The Newborn Screening Program
A Newborn Screening Program (NBS) has been in place in the state of
California since 1965. Since the beginning, well over 9,000,000 infants have had their
blood tested for one or more disorders. The program initially tested for Phenylketonuria
(PKU).
During these 33 years, there have been 330 California babies identified with the classical
PKU disorder for an incidence of one per 25,000 births. An equal number of variants of PKU
were also noted.
Without treatment to stop the build up of phenylalanine, an amino acid, a person afflicted
with classical PKU most often becomes progressively brain damaged. With the knowledge that
a specific newborn has the PKU disorder, treatment can be implemented to minimize any
further damage to the infants brain.
Since 1980, the NBS testing program has also included Hypothyroidism and Galactosemia. In
17 years, there have been 2,761 California infants identified with primary congenital
Hypothroidism. Further expansion of the NBS occurred in 1990 when hemoglobin abnormalities
were added to the testing program.
Dakota Turner, a newborn in our family, is resting his heel following
giving a few drops of blood for the newborn screening program.
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November / December 1998
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