Integration of the clinical aspects into the epidemiological analysis of the newborn infants with congenital defects registered through the ECEMC: 30 years getting ready for the future

Abstract

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCAn epidemiological analysis of the main clinical aspects of the infants with congenital defects registered by the ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2005, has been performed. It is remarkable that the ECEMC programme is defined, as stated in its Operating Manual, as a clinical and epidemiological research program on congenital defects, based on an ongoing case-control, hospital-based registry of newborn infants in Spain. The analyzed material corresponds to 2,152,479 total newborns surveyed, of which 34,066 (1.58%) had congenital defects detected during the first 3 days of life. All these infants with congenital anomalies were analyzed by applying the classification system developed in the ECEMC [Martínez-Frías et al., 1991: Am J Med Genet 41:192-195; Martínez-Frías and Urioste, 1994: Am J Med Genet 49:36-44; Martínez-Frías et al., 2000: Am J Med Genet 90:246-249], based on the most modern concepts in Dysmorphology [Martínez-Frías et al., 1998: Am J Med Genet 76:291-296]. Infants registered were distributed according to their clinical presentation as isolated, multiply malformed, and syndromes, and other subgroups into these 3 groups. The time distribution of the 3 main groups of clinical presentation was studied and all of them have decreased along the years, probably as a consequence of the impact of interruption of pregnancy of some affected fetuses. Apart from the study for all infants with congenital defects, the clinical presentation of a group of 17 defects (selected according to: their relatively high frequency at birth, or the high morbidity/mortality that they bear, and their monitoring in other countries) was also analysed. There was a considerable clinical heterogeneity in most of them, although some (gastroschisis, hypospadias, or anencephaly) tend to present as isolated anomalies, and other (anophthalmia/microphthalmia, abdominal wall defects and bilateral renal agenesis) appear more frequently associated to other defects. The etiologic distribution of infants with congenital anomalies in the ECEMC resulted similar to that shown by other authors, and the lists of syndromes, classified by their etiology, is also provided, detailing their gene map locations if known (OMIM database accessed in June 2006), and their minimum birth prevalence in Spain (according the ECEMC database). To conclude, a commentary is made on the possibility of including not only clinical and genetic information, but also molecular data in the registries coding systems, in order to integrate all the available biological knowledge in the epidemiological approach to identify the causes of congenital defects, to be prevented.N