Newborn Screening Saves Lives: What Parents Need to Know

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Do you know how many GeneticDisorders Newborns are tested for in your state? Find out about what to look for and how parents can advocate for their newborns 👶

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Elisa Seeger's son Aidan was 6 1/2 years old when he started having vision problems. Seeger thought her son just needed glasses, but after what she calls a"diagnostic odyssey," going from one specialist to another, she learned that he had a rare genetic neurological disorder called. The once active first grader, who loved sports and was a good student, soon lost his ability to function. A year later, in 2012, he died.

"The hallmark of newborn screening is that we can detect something in newborns that's unobservable, but by looking at either physiological or blood-based tests, we can determine that a disease is there and intervene," said, associate director of the Newborn Screening Translational Network at the American College of Medical Genetics and Genomics.

"The main goal is to get that diagnosis as quickly as possible in the hands of the parents, the pediatrician and individuals who can make the choices for care and treatment of that newborn with the goal of saving their lives and optimizing outcomes," Brower said., of which Brower is a member, maintains and updates a list of disorders that it recommends for screening, called the Recommended Uniform Screening Panel .

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