Usefulness of Benedict's test for the screening of galactosemia

Abstract

Background: Benedict's test for the screening of galactosemia presents a high false-positive rate, which puts into question its usefulness.

Methods: We evaluated the results of Benedict's test as screening strategy for galactosemia, and the patients' definite diagnosis in our hospital in the last 25 years. We also assessed the most prevalent clinical conditions among the false-positive cases.

Results: Apart from glycosuria, many non-galactosemic newborns with heart alterations, prematurity, icterus and sepsis usually lead to false-positive results using Benedict's. No false-negative case for Benedict's test was reported in our hospital.

Conclusions: A better approach in terms of cost-effectiveness, sensitivity and specificity is needed for an effective screening of galactosemia.

Keywords: Benedict's reagent; Galactosemia; Inborn errors; Newborn screening.