Newborn Screening

With these new test platforms, there is the potential to test for hundreds of conditions we don't fully understand - Lainie Friedman Ross

Newborn Screening
Newborn Screening

image by: Maile and Justin McCarthy

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Perils of Newborn Screening

The first symptoms often appear a month or two after birth. The babies' muscles stiffen. They lose their hearing and vision, stop sleeping and scream in pain. Some develop seizures. By the time many parents learn that their children have Krabbe disease—a rare genetic disorder that degrades nerve cells—it is too late for the only viable treatment, a transfusion of umbilical cord blood stem cells from healthy donors. Children with full-blown Krabbe who do not receive medical treatment, as well as many who do get treated, usually die by age two.

In some cases, doctors can prevent this grim outcome by screening infants at birth for genetic harbingers of disease. Right now such tests…

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Resources

 Perils of Newborn Screening

Doctors may be testing infants for too many diseases.

5 Newborn Tests And Treatments Your Baby In NICU Probably Doesn't Need

That’s not to say the tests and treatments in the list below should never be used. Rather, they should be ordered when there is a reason to do so instead of simply being the default

Baby's First Test

Baby's First Test houses the nation's newborn screening clearinghouse. The clearinghouse provides current educational and family support and services information, materials, and resources about newborn screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.

Newborn Screening Portal

Newborn screening identifies conditions that can affect a child's long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential.

NewbornScreening.info

Expanded newborn screening using new technologies.

The Robert Guthrie Legacy Project

Dr. Robert Guthrie (1916-1995) is the American scientist who launched the field of newborn screening, credited with saving tens of thousands of infants worldwide from irreversible brain damage and death. This website is dedicated to telling his personal and professional journeys, to preserving archival material only found in print and to consolidating the many references found about him online.

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