RESUMO
OBJECTIVE: Tetralogy of Fallot is characterized by the presence of four congenital heart defects. Objective: to describe the temporal trend and distribution of Tetralogy of Fallot, in children under one year in the Valencian Region. METHODS: Cases with Tetralogy of Fallot (code Q21.3 from the ICD10-British Paediatric Association) were selected from the Congenital Anomalies Population-based Registry between 2007-2017. Prevalence per 10,000 births with 95%CI was calculated, and a descriptive analysis of sociodemographic and clinical variables was made. RESULTS: 165 cases were identified (43.6% male, 30.9% female and 25.5% unknown). The overall prevalence was 3.1/10,000 births (95%CI:2.6-3.6), being 2015 and 2017 the years with the highest (4.3/10,000 births and 4.7/10,000 births respectively) and 2011 with the lowest (1.8/10,000 births). 72.1% were live births, 24.8% Termination of Pregnancy for Fetal Anomaly (TOPFA) and 3.0% stillbirths. The prevalence in live births was 2.2/10,000 births (95%CI:1.8-2.7) and in TOPFA it was 0.8/10,000 births (95%CI:0.5-1.0), identifying an increasing trend along the period in the last one. 10.1% of live births died during the first year of life and 55.8% were diagnosed prenatally. Mothers younger than 20 years had the highest prevalence (4.8/10,000 births). CONCLUSIONS: The prevalence obtained in the Valencian Region was slightly lower than EUROCAT's but coincides with that of the registries that are closer geographically, and in all of them it is noted that their increasing trend specifically affects cases ending in TOPFA.
OBJETIVO: La Tetralogía de Fallot está caracterizada por la presencia de cuatro anomalías congénitas cardíacas. El objetivo de este trabajo fue describir la tendencia temporal y distribución de la Tetralogía de Fallot en menores de un año en la Comunitat Valenciana. METODOS: Se seleccionaron los casos con Tetralogía de Fallot (código Q21.3 de la CIE10 de la Asociación Pediátrica Británica) nacidos entre 2007-2017 del Registro Poblacional de anomalías congénitas de la Comunitat Valenciana. Se calculó la prevalencia por 10.000 nacimientos con IC95% y se realizó un análisis descriptivo de las variables sociodemográficas y clínicas. RESULTADOS: Se identificaron 165 casos (43,6% niños, 30,9% niñas y 25,5% de sexo desconocido). La prevalencia global fue 3,1/10.000 nacimientos (IC95%:2,63,6), siendo los años de mayor prevalencia 2015 y 2017 (4,3/10.000 nacimientos y 4,7/10.000 nacimientos respectivamente) y 2011 el de menor (1,8/10.000 nacimientos). El 72,1% fueron nacidos vivos, el 24,8% Interrupciones Voluntarias del Embarazo y el 3,0% nacidos muertos. La prevalencia en nacidos vivos fue 2,2/10.000 nacimientos (IC95%:1,8-2,7) y en Interrupciones Voluntarias del Embarazo fue 0,8/10.000 nacimientos (IC95%:0,5-1,0), identificándose en la segunda una tendencia en aumento a lo largo del periodo. El 10,1% de nacidos vivos fallecieron durante el primer año de vida y el 55,8% se diagnosticaron prenatalmente. El grupo con mayor prevalencia fueron las embarazadas menores de 20 años (4,8/10.000 nacimientos. CONCLUSIONES: La prevalencia obtenida en la Comunitat Valenciana fue ligeramente inferior a la de EUROCAT pero coincide con la de registros próximos geográficamente, y en todos ellos destaca que su tendencia creciente afecta específicamente a casos que finalizan en Interrupciones Voluntarias del Embarazo.
Assuntos
Monitoramento Epidemiológico , Cardiopatias Congênitas/epidemiologia , Tetralogia de Fallot/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Prevalência , Sistema de Registros , Espanha/epidemiologiaRESUMO
OBJECTIVE: To evaluate the sources of information used by the Regional Population-based Registries of Rare Diseases (RRD) for Wilson's Disease identification in Spain; to calculate its prevalence and mortality; and to describe the sociodemographic characteristics of those affected. METHOD: Cross-sectional epidemiological study, period 2010-2015. Possible cases were identified by codes 275.1 (ICD-9-CM), E83.0 (ICD-10) and 905 (ORPHAcode) in: 15 participating RRD and the Rare Disease Patients Registry of the Carlos III Health Institute. The diagnoses were confirmed through a clinical documentation review. The positive predictive value (PPV) of the sources of information used by RRD and their combinations were obtained. The prevalence, mortality and the distribution of sociodemographic characteristics were calculated. RESULTS: The Hospital Discharge Database (HDD) was the most used source by the RRD (PPV=39.4%), followed by the Orphan Drugs Registry (ODR) (PPV=81.9%). The Clinical History of Primary Care (PC) obtains PPV=55.9%. The combinations with highest PPV were the ODR with HDD (PPV=95.8%) and the ODR with PC (PPV=92.9%). 514 cases were confirmed, 57.2% men, with a median age of diagnosis of 21.3 years. The prevalence was 1.64/100,000 inhabitants in 2015 and mortality rate was 3.0%, being both higher in men. CONCLUSIONS: Incorporation of ODR and PC into the RRD is recommended, as its combination and ODR with HDD could be used as an automatic validation criterion for Wilson's disease. The prevalence obtained was similar to that of countries close to Spain.
