Alta sospecha de enfermedades metabólicas congénitas en la población de ascendencia judía del Hospital Ángeles Lomas

Abstract

Background: The application of the neonatal screening and its extension to diseases not identified by the classic method constitutes a challenge that has led to the application of new technologies, such as the multiple platform and the tandem mass spectrometry. A predisposition to these pathologies has been identifi ed in certain communities not previously studied, like the Jewish one; this makes their study essential for their timely diagnosis. Objective: To report the number of neonatal screening assays with suspicious reports for a congenital metabolic disease in those patients of Jewish ascent in the Angeles Lomas Hospital, and to compare it to the rest of the cases. Material and methods: We analyzed all the neonatal screenings performed between January 2010 and December 2014 at the Angeles Lomas Hospital. The suspicious results were recorded in a database, analyzing sex and ethnicity. Results: 4,749 neonatal screenings were analyzed; 1,425 were of Jewish ascendant. One hundred seventy-two screenings were suspicious, but only 27 were consistent in the second test. Of them, 50% of the females and 41% of the males were Jewish. Conclusion: We observed an elevated incidence of suspicious cases of congenital