Hereditary Cancer Clinic, Swedish Medical Center, Seattle, Washington 98104, USA.
Am J Med Genet A. 2012 May;158A(5):1118-23. doi: 10.1002/ajmg.a.35312. Epub 2012 Apr 11.
Newborn PKU screening has been available since the mid-1960s, and the first group of screened babies is now a complete reproductive cohort (age 15-44). 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 15-44, with a fertility rate of 66.7 births/1,000 women. Of these women, depending on the incidence of PKU, 3,097-6,195 were estimated to have PKU, and they would have delivered 207-413 babies. In that same year, the number of births was 4,118,055, which would have resulted in 206-412 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.
新生儿苯丙酮尿症（PKU）筛查自 20 世纪 60 年代中期就已普及，现第一批接受筛查的婴儿已完全进入生育年龄（15-44 岁）。未经治疗的母体 PKU（MPKU）会导致暴露胎儿出现严重的发育和身体残疾，并可能抵消新生儿 PKU 筛查和饮食治疗带来的部分或全部益处。基于 2009 年美国人口年龄分布情况，以及不同的 PKU 发病率估计值（1/10000；1/15000；1/20000），将患有 PKU 的女性所生育婴儿的预计数量与患有 PKU 的婴儿的预计数量进行了比较。2009 年，年龄在 15-44 岁之间的女性约有 6200 万人，生育率为 66.7 名婴儿/每千名女性。在这些女性中，根据 PKU 的发病率，估计有 3097-6195 名患有 PKU，她们将生育 207-413 名婴儿。同年，新生儿数量为 4118055 名，其中将有 206-412 名婴儿患有 PKU。因此，在美国，无论 PKU 的发病率如何估计，接触 MPKU 的婴儿数量都与患有 PKU 的婴儿数量相等。这一比例随生育率而变化，但不受 PKU 发病率的影响。如果没有足够的资源、教育和资金来随访和监测患有 MPKU 的女性及其婴儿，新生儿 PKU 筛查和治疗的益处可能会受到严重限制。
