Daniel Morell-Garcia1, Josep Miquel Bauça2, Antonia Barceló3, Gerardo Perez-Esteban4, Magdalena Vila5. 1. Servei d'Anàlisis Clíniques, Hospital Universitari Son Espases, Palma de Mallorca, Spain. Electronic address: dr.morell.uab@gmail.com. 2. Servei d'Anàlisis Clíniques, Hospital Universitari Son Espases, Palma de Mallorca, Spain. Electronic address: josepmiquel.bauca@ssib.es. 3. Secció d'Endocrinologia, Servei d'Anàlisis Clíniques, Hospital Universitari Son Espases, Palma de Mallorca, Spain. Electronic address: antonia.barcelo@ssib.es. 4. Secció de Malalties Metabòliques, Servei d'Anàlisis Clíniques, Hospital Universitari Son Espases, Palma de Mallorca, Spain. Electronic address: gerardo.perez@ssib.es. 5. Secció de Cribatge Neonatal, Servei d'Anàlisis Clíniques, Hospital Universitari Son Espases, Palma de Mallorca, Spain. Electronic address: mariam.vila@ssib.es.
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.
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.