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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2012-12
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Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER)
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Abstract
This chapter is aimed at epidemiologically analyze the main clinical aspects of the infants with congenital defects registered by ECEMC (Spanish Collaborative Study of Congenital Malformations) during the period 1980-2011. A total of 2,735,086 newborns were surveyed, and 1.47% of them (40,329) had congenital defects detected during the first 3 days of life. This global frequency has significantly diminished along the time, mainly as a consequence of terminations of pregnancy (ToP) after the detection of fetal anomalies. This decrease is very marked for blastogenetic defects. The distribution of cases by clinical presentation of their defects revealed that 73.91% had isolated defects, 13.58% were multiply malformed, and 12.51% had different syndromes. The decreasing trend along the time affects all forms of clinical presentation. The etiologic distribution of infants with congenital defects is also presented: 20.46% had a genetic cause, 1.37% was due to environmental causes, 20.19% were multifactorial, and 57.98% were of unknown cause. The different syndromes identified are listed in Tables 5-11, separated by type of cause, and the minimal estimate of their frequency is also included. A special attention was paid to the distribution of the different types of syndromes (regarding their etiology), by ethnic groups in Spain.
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Dismorfología y Genética Clínica
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Boletín del ECEMC: Rev Dismor Epidemiol 2011; VI (nº 2): 18-55