Advances in Human Genetics by Harvey L. Levy (auth.), Harry Harris, Kurt Hirschhorn (eds.)

By Harvey L. Levy (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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Hence mass screening for PKU was launched. Over the next few years PKU screening programs were developed in most areas of the United States and in many other countries (Table V). 41° Most of these laws required that PKU testing be performed on virtually every newborn in the state. Incidence and Ethnic Distribution Since the onset of mass screening for PKU at least 13,538,912 newborns have been so tested and at least 1186 have been found to have PKU, an incidence of 1 :11,500 (Table V). However, as noted in Table V, the incidence of PKU as determined by mass screening may vary widely from one country to another.

Levy had an initial blood phenylalanine concentration as low as 4 mg/IOO ml. 266 Consequently in 1968 the follow-up blood specimen was no longer requested in Massachusetts, and in its place was substituted a urine specimen as described elsewhere in this chapter. Furthermore, the Massachusetts laboratory began requesting repeat blood specimens on each infant whose initial blood phenylalanine concentration was greater than 2 mg/IOO ml,265 though most laboratories, particularly those which obtain routine "follow-up" blood specimens, request repeat blood tests only when the initial phenylalanine concentration is greater than 4 mg/ 100 ml.

Other groups are performing urine testing but the results so far are limited in scope, • The preferred method of such impregnation is to press urine from a clean but wet portion of the diaper into the paper. An alternative method is to insert the dry paper into the diaper and remove following urination. 23 Chapter 1: Genetic Screening N__________________ METABOLIC DISORDERS LABORATORY Ut'ine S:-:clmen 3 _4 wk •• Cat. 1 .... , D. Not Un Ink N~ ______________________________________ Blrt" D... _ _ _ _ _ HOlp.

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