Aspectos Clínico–Epidemiológicos

Abstract

We have used data from the Spanish Collaborative Study of Congenital Malformations (ECEMC) to epidemiologically analyze some clinical aspects of infants with congenital anomalies. For this purpose all infants of the ECEMC database were classified following the Program ´s methodology, which is explained in detail in another work of this issue [Martínez–Frías et al., 2002]. Data were analysed in three periods: the first one includes the years 1980–1985 (before the passing of the law allowing voluntary interruption of gestation (VIG) due to prenatal detection of anomalies in the fetus); the second period corresponds to the years 1986–2000, and the last one is for the year 2001, which is the year analysed in this issue. In this paper, we show the distribution of infants in the three main groups of clinical presentation (isolated, multiple, and syndromes), as well as some specific types of defect patterns identified among the three main groups. In addition, we studied the distribution by clinical presentation of 17 selected congenital defects. These defects were selected because of their frequency, or the morbidity/mortality that they bear. The etiologic distribution of infants with congenital defects is also analysed in the three study periods. Moreover, we have specified all the syndromes identified in the ECEMC database, as well as the number of cases with each syndrome, their birth frequency, and their gene map location when possible (based on the OMIM database). It is important to underline that all the presented figures for syndromes and the study defects, are minimal estimations of the real frequency, because of several reasons. First, because of the possibility to perform a VIG after the prenatal detection of fetal anomalies, which is possible in Spain since 1985. Second, because some modern diagnostic procedures were not available in the first years of the study. Moreover, unfortunately, the results of some complementary studies are not available for review in some cases, being impossible to reach to a final diagnosis. Finally, because of the difficulty to identify some syndromes at birth. We emphasize that, for some of the environmental syndromes (such as fetal alcohol syndrome, diabetic mbryofetopathy, and those due to some maternal infectious diseases), primary prevention is possible if a proper information and education is provided to the population.