domingo, 22 de julio de 2012

Perils of Newborn Screening: Scientific American

Perils of Newborn Screening: Scientific American

Perils of Newborn Screening

Doctors may be testing infants for too many diseases



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.

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