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

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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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Last Updated : Friday, April 22, 2022