Galactosemia screening with low false-positive recall rate: the Swedish experience.

ABSTRACT: Newborn screening was implemented in the 1960s with screening for phenylketonuria (PKU). In the same decade, it became possible to screen for classical galactosemia, a rare autosomal recessive inherited disorder, which is potentially life threatening if not treated. While newborn screening for PKU has become almost universal, galactosemia is included only in a minority of European newborn screening programs. The major arguments why galactosemia is excluded from newborn screening programs are that the disease can be diagnosed clinically, there is a high rate of false positives and long-term complications are common despite early diagnosis.Here, we report how we have decreased the number of false-positive galactosemia recalls to less than 0.01%, using a two-tier test strategy. All samples ar

SUBMITTER: Ohlsson A 

PROVIDER: S-EPMC3509849 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature