Publication: Análisis clínico-epidemiológico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicos
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2010-12
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Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER)
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Abstract
Here it is presented the 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 2009. Among a total of 2,561,162 newborns surveyed, 38,503 (1.50%) had congenital defects detected during the fi rst 3 days of life. This group of malformed infants was distributed according to their clinical presentation as isolated (73.98%), multiply malformed (13.51%), and syndromes (12.52%). The etiologic distribution of infants with congenital anomalies in the ECEMC showed a 20.46% of genetic cause, 20.40% multifactorial, 1.33% produced by environmental causes, and the etiology of the defects was unknown in the remaining 57.81%. The secular distribution of the 3 main groups of clinical presentation (isolated, multiply malformed and syndromes) was studied and all of them showed a decreasing trend along the years, probably as a consequence of the impact of the interruption of pregnancy of some affected foetuses. The different types of syndromes identifi ed and their minimal frequency values are also presented, separated by type of cause. Finally, the distribution of cases with birth defects by ethnic groups is also analysed, as well as the proportion of autosomal dominant and recessive syndromes, and also those due to both numerical and structural chromosomal alterations in all the ethnic groups. Due to the small samples in most groups, the differences are not statistically signifi cant, except for autosomal recessive syndromes that are signifi cantly more frequent in Gypsies than in the white groups (both native and foreigner), the black group, and the one of Other (including mix groups).
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Dismorfología y Genética Clínica
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Boletín del ECEMC: Rev Dismor Epidemiol 2010; V (nº 9): 20-42