Frecuencia de los defectos del tubo neural en Asturias: impacto del diagnóstico prenatal / Prevalence of neural tube defects in Asturias (Spain): impact of prenatal diagnosis

ObjetivoDescribir la frecuencia de defectos del tubo neural (DTN) –anencefalia, espina bífida y encefalocele—en Asturias, su evolución temporal y el impacto del diagnóstico prenatal.MétodosSe estudiaron los casos de DTN en nacidos y abortos inducidos durante el período 1990–2004, utilizando la base de datos del Registro de Defectos Congénitos de Asturias, de base poblacional. Se calcularon las tasas de prevalencia total y al nacimiento.ResultadosLa prevalencia total de DTN fue de 12,2 casos por 10.000 nacidos (5,9 anencefalias, 5,0 espinas bífidas y 1,3 encefaloceles) y mostró una tendencia ligeramente descendente, con un descenso significativo de la espina bífida, mientras que las cifras de anencefalia y encefalocele se mantuvieron estables. Finalizaron en aborto inducido tras el diagnóstico prenatal el 88% de los casos (anencefalia 96,7%; espina bífida 80%; encefalocele 84,6%), lo que determinó una prevalencia al nacimiento muy baja (1,4 DTN por 10.000 nacidos).ConclusionesEn Asturias, en los últimos 15 años se ha producido un descenso selectivo en la prevalencia total de espina bífida de causa no aclarada. La prevención secundaria, mediante los programas de diagnóstico prenatal y la consiguiente interrupción del embarazo, fue el motivo del marcado descenso de la frecuencia en los nacidos; la simple recomendación de suplementación periconcepcional con ácido fólico no parece haber logrado el efecto buscado(AU)

ObjectiveTo describe the frequency and prevalence trend for neural tube defects (NTD) (anencephaly, spina bifida and encephalocele) in Asturias (Spain), as well as the impact of prenatal diagnosis programs.MethodsAll cases of NTD in births and induced abortions were studied, using data from the Registry of Congenital Defects of Asturias for 1990-2004. Total and birth prevalence rates were calculated.ResultsThe prevalence of NTD for 1990–2004 was 12.2 per 10,000 births (5.9 anencephaly, 5.0 spina bifida and 1.3 encephalocele) and showed a slightly decreasing trend due to a significant decline in spina bifida prevalence. The prevalence of anencephaly and encephalocele remained stable. The percentage of induced abortions after prenatal diagnosis among all NTD was 88% (anencephaly 96.7%, spina bifida 80% and encephalocele 84.6%), leading to a very low birth prevalence (1.4 per 10,000) for the entire period.ConclusionsThe total prevalence of spina bifida has decreased in the last 15 years in Asturias. Secondary prevention through prenatal diagnosis and interruption of affected pregnancies have resulted in a marked decrease in NTD at birth. The recommendation of periconceptional use of folic acid seems not to have achieved the desired effect (AU)

Frecuencia y tendencia temporal de los defectos congénitos en Asturias. La necesidad de la vigilancia clinicoepidemiológica / Prevalence and secular trend of congenital defects in Asturias, Spain. The need for clinical-epidemiological surveillance

ObjetivoLos defectos congénitos son la segunda causa de muerte perinatal e infantil, y la tercera entre los 2 y 5 años de edad en Asturias. Además, generan una importante morbilidad. El objetivo de nuestro estudio fue conocer la frecuencia global de los defectos congénitos en Asturias y su forma de presentación.MétodosSe analizaron los datos del Registro de Defectos Congénitos de Asturias (RDCA), de base poblacional, durante el período 1990–2004. Los datos se refieren a nacidos y abortos inducidos después del diagnóstico prenatal, y se presentan como prevalencias al nacimiento y total (incluye los abortos inducidos).ResultadosSe registraron 3.035 casos de defectos congénitos entre 103.452 nacidos, con una prevalencia total de 2,9 casos por 100 nacidos y una prevalencia al nacimiento del 2,5%. Estas frecuencias presentaron una tendencia al aumento. Fueron 2.516 (82,9%) neonatos, 46 (1,5%) mortinatos y 473 (15,6%) abortos inducidos. El diagnóstico prenatal fue aumentando durante el citado período. Un 63% presentó un defecto aislado o una secuencia, un 17% un síndrome y el 20% restante defectos múltiples sin un patrón sindrómico conocido. Los defectos más frecuentes y graves fueron los del tubo neural (12,2 casos por 10.000 nacidos), las anomalías del corazón (75,2 por 10.000) y las cromosómicas (34,4 por 10.000).ConclusionesLa experiencia de 15 años del RDCA pone de manifiesto la necesidad de estos sistemas de información para evaluar los programas de diagnóstico prenatal, planificar adecuadamente los recursos de atención a las mujeres embarazadas que pudieran estar afectadas, así como a los recién nacidos, y asegurar la vigilancia epidemiológica de los defectos congénitos en relación con las exposiciones medioambientales y medicamentosas, y con las técnicas de reproducción asistida(AU)

