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A Progress Report for Newborn Screening

Testing babies at birth helps spot rare diseases in time to help.

newborn in a hospital bassinet

Testing a few drops of blood can make the difference between a newborn growing up healthy or struggling with a devastating disease.

“Newborn screening is a public health priority to prevent premature illness and death,” said Jose Abdenur, chief of the division of metabolic disorders at CHOC Children’s Hospital in Orange County, California.

Abdenur was part of a recent webinar presented by the National Organization for Rare Disorders (NORD) in honor of Newborn Screening Awareness Month. NORD brought together a panel of experts to present a progress report on newborn screening.

Thanks to the work of doctors, scientists and advocates, the RUSP (Recommended Universal NBS Screening Panel) now includes 35 core conditions and 26 secondary conditions, Abdenur said. Screenings are done automatically between 24-48 hours after birth. Not all states test for the same disorders and some states, such as California, allow parents to opt out of testing.

The tests can detect conditions that are asymptomatic in newborns, like Severe Combined Immunodeficiency (SCID). The condition can be treated with a bone marrow transplant. Without care, people with SCID can experience serious, life-threatening infections. Abdenur said one in 55,383 babies screened in California tested positive for SCID.

More screening is helping to reveal the true prevalence of SCID and other rare diseases. A decade ago, experts believed one in 100,000 newborns had SCID. Today, the estimate is one in 40,000, according to the Immune Deficiency Foundation, which successfully advocated for newborn screening for SCID in all 50 states. That milestone was reached in 2018.

Danyelle Sun is the mom of two children with spinal muscular atrophy, an inherited neurodegenerative disease that impacts all the muscles in the body, including muscles needed for breathing and digestion. She said testing allows parents to seek preventative treatments that are available for their children.

“Their ability to be connected to a treatment team right away makes a world of difference. It changes lives,” said Sun, a NORD ambassador and advocate in Wisconsin. “It can make the difference between a child being able to breathe on their own, move on their own.”

Rachel Sher, NORD’s vice president of regulatory and government affairs, said the reauthorization of the Newborn Screening Saves Lives Act is currently in the works. H.R. 2507 has been passed in the House of Representatives but has not yet been approved by the Senate. Former President Barack Obama signed the legislation in 2014 to bring screening guidelines and comprehensive screening to every state.

Programs created by the act continue to function, but re-enactment is needed to ensure continued funding.