Aspectos Clínico-Epidemiológicos de los recién nacidos con anomalías congénitas registrados en el ECEMC

Abstract

Data gathered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period 1980-2003 have been analyzed to study some clinical aspects of congenital anomalies through an epidemiological point of view. Data of the ECEMC correspond to a consecutive series of newborn infants with congenital anomalies detected during the first 3 days of life. A total of 1,941,742 newborns were surveyed, and 31,646 (1.63%) of them presented with congenital anomalies. Malformed infants were distributed by clinical presentation as isolated, multiply malformed or syndromes, and some other subgroups were also established, according to our own classification system [Martínez-Frías et al, 2002: Rev Dismor Epidemiol V(1):2-8], based on the most modern dysmorphologic concepts. The 3 forms of clinical presentation are significantly decreasing along the time, mostly as a result of the impact of prenatal detection of anomalies and further interruption of some affected pregnancies. We also studied the distribution by clinical presentation of 17 selected defects. Those defects were selected because of their relatively high frequency at birth, or due to the high morbidity/mortality that they bear, and because their frequency at birth is also monitored in other countries and it would permit comparisons if necessary. A high clinical heterogeneity is common, as most of them appear in any clinical presentation. Some, such as gastroschisis, hypospadias, anencephaly, spina bifida, cleft lip, or diaphragmatic hernia, tend to present more frequently in their isolated form, while other, such as anophthalmia/microphthalmia, abdominal wall defects and bilateral renal agenesis, are usually associated to other anomalies. We performed the etiologic distribution of infants with congenital anomalies, and showed the different types of syndromes identified in the ECEMC and their gene map location, based on the OMIM database, also estimating their minimal prevalence at birth, based on our data. We underline the relevance of clinical analysis of malformed infants in order to organize homogeneous groups to which the epidemiological techniques can be applied. For these purposes, it is crucial a fluent contact between clinicians and epidemiologists, to enhance possibilities of statistical findings being also clinically relevant. At present, this is even more important to conduct molecular studies on specific groups of patients for investigating the causes of congenital defects.