ObjectiveCongenital defects remain the second cause of perinatal and infant death and the third cause between the second and fifth years of life in Asturias. These anomalies generate substantial morbidity. The aim of the present study was to describe the population-based frequency of congenital defects in Asturias and their forms of presentation.MethodsData from the population-based Registry of Congenital Defects of Asturias for 1990–2004 were analyzed. The data related to live births, stillbirths and induced abortions after prenatal diagnosis and are presented as birth prevalence and total prevalence (including induced abortions).ResultsThe total number of births was 103,452 and there were 3,035 cases of congenital defects, representing a total prevalence of 2.9 cases per 100 births and a birth prevalence of 2.5%. These figures showed a tendency to increase throughout the study period. A total of 2,516 (82.9%) cases were live births, 46 (1.5%) were stillbirths and 473 (15.6%) were induced abortions. Prenatal diagnosis increased throughout the period. Sixtythree percent of total cases showed an isolated defect, 17% a recognized syndrome and the remaining 20% had multiple malformations without a syndromic pattern. The most frequent and severe defects registered were neural tube defects (12.2 per 10,000 births), chromosomal abnormalities (34.4 per 10,000), and cardiac defects (75.2 per 10,000).ConclusionsThe 15-year experience of the Registry of Congenital Defects of Asturias reveals the utility of this type of database to evaluate prenatal screening programs, plan the resources needed in affected pregnant women and infants, and perform epidemiological surveillance of congenital defects in relation to environmental risks, drug exposure and assisted reproduction techniques(AU)

[Prevalence of neural tube defects in Asturias (Spain): impact of prenatal diagnosis]. / Frecuencia de los defectos del tubo neural en Asturias: impacto del diagnóstico prenatal.

OBJECTIVE: To describe the frequency and prevalence trend for neural tube defects (NTD) (anencephaly, spina bifida and encephalocele) in Asturias (Spain), as well as the impact of prenatal diagnosis programs. METHODS: All cases of NTD in births and induced abortions were studied, using data from the Registry of Congenital Defects of Asturias for 1990-2004. Total and birth prevalence rates were calculated. RESULTS: The prevalence of NTD for 1990-2004 was 12.2 per 10,000 births (5.9 anencephaly, 5.0 spina bifida and 1.3 encephalocele) and showed a slightly decreasing trend due to a significant decline in spina bifida prevalence. The prevalence of anencephaly and encephalocele remained stable. The percentage of induced abortions after prenatal diagnosis among all NTD was 88% (anencephaly 96.7%, spina bifida 80% and encephalocele 84.6%), leading to a very low birth prevalence (1.4 per 10,000) for the entire period. CONCLUSIONS: The total prevalence of spina bifida has decreased in the last 15 years in Asturias. Secondary prevention through prenatal diagnosis and interruption of affected pregnancies have resulted in a marked decrease in NTD at birth. The recommendation of periconceptional use of folic acid seems not to have achieved the desired effect.

Frecuencia del síndrome de Down en Asturias y tendencia temporal, 1990-2004 / Prevalence and secular trend of Down syndrome in Asturias (Spain), 1990-2004

Fundamento y objetivo: El síndrome de Down (SD) es la cromosomopatía más frecuente y se asocia a importante morbilidad. El objetivo de este estudio fue conocer la frecuencia de SD y otras cromosomopatías en Asturias y su evolución temporal. Material y método: Se analizaron los datos del Registro de Defectos Congénitos de Asturias (RDCA), de base poblacional, incluidos los casos diagnosticados en nacidos y abortos inducidos (AI) entre 1990 y 2004. Resultados: En 103.452 nacidos se registraron 356 cromosomopatías (176 nacidos y 180 AI), con una prevalencia total de 22 casos por 10.000 nacidos en 1990 y 48,6 en 2004. El SD fue la más frecuente, con 210 casos y una prevalencia total de 13 casos/10.000 en 1990 y 29,1 en 2004. Un 63% de los nacidos con SD presentaron anomalías asociadas. Conclusiones: Los cambios en la edad materna y los programas de diagnóstico prenatal han influido en la evolución temporal de prevalencia de SD (AU)

