screening for critical congenital heart disease (CCHD) using a non-invasive test called pulse oximetry to measure oxygen levels in newborns was recommended by SACHDNC to be added to this panel. The Secretary adopted the recommendation to add CCHD screening to the Recommended Uniform Screening Panel in September 2011 for a total of 31 core conditions.

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