[Down's syndrome in the Basque autonomous community, 1990-1995: types of birth and follow-up of a cohort of 116 children during the first year of life. Registry of anomalies]. / Síndrome de Down en la Comunidad Autónoma del País Vasco, 1990-1995: Tipos de nacimiento y seguimiento de una cohorte de 116 niños durante el primer año de vida. Registro de anomalías congénitas de la Comunidad Autónoma del País Vasco (RACAV).

OBJECTIVE: The aim of this study was to assess the frequency of associated anomalies in babies with Down's syndrome (DS) and their progress throughout the first year of life. PATIENTS AND METHODS: All pregnancies of women resident in the Basque Autonomous Community with prenatal or postnatal diagnosis of DS ascertained during the period 1990-1995 were studied. A one year follow-up of all DS babies was carried out. RESULTS: One hundred and sixteen live born DS babies were identified. Half of them (58) showed other associated anomalies. Congenital heart disease (CHD) was the most frequent anomaly, present in 45 cases. Atrioventricular canal (AVC) was the most frequent type of CHD, present in 34 out of the 45, the complete from being more prevalent (2/3). A marked association between AVC and female sex was observed. The overall mortality in the first year of life was 18.1%, associated to the presence of CHD. CONCLUSIONS: These findings are in keeping with the observations reported in previous similar studies. Consistency of these population-based data over time provides and accurate and reliable basis both for planning the needs of children with DS and to counsel affected parents.