Anomalías cromosómicas: la experiencia del Registro de Anomalías Congénitas de la Comunitat Valenciana / Chromosomal anomalies: The experience of the Congenital Anomalies Registry of the Valencia Region

OBJETIVO: Describir la tendencia y la distribución de las anomalías congénitas (AC) cromosómicas en la Comunitat Valenciana, en menores de un año, durante el periodo 2007-2011. METODOLOGÍA: Se seleccionó a los nacidos vivos y muertos e interrupciones voluntarias del embarazo por AC entre 2007 y 2011 del Registro Poblacional de AC de la Comunitat Valenciana con AC cromosómica (códigos Q90-Q99.9 de la 10.ª Clasificación Internacional de Enfermedades-British Pediatric Asociation). Se calcularon la prevalencia por 10.000 nacidos y sus intervalos de confianza (IC) al 95% para el conjunto de AC cromosómica y algunos síndromes cromosómicos. El análisis se realizó mediante el cálculo de prevalencia y se compararon los datos utilizando la prueba de la chi al cuadrado de Pearson. RESULTADOS: Se identificaron 895 casos de AC cromosómicas, lo que supuso una prevalencia de 33,5 por 10.000 nacimientos (IC del 95%, 31,0-35,9), siendo los síndromes más frecuentes: Down, Edwards, Patau, Turner y Klinefelter. Las prevalencias de las AC cromosómicas y síndrome de Down fueron estables en el periodo, excepto en 2010. El Down fue la AC cromosómica más frecuente (67%) y las interrupciones voluntarias del embarazo por AC, el tipo de finalización del embarazo mayoritario (69%). Entre las AC asociadas, las cardiopatías congénitas representaban un 70,3%. La mayoría de las madres de niños con AC cromosómicas eran españolas (73,3%) y en el grupo de edad de madres mayores de 39 años se identificó la prevalencia más elevada (133,0 por 10.000 nacimientos). La provincia de Castellón presentó la prevalencia más elevada, 39,1 por 10.000 nacimientos. CONCLUSIONES: La prevalencia se ha mantenido estable durante el quinquenio, exceptuando el descenso significativo del año 2010, detectado para AC cromosómicas y 2 de los principales síndromes. Las AC cromosómicas son un importante problema de salud pública, ya que representan el 15% de todas las AC identificadas en la Comunitat Valenciana, coincidiendo con los valores de Europa

OBJECTIVE: To describe the temporal trend and distribution of chromosomal congenital abnormalities (CA) in the Valencia Region, in less than one year olds, during the period 2007-2011. METHODOLOGY: Live births, still births and termination of pregnancy due to foetal anomaly between 2007 and 2011 with chromosomal CA (Q90-Q99.9 codes of the 10th International Classification of Diseases -British Paediatric Association) were selected from the CA population-based Registry of Valencia Region The prevalence per 10,000 births for the chromosomal CA and for the different types of chromosomal syndromes with 95% confidence intervals was calculated. The analysis was performed by calculating prevalences and data were compared using Pearson Chi-squared test. RESULTS: A total of 895 cases were found, representing a prevalence of 33.5 per 10,000 births (95% CI: 31.0-35.9), highlighting five syndromes: Down's, Edward's, Patau, Turner and Klinefelter. The prevalence of chromosomal CA and Down's syndrome were stable over the period, except in 2010. Down's was the most frequent chromosomal CA (67% of the cases), and the most frequent termination of pregnancy type was for foetal anomaly (69%). Cardiac heart defects represented 70.3% of the associated congenital anomalies. Mothers of children with chromosomal CA were mainly Spanish (73.3%). The age group of mothers over 39 years had a higher prevalence (133.0 per 10,000 births). The province of Castellón had the highest prevalence, 39.1 per 10,000 births. CONCLUSIONS: The prevalence has remained stable over the five years, excluding the significant decline in 2010, for chromosomal CA detected and two of the major syndromes. The chromosomal CA are an important public health problem as they represent 15% of all CA identified in the Valencia Region, and agrees with the European data

[Chromosomal anomalies: The experience of the Congenital Anomalies Registry of the Valencia Region]. / Anomalías cromosómicas: la experiencia del Registro de Anomalías Congénitas de la Comunitat Valenciana.

OBJECTIVE: To describe the temporal trend and distribution of chromosomal congenital abnormalities (CA) in the Valencia Region, in less than one year olds, during the period 2007-2011. METHODOLOGY: Live births, still births and termination of pregnancy due to foetal anomaly between 2007 and 2011 with chromosomal CA (Q90-Q99.9 codes of the 10th International Classification of Diseases -British Paediatric Association) were selected from the CA population-based Registry of Valencia Region The prevalence per 10,000 births for the chromosomal CA and for the different types of chromosomal syndromes with 95% confidence intervals was calculated. The analysis was performed by calculating prevalences and data were compared using Pearson Chi-squared test. RESULTS: A total of 895 cases were found, representing a prevalence of 33.5 per 10,000 births (95% CI: 31.0-35.9), highlighting five syndromes: Down's, Edward's, Patau, Turner and Klinefelter. The prevalence of chromosomal CA and Down's syndrome were stable over the period, except in 2010. Down's was the most frequent chromosomal CA (67% of the cases), and the most frequent termination of pregnancy type was for foetal anomaly (69%). Cardiac heart defects represented 70.3% of the associated congenital anomalies. Mothers of children with chromosomal CA were mainly Spanish (73.3%). The age group of mothers over 39 years had a higher prevalence (133.0 per 10,000 births). The province of Castellón had the highest prevalence, 39.1 per 10,000 births. CONCLUSIONS: The prevalence has remained stable over the five years, excluding the significant decline in 2010, for chromosomal CA detected and two of the major syndromes. The chromosomal CA are an important public health problem as they represent 15% of all CA identified in the Valencia Region, and agrees with the European data.