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Month: October 2020

baby on Mothers shoulder

Inborn Errors of Metabolism Collaborative: Large-Scale Collection of Data on Long-Term Follow-Up for Newborn-Screened Conditions

Why is NBS data so crucial to the health and wellbeing of newborns? In the past, interventions used to treat many NBS conditions were chosen based solely upon the experiences of the medical professional(s) overseeing the patient. Without protocols based on clinical evidence, clinicians caring for patients with inborn errors of metabolism (IBEM), such as…
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22,000 children diagnosed

Foundation of the Newborn Screening Translational Research Network and its Tools for Research

More than two decades ago, dramatic efforts were begun to improve the Newborn Screening programs. With the development of new technologies, clinicians were able to begin screening for multiple disorders using a single platform. Challenges, nonetheless, still existed. One cannot characterize the full range of disease expression or discover genetic and environmental modifiers without the…
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Description of article with baby smiling

The Use of Residual Dried Blood Spots in a Study of Childhood Leukemia

Newborn screening for over sixty conditions in the United States enables early identification and treatment of infants with rare genetic disease.  Two of the conditions are screened using physiological tests in the newborn nursery, while the remaining conditions are detected from a blood sample collected on filter paper. Over 50% of states retain these samples…
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