Please use this identifier to cite or link to this item:http://hdl.handle.net/20.500.12105/14098
Title
Análisis clínico-epidemiológico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicos
Author(s)
Martínez-Frías, ML | Cuevas, Laureano ISCIII | Grupo Periférico del ECEMC | Bermejo-Sánchez, Eva ISCIII
Date issued
2012-12
Citation
Boletín del ECEMC: Rev Dismor Epidemiol 2011; VI (nº 2): 18-55
Language
Español
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.
Subject
Análisis clínico-epidemiológico | ECEMC | Defectos congénitos | Etiología | Grupo étnico | Clinical-epidemiological analysis | Congenital defects | Etiology | Ethnic group
Description
Dismorfología y Genética Clínica
Online version
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