The New England Maternal PKU Project: identification of at-risk women.

摘要

Young women with phenylketonuria (PKU) are at risk for bearing children with mental retardation, microcephaly, heart defects, and low birthweight. These effects may be prevented if a low phenylalanine diet is maintained prior to and throughout pregnancy. This report describes the procedures of the New England Regional Maternal PKU Project for identifying and locating this population of at-risk women. Newborn screening records, routine umbilical cord blood screening, and PKU Clinic records provided most of the identifying information. We identified 235 women with hyperphenylalaninemia, ages 12 to 44 years. Of these, 183 had PKU or atypical PKU while 52 had non-PKU mild hyperphenylalaninemia. The 235 women represent 88 per cent of the expected number of women with hyperphenylalaninemia in New England. We identified more than the expected number of those with PKU but only 57 per cent of the expected number with mild hyperphenylalaninemia. Developing a national registry, as well as screening women who utilize birth control clinics or prenatal clinics, may be helpful. Implementing routine umbilical cord blood screening programs may be beneficial in efforts to identify women with hyperphenylalaninemia who have had a child and may want more children in the future.