Background and objective: Down syndrome (DS) is the most frequent chromosomal abnormality and bears a severe associated morbidity. Our goal was to describe trends in the prevalence of DS in Asturias (Spain). Material and methods: Data from the Registry of Congenital Defects were analyzed, including births and induced abortions, between 1990 and 2004. Results: Out of a total 103 452 births, 356 chromosomal anomalies had been registered (176 births and 180 induced abortions) and there were 210 DS (119 live births, two stillbirths and 89 induced abortions). Total prevalence assessment showed an important upward trend over time in both cases. The prevalence of total chromosomal abnormalities increased from 22 cases per 10 000 births in 1990 to 48,6 in 2004 and the DS prevalence increased from 13 to 29,1. Furthermore, 63% of DS births presented one or more associated defects, cardiac and digestive tract defects being the most frequent. Conclusions: Changes in maternal age and prenatal screening have influenced DS prevalence and trends (AU)

[Prevalence and secular trend of Down syndrome in Asturias (Spain), 1990-2004]. / Frecuencia del síndrome de Down en Asturias y tendencia temporal, 1990-2004.

BACKGROUND AND OBJECTIVE: Down syndrome (DS) is the most frequent chromosomal abnormality and bears a severe associated morbidity. Our goal was to describe trends in the prevalence of DS in Asturias (Spain). MATERIAL AND METHODS: Data from the Registry of Congenital Defects were analyzed, including births and induced abortions, between 1990 and 2004. RESULTS: Out of a total 103 452 births, 356 chromosomal anomalies had been registered (176 births and 180 induced abortions) and there were 210 DS (119 live births, two stillbirths and 89 induced abortions). Total prevalence assessment showed an important upward trend over time in both cases. The prevalence of total chromosomal abnormalities increased from 22 cases per 10 000 births in 1990 to 48,6 in 2004 and the DS prevalence increased from 13 to 29,1. Furthermore, 63% of DS births presented one or more associated defects, cardiac and digestive tract defects being the most frequent. CONCLUSIONS: Changes in maternal age and prenatal screening have influenced DS prevalence and trends.

[Prevalence and secular trend of congenital defects in Asturias, Spain. The need for clinical-epidemiological surveillance]. / Frecuencia y tendencia temporal de los defectos congénitos en Asturias. La necesidad de la vigilancia clinicoepidemiológica.

OBJECTIVE: Congenital defects remain the second cause of perinatal and infant death and the third cause between the second and fifth years of life in Asturias. These anomalies generate substantial morbidity. The aim of the present study was to describe the population-based frequency of congenital defects in Asturias and their forms of presentation. METHODS: Data from the population-based Registry of Congenital Defects of Asturias for 1990-2004 were analyzed. The data related to live births, stillbirths and induced abortions after prenatal diagnosis and are presented as birth prevalence and total prevalence (including induced abortions). RESULTS: The total number of births was 103,452 and there were 3,035 cases of congenital defects, representing a total prevalence of 2.9 cases per 100 births and a birth prevalence of 2.5%. These figures showed a tendency to increase throughout the study period. A total of 2,516 (82.9%) cases were live births, 46 (1.5%) were stillbirths and 473 (15.6%) were induced abortions. Prenatal diagnosis increased throughout the period. Sixtythree percent of total cases showed an isolated defect, 17% a recognized syndrome and the remaining 20% had multiple malformations without a syndromic pattern. The most frequent and severe defects registered were neural tube defects (12.2 per 10,000 births), chromosomal abnormalities (34.4 per 10,000), and cardiac defects (75.2 per 10,000). CONCLUSIONS: The 15-year experience of the Registry of Congenital Defects of Asturias reveals the utility of this type of database to evaluate prenatal screening programs, plan the resources needed in affected pregnant women and infants, and perform epidemiological surveillance of congenital defects in relation to environmental risks, drug exposure and assisted reproduction techniques.