Neonatal screening for inborn errors of metabolism.
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BACKGROUND: Spain has the highest incidence rate of AIDS in Europe. Catalonia contributes with around 30% of the AIDS cases detected in Spain. From 1990 to 1994 the AIDS heterosexual transmission category increased from 9.6% to 14.6% in Catalonia. The objective of the study was to determine the HIV prevalence in a heterosexual population of pregnant women. SUBJECTS AND METHODS: Unlinked anonymous HIV screening by means of an agglutination assay and an enzyme immunoassay of eluates of dried blood spots from nearly half of the neonates born in Catalonia during 1994. RESULTS: HIV testing was done on 21,074 neonates. Overall HIV prevalence was 0.32% (95% CI: 0.25-0.40). It varied from 0.45% in Barcelona, 0.38-0.29% in the health regions around Barcelona, to 0.20-0.09% in the rest. The mean age of HIV infected women was younger (27) than that of the seronegative ones (29) (p < 0.001). The highest prevalence was 0.61% in women aged 20-24 years. CONCLUSIONS: The HIV prevalence in the heterosexual population of pregnant women in Catalonia is among the highest in Europe. Preventive efforts must begin with schoolchildren and be directed to adolescents and young women. It is convenient that women who want to become pregnant and mothers receiving antenatal care have access to voluntary confidential HIV testing.
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The aim of this study was to determine the incidence of neonatal deafness and how effective screening could be in a cohort of infants under the national health service in Mestre Venice. The criteria used in the screening of a population at risk were those established by the JCIH (1990). All the children born between September 1992 and August 1995 (4408 infants) were examined in an attempt to identify risk factors. The children presenting one or more risk factors and those admitted to neonatal intensive care for any reason were submitted to ABR testing. The results were considered negative if the wave V was perceived at an intensity < or = 40 dB nHL. Of the 4408 children screened, a total of 5 were found with a degree of deafness in excess of 50 dB HL. Three children were found to be at risk while two had a silent history. In terms of etiology, 2 children showed genetic transmission, one there had a 21 trisomia while it proved impossible to determine the cause of deafness in the remaining two. As indicated in other studies, application of a risk register makes it possible to identify congenital deafness in 50-60% of the cases. For this reason the authors consider mass screening through the use of oto-acoustic emissions to be quite useful.