Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 158A, Issue 5, Pages 1118-1123Publisher
WILEY
DOI: 10.1002/ajmg.a.35312
Keywords
phenylketonuria (PKU); maternal phenylketonuria maternal (PKU); newborn screening; United States births
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Newborn PKU screening has been available since the mid-1960s, and the first group of screened babies is now a complete reproductive cohort (age 1544). Untreated maternal PKU (MPKU) often results in significant developmental and physical disabilities in exposed fetuses, and could potentially offset some or all of the benefits produced by newborn PKU screening and dietary treatment. Based on the age distribution of the United States population in 2009, and using different estimates of PKU frequency (1/10,000; 1/15,000; 1/20,000), the projected number of babies born to women with PKU was compared to the projected number of babies born with PKU. In 2009, there were about 62,000,000 women age 1544, with a fertility rate of 66.7 births/1,000 women. Of these women, depending on the incidence of PKU, 3,0976,195 were estimated to have PKU, and they would have delivered 207413 babies. In that same year, the number of births was 4,118,055, which would have resulted in 206412 babies with PKU. Thus, in the United States, at all estimates of PKU frequency, the number of babies exposed to MPKU is equal to the number of babies born with PKU. This ratio varies with the fertility rate but is not dependent on the incidence of PKU. The benefits of newborn PKU screening and treatment could be significantly curtailed if adequate resources, education, and funding are not available to follow and monitor women with MPKU and their babies. (c) 2012 Wiley Periodicals, Inc.
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