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- W93060230 abstract "SINCE January 1965 New York State public health law has required that all newborn infants be tested for phenylketonuria in accordance with regulations of the State commissioner of health. These regulations prescribe the Guthrie inhibition assay procedure (1) as the only test currently fulfilling the legal requirement. In New York State 99.2 percent of all live births occur in hospitals, and the statute and implementing regulations are hospital oriented. However, there is specific provision for testing an infant born outside a hospital and not subsequently admitted to one. Infants must be tested early enough in life so that those with elevated blood phenylalanine levels can be investigated as rapiidly as possible, but because the available tests require ani adequate level of protein intake by the subject, they must be tested late enough to yield valid results. Infants are captive only for their immediate postnatal hospitalization, ordinarily 3-4 days. The relative rarity of hyperphenylalanemia poses an additional problem because a laboratory may not find a positive result in less than 1,000 determinations. In a nationwide survey, only a few laboratories detected all of 75 true positive specimens submitted for evaluation by the Guthrie inhibition assay procedure. A subsequent evaluation revealed that only 16 of 36 laboratories were able to correctly detect all 25 positives in 100 specimens. This work pointed up the desirability of centralizing the laboratory phase of the program. Accordingly, the laboratory of the New York City health department; the division of laboratories and research of the State department of health, Albany; the laboratory of the Onondaga County health department, Syracuse; and the Erie County Laboratory, Buffalo, were designated to make the required tesits. Each of these laboratories processes from 2,000 to 10,000 specimens every month. Thus a presumptive positive, defined in our program as a specimen with 4 mg. per 100 ml. or greater, occurs often enough to keep the technical personnel acquainted with the appearance of such a test result. In the 18 months preceding enactment of the law, more than 400,000 infants were screened for PKU using the Guthrie inhibition assay proicedure in Newv York State and elsewhere (2). In addition to the blood test taken on the day of the infant's discharge from the hospital, each mother was asked to submit a piece of special filter paper saturated in the urine of the infant when he was 3 weeks old and mail it to the laboratory that analyzed the blood specimen. About 300,000 such urine specimens were examined. No case of PKU which had not been identified by the blood test was identified by the examination of the urine specimen. We did not the,refore consider it necessary to require routine blood or urine tests in addition to the test of the specimen taken at discharge. When the regulation was adopted, there were a number of additional methods for mass screening. The Guthrie method, however, was judged most suitable because specimens were readily and inexpensively transmitted to the Dr. Katz is director, bureau of maternal and child health, and Dr. Harro is assistant commissioner, division of preventive services, New York State Department of Health, Albany." @default.
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- W93060230 date "1968-05-01" @default.
- W93060230 modified "2023-09-23" @default.
- W93060230 title "Screening for PKU in New York State." @default.
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