Publication: Análisis de los principales aspectos clínico-epidemiológicos de los recién nacidos con defectos congénitos registrados en el ECEMC
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2005-10
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Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER)
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Abstract
Some clinical aspects of the total set of infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period 1980-2004, have been analyzed through an epidemiological approach. The ECEMC is defined as a clinical-epidemiological research program on congenital defects, and is built on an ongoing case-control, hospital-based registry of newborn infants in Spain. The ECEMC database for the study period is constituted by a total of 32,883 infants with congenital anomalies detected during the first 3 days of life, that represent 1.61% of the total births surveyed (2,045,751). In order to study the clinical presentation of infants with birth defects, the classification system developed in the ECEMC [Martínez-Frías et al., 2002: Rev Dismor Epidemiol V(1):2-8], which is based in the most modern concepts in Dysmorphology, has been applied. The infants were distributed in the 3 main groups of isolated, multiply malformed, and syndromes, as well as some other subgroups. The analysis of the time distribution of the prevalence of the 3 main groups of clinical presentation confirmed a significant decrease for all of them, that may be considered, at least in great part, as a consequence of the impact of the interruption of some affected pregnancies after the prenatal detection of anomalies. After studying the distribution by clinical presentation of 17 defects that were selected (based on their relative high frequency at birth, or the high morbidity/mortality that they bear, and their monitoring in other countries), a high clinical heterogeneity was evident, since most of them are presented as isolated, or associated to other birth defects. Some, such as gastroschisis, hypospadias, or anencephaly, tend to present isolated, while other, such as anophthalmia/microphthalmia, abdominal wall defects and bilateral renal agenesis, use to be associated to other developmental abnormalities. The etiologic distribution of infants with congenital anomalies has also been studied, and the different syndromes identified in the ECEMC has been detailed, indicating their respective gene map location if known (based on the OMIM database up to July 2005), as well as their minimum birth prevalence in the Spanish population (based on the ECEMC database). The study concludes highlighting the importance of accurate case definition and classification in clinically homogeneous groups in order to optimize, not only the power of epidemiological studies in investigating the causes of birth defects, but the molecular analysis of patients with accurate clinical diagnoses. Thus, probably molecular genetic studies implemented to birth defects epidemiology will also help to reach the final objective of infants being born healthy.
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Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMC
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Boletín del ECEMC: Rev Dismor Epidemiol 2005; V (nº 4): 19-35