Newborn screening is a state-based, mandatory, public health program that facilitates presymptomatic testing of all newborn babies in the United States for a variety of health conditions. The goal of the program is to reduce the morbidity and mortality of these disorders by employing early intervention treatments to improve the overall outcome and survival of affected babies. The United States NBS program screens around 4 million newborns each year and is the most expansive genetic screening program in our country.
Note: ACMG provides ACTion (ACT) sheets to assist healthcare professionals | ACT sheets provide algorithms to help counsel patients and determine next steps for disease confirmation (see ‘Learn More – Primary Sources’ below to access the ACT sheets)
Note: Newborn screening does not replace the requirement to offer carrier screening to pregnant women or those considering pregnancy
ACOG Committee Opinion 778: Newborn Screening and the Role of the Obstetrician–Gynecologist
Full List of NBS Resources can be found at the US National Library of Medicine
ACMG: Act Sheets and Algorithms
Advisory Committee on Heritable Disorders in Newborns and Children: Recommended Uniform Screening Panel
Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years
The Current State of Newborn Screening in the United States
Maternal Fetal Medicine Specialist Locator-SMFM
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